Variant report

Variant	esv2759183
Chromosome Location	chr3:142720230-142964373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4627)
CpG islands
(count:2990)
Chromatin interactive
region (count:278)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:4627 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:142719913-142720569	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:142900853-142901159	K562	blood:	n/a	n/a
3	ARID3A	chr3:142760633-142760843	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:142735218-142735471	K562	blood:	n/a	n/a
5	ARID3A	chr3:142735088-142735546	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:142884555-142884662	K562	blood:	n/a	n/a
7	ARID3A	chr3:142745877-142746001	K562	blood:	n/a	n/a
8	ARID3A	chr3:142837672-142837874	K562	blood:	n/a	n/a
9	ARID3A	chr3:142720105-142720621	K562	blood:	n/a	n/a
10	ARID3A	chr3:142902142-142902812	K562	blood:	n/a	n/a
11	ARID3A	chr3:142803838-142804349	K562	blood:	n/a	n/a
12	ARID3A	chr3:142789975-142790349	HepG2	liver:	n/a	n/a
13	ARID3A	chr3:142897049-142897053	K562	blood:	n/a	n/a
14	ARID3A	chr3:142887160-142887701	K562	blood:	n/a	n/a
15	ATF1	chr3:142887275-142887709	K562	blood:	n/a	n/a
16	ATF1	chr3:142784502-142784941	K562	blood:	n/a	n/a
17	ATF1	chr3:142884502-142884840	K562	blood:	n/a	n/a
18	ATF1	chr3:142896868-142897147	K562	blood:	n/a	n/a
19	ATF1	chr3:142803807-142804295	K562	blood:	n/a	n/a
20	ATF1	chr3:142719892-142720575	K562	blood:	n/a	n/a
21	ATF2	chr3:142876783-142877936	GM12878	blood:	n/a	n/a
22	ATF2	chr3:142899282-142899641	GM12878	blood:	n/a	n/a
23	ATF2	chr3:142779632-142780164	GM12878	blood:	n/a	n/a
24	ATF2	chr3:142850954-142851793	GM12878	blood:	n/a	n/a
25	ATF2	chr3:142719818-142720709	GM12878	blood:	n/a	n/a
26	ATF2	chr3:142883498-142884818	GM12878	blood:	n/a	n/a
27	ATF2	chr3:142800788-142801567	GM12878	blood:	n/a	n/a
28	ATF2	chr3:142837530-142838477	GM12878	blood:	n/a	n/a
29	ATF2	chr3:142883476-142884102	GM12878	blood:	n/a	n/a
30	ATF2	chr3:142800161-142800560	GM12878	blood:	n/a	n/a
31	ATF2	chr3:142841288-142842913	GM12878	blood:	n/a	n/a
32	ATF2	chr3:142779636-142780189	GM12878	blood:	n/a	n/a
33	ATF2	chr3:142884217-142884797	GM12878	blood:	n/a	n/a
34	ATF2	chr3:142803887-142804301	GM12878	blood:	n/a	n/a
35	ATF2	chr3:142719782-142720654	GM12878	blood:	n/a	n/a
36	ATF2	chr3:142925940-142926781	GM12878	blood:	n/a	n/a
37	ATF2	chr3:142719965-142720650	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr3:142926094-142926643	GM12878	blood:	n/a	n/a
39	ATF2	chr3:142720028-142720606	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr3:142822452-142822822	GM12878	blood:	n/a	n/a
41	ATF2	chr3:142841443-142842980	GM12878	blood:	n/a	n/a
42	ATF2	chr3:142800563-142801576	GM12878	blood:	n/a	n/a
43	ATF2	chr3:142851015-142851521	GM12878	blood:	n/a	n/a
44	ATF2	chr3:142877219-142877968	GM12878	blood:	n/a	n/a
45	ATF3	chr3:142720029-142720487	H1-hESC	embryonic stem cell:	n/a	chr3:142720321-142720341 chr3:142720321-142720330
46	ATF3	chr3:142884466-142884763	K562	blood:	n/a	n/a
47	ATF3	chr3:142720141-142720494	HepG2	liver:	n/a	chr3:142720321-142720341 chr3:142720321-142720330
48	ATF3	chr3:142719908-142720677	A549	lung:	n/a	chr3:142720321-142720341 chr3:142720321-142720330
49	ATF3	chr3:142887373-142887703	K562	blood:	n/a	n/a
50	ATF3	chr3:142719960-142720557	GM12878	blood:	n/a	chr3:142720321-142720341 chr3:142720321-142720330

(count:2990 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142720940-142720990	HL-60	blood:	n/a
2	chr3:142720940-142720990	HL-60	blood:	n/a
3	chr3:142858878-142858928	HEK293	kidney:	embryo
4	chr3:142720316-142720366	AG09309	skin:	n/a
5	chr3:142741875-142741925	HEK293	kidney:	embryo
6	chr3:142838938-142838988	AG09319	gingival:	n/a
7	chr3:142890118-142890168	GM19239	blood:	n/a
8	chr3:142840837-142840887	BJ	skin:	n/a
9	chr3:142790398-142790448	SKMC	muscle:	n/a
10	chr3:142837995-142838045	GM12878	blood:	n/a
11	chr3:142720294-142720344	SK-N-SH	brain:	n/a
12	chr3:142839903-142839953	HMEC	breast:	n/a
13	chr3:142720408-142720458	SK-N-MC	brain:	n/a
14	chr3:142735186-142735236	HEEpiC	esophagus:	n/a
15	chr3:142720187-142720237	BJ	skin:	n/a
16	chr3:142840837-142840887	RPTEC	kidney:	n/a
17	chr3:142840129-142840179	HRPEpiC	eye:	n/a
18	chr3:142895279-142895329	SK-N-SH	brain:	n/a
19	chr3:142720294-142720344	Caco-2	colon:	n/a
20	chr3:142838320-142838370	ECC-1	luminal epithelium:	n/a
21	chr3:142720940-142720990	Hela-S3	cervix:	n/a
22	chr3:142775293-142775343	GM12892	blood:	n/a
23	chr3:142841719-142841769	T-47D	breast:	n/a
24	chr3:142720940-142720990	HNPCEpiC	eye:	n/a
25	chr3:142837995-142838045	HCF	heart:	n/a
26	chr3:142873975-142874025	HEEpiC	esophagus:	n/a
27	chr3:142720237-142720287	H1-hESC	embryonic stem cell:	embryo
28	chr3:142837472-142837522	PFSK-1	brain:	n/a
29	chr3:142840240-142840290	HCPEpiC	choroid plexus:	n/a
30	chr3:142893947-142893997	BJ	skin:	n/a
31	chr3:142835844-142835894	PrEC	prostate:	n/a
32	chr3:142741875-142741925	PrEC	prostate:	n/a
33	chr3:142720237-142720287	LNCaP	prostate:	n/a
34	chr3:142837564-142837614	HRE	kidney:	n/a
35	chr3:142838003-142838053	GM12878	blood:	n/a
36	chr3:142838082-142838132	RPTEC	kidney:	n/a
37	chr3:142839837-142839887	NT2-D1	testis:	n/a
38	chr3:142724451-142724501	ovcar-3	ovarian:	n/a
39	chr3:142838938-142838988	HRCEpiC	kidney:	n/a
40	chr3:142720292-142720342	PANC-1	pancreas:	n/a
41	chr3:142720237-142720287	HRPEpiC	eye:	n/a
42	chr3:142835844-142835894	SKMC	muscle:	n/a
43	chr3:142775293-142775343	HMEC	breast:	n/a
44	chr3:142735186-142735236	AoSMC	blood vessel:	n/a
45	chr3:142838682-142838732	PFSK-1	brain:	n/a
46	chr3:142839578-142839628	PFSK-1	brain:	n/a
47	chr3:142839903-142839953	NHBE	bronchial:	n/a
48	chr3:142895375-142895425	U87	brain:	n/a
49	chr3:142835844-142835894	BJ	skin:	n/a
50	chr3:142790398-142790448	MCF10A-Er-Src	breast:	n/a

(count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr3:142296202..142300183-chr3:142719946..142722583,4	K562	blood:
2	chr3:142775856..142778240-chr3:142884608..142886181,2	K562	blood:
3	chr3:142947986..142949747-chr3:143028626..143030178,2	K562	blood:
4	chr3:142938667..142941480-chr3:142941937..142946054,4	K562	blood:
5	chr3:142900165..142901896-chr3:142950119..142953076,2	K562	blood:
6	chr3:142864516..142866204-chr3:142994483..142996916,2	K562	blood:
7	chr3:142764453..142766415-chr3:142770589..142773461,2	K562	blood:
8	chr3:142940072..142941625-chr3:142954271..142955900,2	K562	blood:
9	chr3:142752666..142754615-chr3:142809170..142812042,2	K562	blood:
10	chr3:142889368..142891930-chr3:142894381..142895952,2	K562	blood:
11	chr3:142955679..142958275-chr3:142964132..142966713,2	K562	blood:
12	chr3:142719836..142721441-chr3:142742742..142745727,2	K562	blood:
13	chr3:142796365..142799329-chr3:142833969..142835708,2	K562	blood:
14	chr3:142297403..142299294-chr3:142720282..142722143,3	MCF-7	breast:
15	chr3:142809779..142811759-chr3:142826073..142828537,2	K562	blood:
16	chr3:142736107..142739008-chr3:142740597..142742983,2	K562	blood:
17	chr3:142862489..142866063-chr3:142867641..142870966,4	K562	blood:
18	chr3:142809779..142811759-chr3:142826073..142828537,2	K562	blood:
19	chr3:142835479..142837341-chr3:143085961..143087735,2	K562	blood:
20	chr3:142790255..142790841-chr3:143363451..143364029,2	MCF-7	breast:
21	chr3:142758048..142759562-chr3:142771594..142774382,2	K562	blood:
22	chr3:142768453..142771583-chr3:142772247..142775036,3	MCF-7	breast:
23	chr3:142871516..142874257-chr3:142874409..142878539,5	K562	blood:
24	chr3:142929008..142930843-chr3:142953006..142954925,2	K562	blood:
25	chr3:142845393..142847101-chr3:143393090..143394841,2	K562	blood:
26	chr3:142791929..142795122-chr3:142795804..142798158,4	K562	blood:
27	chr3:142839696..142842108-chr3:143048440..143050143,2	K562	blood:
28	chr3:142744599..142746120-chr3:142749309..142751474,2	K562	blood:
29	chr3:142815403..142818636-chr3:142818743..142822345,3	K562	blood:
30	chr3:142814191..142816604-chr3:142843060..142844617,2	K562	blood:
31	chr3:142773649..142775353-chr3:142777692..142779387,2	K562	blood:
32	chr3:142821256..142825372-chr3:142845694..142848578,3	K562	blood:
33	chr3:142801559..142805670-chr3:142819651..142821823,3	K562	blood:
34	chr3:142907021..142910266-chr3:142911152..142913564,3	K562	blood:
35	chr3:142918300..142920442-chr3:142921412..142923086,3	K562	blood:
36	chr3:142921678..142924452-chr3:142925121..142926893,2	K562	blood:
37	chr3:142791929..142795122-chr3:142795804..142798158,4	K562	blood:
38	chr3:142949903..142951935-chr3:143002034..143003795,2	K562	blood:
39	chr3:142777135..142778996-chr3:142838578..142841035,2	K562	blood:
40	chr3:142907861..142909717-chr3:142911559..142913814,2	K562	blood:
41	chr3:142773649..142775353-chr3:142777692..142779387,2	K562	blood:
42	chr3:142863143..142865684-chr3:142879611..142883085,3	K562	blood:
43	chr3:142918300..142920057-chr3:142921412..142923080,2	K562	blood:
44	chr3:142938667..142941480-chr3:142941937..142946054,4	K562	blood:
45	chr3:142799728..142802020-chr3:142842393..142844077,2	K562	blood:
46	chr3:142962865..142964794-chr3:142967835..142970348,2	K562	blood:
47	chr3:142917669..142921522-chr3:142924910..142927664,3	K562	blood:
48	chr3:142800593..142805495-chr3:142835136..142839068,6	K562	blood:
49	chr3:142716811..142718483-chr3:142789179..142792100,2	K562	blood:
50	chr3:142677697..142680198-chr3:142718866..142721394,3	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHST2-10	chr3:142951611-142951872	l_2486_chr3:142951418-142976230_ovary
2	lnc-CHST2-2	chr3:142850560-142850735	ENSG00000241679
3	lnc-U2SURP-1	chr3:142803556-142803787	XLOC_002847
4	lnc-CHST2-10	chr3:142951419-142951544	l_2486_chr3:142951418-142976230_ovary
5	lnc-CHST2-2	chr3:142850560-142850733	XLOC_002849
6	lnc-U2SURP-1	chr3:142802859-142803060	XLOC_002847
7	lnc-CHST2-2	chr3:142842204-142842418	ENSG00000241679
8	lnc-CHST2-1	chr3:142830991-142831201	XLOC_002848
9	lnc-U2SURP-2	chr3:142719869-142720401	ENSG00000241570.4
10	lnc-CHST2-2	chr3:142850116-142850470	XLOC_002849
11	lnc-CHST2-2	chr3:142849528-142851286	NONHSAT092521
12	lnc-PAQR9-2	chr3:142719687-142720309	NONHSAT092514
13	lnc-PAQR9-2	chr3:142719749-142720309	ENSG00000268129.1
14	lnc-CHST2-1	chr3:142830644-142830800	XLOC_002848

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SR140	hsa-miR-29c-3p	chr3:142776910-142776931
2	U2SURP	hsa-miR-29c-3p	chr3:142776924-142776930

Variant related genes	Relation type
ENSG00000243733	TF binding region
PBX2P1	TF binding region
ENSG00000241679	TF binding region
CHST2	TF binding region
ENSG00000211483	TF binding region
ENSG00000268129	TF binding region
U2SURP	TF binding region
ENSG00000243733	CpG island
PBX2P1	CpG island
ENSG00000241679	CpG island
CHST2	CpG island
ENSG00000211483	CpG island
ENSG00000268129	CpG island
U2SURP	CpG island
ENSG00000144935	chromatin interactions
ENSG00000175040	chromatin interactions
ENSG00000240950	chromatin interactions
ENSG00000163714	chromatin interactions
ENSG00000242390	chromatin interactions
ENSG00000175054	chromatin interactions
ENSG00000241570	chromatin interactions
ENSG00000243733	chromatin interactions
ENSG00000163710	chromatin interactions
ENSG00000241679	chromatin interactions
ENSG00000188582	chromatin interactions
ENSG00000129521	chromatin interactions
ENSG00000196150	chromatin interactions
ENSG00000244171	chromatin interactions
ENSG00000268129	chromatin interactions
ENSG00000241592	chromatin interactions
ENSG00000211483	chromatin interactions
ENSG00000240012	chromatin interactions
VEGFA	miRNA target sites
BCL2L11	miRNA target sites

Extended variants
information (count: 9219 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:9219 , 50 per page) page: 1 2 3 4 5 6 7 ... 185

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552539571	chr3:142720263-142720264	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
2	rs368171197	chr3:142720270-142720271	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
3	rs564876234	chr3:142720273-142720274	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
4	rs532255715	chr3:142720282-142720283	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
5	rs548300018	chr3:142720288-142720289	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
6	rs559996903	chr3:142720291-142720292	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
7	rs181265073	chr3:142720295-142720296	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
8	rs147497901	chr3:142720309-142720310	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
9	rs186317423	chr3:142720311-142720312	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
10	rs533594901	chr3:142720315-142720316	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
11	rs558572041	chr3:142720332-142720333	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
12	rs527443908	chr3:142720338-142720339	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
13	rs766360	chr3:142720348-142720349	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs538513118	chr3:142720396-142720397	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
15	rs191623793	chr3:142720405-142720406	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs375855390	chr3:142720428-142720429	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs573249900	chr3:142720440-142720441	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs111340020	chr3:142720443-142720444	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs372971680	chr3:142720460-142720461	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs376927803	chr3:142720470-142720471	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs370308369	chr3:142720488-142720489	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs560427922	chr3:142720496-142720497	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs183628705	chr3:142720508-142720509	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs375415414	chr3:142720539-142720540	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs112914172	chr3:142720542-142720543	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs201100859	chr3:142720546-142720547	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs375686570	chr3:142720552-142720553	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs140095013	chr3:142720558-142720559	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs532293687	chr3:142720587-142720588	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs550425430	chr3:142720627-142720628	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs188965230	chr3:142720631-142720632	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs190954305	chr3:142720633-142720634	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs548359963	chr3:142720669-142720670	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs113402301	chr3:142720689-142720690	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs533864079	chr3:142720698-142720699	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs568106049	chr3:142720708-142720709	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs552224030	chr3:142720716-142720717	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs115761525	chr3:142720726-142720727	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs3902877	chr3:142720730-142720731	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs556847016	chr3:142720736-142720737	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs182428347	chr3:142720758-142720759	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs186860890	chr3:142720771-142720772	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs554327574	chr3:142720818-142720819	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs17557029	chr3:142720834-142720835	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs545862729	chr3:142720835-142720836	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs557743258	chr3:142720857-142720858	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs572463065	chr3:142720899-142720900	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs191323338	chr3:142720936-142720937	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs543411508	chr3:142720947-142720948	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs562486546	chr3:142720957-142720958	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:4472 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142718200-142725000	Active TSS	K562	blood
2	chr3:142718400-142721800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:142718400-142722000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:142718400-142722400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:142718600-142722200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:142718600-142722200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:142718800-142720600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:142718800-142721800	Active TSS	Left Ventricle	heart
9	chr3:142718800-142722200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:142718800-142722400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr3:142718800-142722400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:142718800-142722400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:142718800-142723000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr3:142719000-142721400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:142719000-142721800	Active TSS	Right Atrium	heart
16	chr3:142719000-142722000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr3:142719000-142722200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:142719000-142722200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:142719000-142722200	Active TSS	HSMMtube	muscle
20	chr3:142719000-142722800	Active TSS	A549	lung
21	chr3:142719200-142721600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr3:142719200-142721800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr3:142719200-142721800	Active TSS	Ovary	ovary
24	chr3:142719200-142722000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:142719200-142722000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:142719200-142722200	Active TSS	NHLF	lung
27	chr3:142719200-142723400	Active TSS	GM12878-XiMat	blood
28	chr3:142719400-142720400	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr3:142719400-142721400	Active TSS	Fetal Heart	heart
30	chr3:142719400-142721600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:142719400-142721600	Active TSS	Gastric	stomach
32	chr3:142719400-142721600	Active TSS	Lung	lung
33	chr3:142719400-142721800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:142719400-142721800	Active TSS	Esophagus	oesophagus
35	chr3:142719400-142722000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:142719400-142722000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:142719400-142722000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr3:142719400-142722000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:142719400-142722000	Active TSS	Fetal Intestine Large	intestine
40	chr3:142719400-142722200	Active TSS	Hela-S3	cervix
41	chr3:142719400-142722200	Active TSS	NHDF-Ad	bronchial
42	chr3:142719400-142722400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr3:142719400-142722400	Active TSS	NHEK	skin
44	chr3:142719600-142721000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:142719600-142721000	Active TSS	Fetal Brain Female	brain
46	chr3:142719600-142721000	Active TSS	Stomach Smooth Muscle	stomach
47	chr3:142719600-142721200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:142719600-142721200	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr3:142719600-142721200	Active TSS	Brain Substantia Nigra	brain
50	chr3:142719600-142721200	Active TSS	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links