Variant report

Variant	nsv1007164
Chromosome Location	chr3:142837004-142891719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1737)
CpG islands
(count:1588)
Chromatin interactive
region (count:75)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1737 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:142884555-142884662	K562	blood:	n/a	n/a
2	ARID3A	chr3:142887160-142887701	K562	blood:	n/a	n/a
3	ARID3A	chr3:142837672-142837874	K562	blood:	n/a	n/a
4	ATF1	chr3:142884502-142884840	K562	blood:	n/a	n/a
5	ATF1	chr3:142887275-142887709	K562	blood:	n/a	n/a
6	ATF2	chr3:142876783-142877936	GM12878	blood:	n/a	n/a
7	ATF2	chr3:142884217-142884797	GM12878	blood:	n/a	n/a
8	ATF2	chr3:142883498-142884818	GM12878	blood:	n/a	n/a
9	ATF2	chr3:142841288-142842913	GM12878	blood:	n/a	n/a
10	ATF2	chr3:142850954-142851793	GM12878	blood:	n/a	n/a
11	ATF2	chr3:142851015-142851521	GM12878	blood:	n/a	n/a
12	ATF2	chr3:142837530-142838477	GM12878	blood:	n/a	n/a
13	ATF2	chr3:142883476-142884102	GM12878	blood:	n/a	n/a
14	ATF2	chr3:142877219-142877968	GM12878	blood:	n/a	n/a
15	ATF2	chr3:142841443-142842980	GM12878	blood:	n/a	n/a
16	ATF3	chr3:142884466-142884763	K562	blood:	n/a	n/a
17	ATF3	chr3:142887373-142887703	K562	blood:	n/a	n/a
18	BACH1	chr3:142837795-142838541	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr3:142837531-142837535	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr3:142884528-142884761	GM12878	blood:	n/a	n/a
21	BATF	chr3:142883652-142884050	GM12878	blood:	n/a	n/a
22	BATF	chr3:142854077-142854399	GM12878	blood:	n/a	chr3:142854210-142854221 chr3:142854084-142854094
23	BATF	chr3:142851018-142851369	GM12878	blood:	n/a	chr3:142851221-142851231 chr3:142851220-142851231
24	BATF	chr3:142883729-142884024	GM12878	blood:	n/a	n/a
25	BATF	chr3:142876551-142877851	GM12878	blood:	n/a	n/a
26	BATF	chr3:142842185-142842521	GM12878	blood:	n/a	n/a
27	BATF	chr3:142876880-142877317	GM12878	blood:	n/a	n/a
28	BATF	chr3:142877358-142877838	GM12878	blood:	n/a	n/a
29	BATF	chr3:142884468-142884777	GM12878	blood:	n/a	n/a
30	BCL11A	chr3:142884551-142884779	GM12878	blood:	n/a	chr3:142884671-142884680 chr3:142884670-142884679
31	BCL11A	chr3:142877500-142877784	GM12878	blood:	n/a	chr3:142877585-142877594 chr3:142877584-142877593
32	BCL11A	chr3:142884480-142884778	GM12878	blood:	n/a	chr3:142884671-142884680 chr3:142884670-142884679
33	BCL11A	chr3:142883668-142884076	GM12878	blood:	n/a	n/a
34	BCL11A	chr3:142842125-142842567	GM12878	blood:	n/a	chr3:142842423-142842432
35	BCL11A	chr3:142841532-142841759	GM12878	blood:	n/a	n/a
36	BCL11A	chr3:142876924-142877894	GM12878	blood:	n/a	chr3:142877585-142877594 chr3:142877584-142877593
37	BCL11A	chr3:142851091-142851422	GM12878	blood:	n/a	n/a
38	BCL11A	chr3:142841427-142841764	GM12878	blood:	n/a	n/a
39	BCL11A	chr3:142876952-142877287	GM12878	blood:	n/a	n/a
40	BCL3	chr3:142877402-142877822	GM12878	blood:	n/a	chr3:142877585-142877594 chr3:142877584-142877593
41	BCL3	chr3:142883521-142884049	GM12878	blood:	n/a	n/a
42	BCL3	chr3:142851082-142851415	GM12878	blood:	n/a	n/a
43	BCLAF1	chr3:142876844-142877276	GM12878	blood:	n/a	n/a
44	BCLAF1	chr3:142839612-142840135	GM12878	blood:	n/a	chr3:142839630-142839643 chr3:142839627-142839636 chr3:142839624-142839633
45	BCLAF1	chr3:142883450-142884081	GM12878	blood:	n/a	n/a
46	BCLAF1	chr3:142837754-142838482	GM12878	blood:	n/a	chr3:142838423-142838436
47	BCLAF1	chr3:142841778-142842887	GM12878	blood:	n/a	chr3:142842423-142842432 chr3:142842634-142842643
48	BCLAF1	chr3:142889996-142890544	GM12878	blood:	n/a	n/a
49	BCLAF1	chr3:142841375-142842934	GM12878	blood:	n/a	chr3:142842423-142842432 chr3:142842634-142842643
50	BCLAF1	chr3:142839701-142840519	GM12878	blood:	n/a	n/a

(count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142854187-142854237	HIPEpiC	eye:	n/a
2	chr3:142838320-142838370	H1-hESC	embryonic stem cell:	embryo
3	chr3:142854187-142854237	HIPEpiC	eye:	n/a
4	chr3:142838320-142838370	H1-hESC	embryonic stem cell:	embryo
5	chr3:142837995-142838045	PFSK-1	brain:	n/a
6	chr3:142840837-142840887	AoSMC	blood vessel:	n/a
7	chr3:142840837-142840887	NB4	blood:	n/a
8	chr3:142838682-142838732	NB4	blood:	n/a
9	chr3:142840837-142840887	HCM	heart:	n/a
10	chr3:142837995-142838045	HUVEC	blood vessel:	n/a
11	chr3:142839837-142839887	NHDF-neo	bronchial:	n/a
12	chr3:142839991-142840041	HepG2	liver:	n/a
13	chr3:142840129-142840179	ECC-1	luminal epithelium:	n/a
14	chr3:142840129-142840179	HCPEpiC	choroid plexus:	n/a
15	chr3:142837529-142837579	ECC-1	luminal epithelium:	n/a
16	chr3:142858878-142858928	HepG2	liver:	n/a
17	chr3:142890118-142890168	MCF-7	breast:	n/a
18	chr3:142839022-142839072	GM12891	blood:	n/a
19	chr3:142888303-142888353	PrEC	prostate:	n/a
20	chr3:142858878-142858928	MCF10A-Er-Src	breast:	n/a
21	chr3:142873975-142874025	HepG2	liver:	n/a
22	chr3:142840129-142840179	AG09309	skin:	n/a
23	chr3:142837472-142837522	HCT-116	colon:	n/a
24	chr3:142888303-142888353	HCF	heart:	n/a
25	chr3:142837564-142837614	AG04449	skin:	fetal
26	chr3:142837529-142837579	HUVEC	blood vessel:	n/a
27	chr3:142839991-142840041	AG09319	gingival:	n/a
28	chr3:142844036-142844086	HL-60	blood:	n/a
29	chr3:142844036-142844086	MCF-7	breast:	n/a
30	chr3:142840240-142840290	RPTEC	kidney:	n/a
31	chr3:142840837-142840887	AG04449	skin:	fetal
32	chr3:142838938-142838988	HAEpiC	amniotic membrane:	n/a
33	chr3:142873975-142874025	HAEpiC	amniotic membrane:	n/a
34	chr3:142838938-142838988	NT2-D1	testis:	n/a
35	chr3:142840129-142840179	CMK	blood:	n/a
36	chr3:142838320-142838370	NHBE	bronchial:	n/a
37	chr3:142839903-142839953	IMR90	lung:	fetal
38	chr3:142844036-142844086	SK-N-MC	brain:	n/a
39	chr3:142839991-142840041	HCT-116	colon:	n/a
40	chr3:142838682-142838732	HAEpiC	amniotic membrane:	n/a
41	chr3:142838938-142838988	SKMC	muscle:	n/a
42	chr3:142838082-142838132	HAEpiC	amniotic membrane:	n/a
43	chr3:142854187-142854237	HNPCEpiC	eye:	n/a
44	chr3:142837529-142837579	HCT-116	colon:	n/a
45	chr3:142837564-142837614	AG10803	skin:	n/a
46	chr3:142838682-142838732	NHDF-neo	bronchial:	n/a
47	chr3:142858878-142858928	K562	blood:	n/a
48	chr3:142837995-142838045	GM19239	blood:	n/a
49	chr3:142837529-142837579	K562	blood:	n/a
50	chr3:142838682-142838732	HCT-116	colon:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:142842296..142843845-chr3:142877160..142879229,2	K562	blood:
2	chr3:142835479..142837341-chr3:143085961..143087735,2	K562	blood:
3	chr3:142546469..142548561-chr3:142838535..142840408,2	K562	blood:
4	chr3:142864283..142866625-chr3:142873331..142875437,2	K562	blood:
5	chr3:142862489..142866063-chr3:142867641..142870966,4	K562	blood:
6	chr3:142839800..142841734-chr3:142873166..142874850,2	K562	blood:
7	chr3:142851820..142854133-chr3:142856452..142858967,2	MCF-7	breast:
8	chr3:142841180..142845810-chr3:142884202..142887242,4	K562	blood:
9	chr3:142839303..142841374-chr3:143036089..143037614,2	K562	blood:
10	chr3:142821256..142824005-chr3:142845694..142847752,2	K562	blood:
11	chr3:142794271..142797141-chr3:142844007..142845720,2	K562	blood:
12	chr3:142867292..142870020-chr3:142871311..142874346,3	K562	blood:
13	chr3:142799728..142802020-chr3:142842393..142844077,2	K562	blood:
14	chr3:142847512..142849517-chr3:142856776..142858672,2	K562	blood:
15	chr3:142867292..142870020-chr3:142871311..142874346,3	K562	blood:
16	chr3:142835029..142837215-chr3:142844723..142846346,2	MCF-7	breast:
17	chr3:142842113..142844822-chr3:142868561..142870240,2	K562	blood:
18	chr3:142863143..142865684-chr3:142879611..142883085,3	K562	blood:
19	chr3:142841738..142844491-chr3:142857167..142859995,2	K562	blood:
20	chr3:142871516..142874257-chr3:142874409..142878539,5	K562	blood:
21	chr3:142872175..142873721-chr3:142875335..142876935,2	K562	blood:
22	chr3:142889235..142895118-chr3:142897231..142901814,7	K562	blood:
23	chr3:142760861..142763721-chr3:142838517..142840129,2	K562	blood:
24	chr3:142862489..142866780-chr3:142867641..142872895,6	K562	blood:
25	chr3:142832736..142834624-chr3:142842242..142844343,2	K562	blood:
26	chr22:21977706..21979861-chr3:142843771..142846008,2	K562	blood:
27	chr3:142806692..142808957-chr3:142860540..142862798,2	K562	blood:
28	chr3:142871516..142874257-chr3:142874409..142878539,5	K562	blood:
29	chr3:142837925..142840306-chr3:142842832..142844357,2	MCF-7	breast:
30	chr3:142729466..142731298-chr3:142840071..142842956,2	K562	blood:
31	chr3:142872175..142873721-chr3:142875335..142876935,2	K562	blood:
32	chr3:142862489..142866780-chr3:142867641..142872895,6	K562	blood:
33	chr3:142842312..142844525-chr3:142920222..142922927,2	K562	blood:
34	chr3:142889368..142891930-chr3:142894381..142895952,2	K562	blood:
35	chr3:142775856..142778240-chr3:142884608..142886181,2	K562	blood:
36	chr3:142875650..142878540-chr3:142902217..142903747,2	K562	blood:
37	chr3:142850270..142855258-chr3:142857254..142859835,5	K562	blood:
38	chr3:142867078..142870020-chr3:142871311..142874550,3	K562	blood:
39	chr3:142842113..142845029-chr3:142867062..142870061,2	K562	blood:
40	chr3:142755305..142760138-chr3:142835756..142840820,6	K562	blood:
41	chr3:142839097..142841882-chr3:143060810..143062990,2	K562	blood:
42	chr3:142882417..142885348-chr3:142887165..142889309,2	K562	blood:
43	chr3:142854742..142857547-chr3:142861968..142864216,2	K562	blood:
44	chr3:142878953..142880947-chr3:142881192..142883078,2	K562	blood:
45	chr3:142814191..142816604-chr3:142843060..142844617,2	K562	blood:
46	chr3:142841180..142845810-chr3:142884202..142887242,4	K562	blood:
47	chr3:142850270..142855258-chr3:142857254..142859835,5	K562	blood:
48	chr3:142839696..142842108-chr3:143048440..143050143,2	K562	blood:
49	chr3:142878953..142880947-chr3:142881192..142883078,2	K562	blood:
50	chr3:142729466..142732055-chr3:142838748..142841571,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHST2-2	chr3:142849528-142851286	NONHSAT092521
2	lnc-CHST2-2	chr3:142842204-142842418	ENSG00000241679
3	lnc-CHST2-2	chr3:142850560-142850733	XLOC_002849
4	lnc-CHST2-2	chr3:142850116-142850470	XLOC_002849
5	lnc-CHST2-2	chr3:142850560-142850735	ENSG00000241679

No data

Variant related genes	Relation type
PBX2P1	TF binding region
ENSG00000211483	TF binding region
ENSG00000241679	TF binding region
CHST2	TF binding region
PBX2P1	CpG island
ENSG00000211483	CpG island
ENSG00000241679	CpG island
CHST2	CpG island
ENSG00000211483	chromatin interactions
ENSG00000163714	chromatin interactions
ENSG00000241679	chromatin interactions
ENSG00000175040	chromatin interactions
ENSG00000268129	chromatin interactions
ENSG00000175054	chromatin interactions
ENSG00000240012	chromatin interactions
ENSG00000244171	chromatin interactions
ENSG00000240950	chromatin interactions
BCL2L11	miRNA target sites

Extended variants
information (count: 2143 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2143 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149444918	chr3:142837033-142837034	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs556988184	chr3:142837059-142837060	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs143883426	chr3:142837144-142837145	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190359733	chr3:142837148-142837149	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs3755739	chr3:142837272-142837273	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs3755738	chr3:142837302-142837303	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs76120182	chr3:142837303-142837304	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs529964221	chr3:142837309-142837310	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs114665198	chr3:142837339-142837340	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs183402668	chr3:142837346-142837347	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs187679825	chr3:142837352-142837353	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs4683739	chr3:142837361-142837362	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530389620	chr3:142837401-142837402	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs79227864	chr3:142837410-142837411	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs567099154	chr3:142837470-142837471	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs192502483	chr3:142837472-142837473	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs552432669	chr3:142837483-142837484	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs570887037	chr3:142837511-142837512	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs537857326	chr3:142837532-142837533	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs566526390	chr3:142837533-142837534	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs112633558	chr3:142837535-142837536	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs536173089	chr3:142837556-142837557	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs58870624	chr3:142837615-142837616	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs182785137	chr3:142837626-142837627	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs572746387	chr3:142837654-142837655	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs73868248	chr3:142837705-142837706	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558377504	chr3:142837707-142837708	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs576825832	chr3:142837816-142837817	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs543884972	chr3:142837823-142837824	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs562433071	chr3:142837827-142837828	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs368981631	chr3:142837842-142837843	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs542593833	chr3:142837935-142837936	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs114418190	chr3:142837957-142837958	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs376033935	chr3:142837999-142838000	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs576963370	chr3:142838011-142838012	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs368440364	chr3:142838020-142838021	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs187455714	chr3:142838027-142838028	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs527900103	chr3:142838038-142838039	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs377248454	chr3:142838058-142838059	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs570880371	chr3:142838090-142838091	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs531798801	chr3:142838133-142838134	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs549989259	chr3:142838143-142838144	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs372777239	chr3:142838159-142838160	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs568142457	chr3:142838187-142838188	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs535451667	chr3:142838198-142838199	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs554480600	chr3:142838242-142838243	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs566388239	chr3:142838281-142838282	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs533750700	chr3:142838312-142838313	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs554866914	chr3:142838315-142838316	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs558688680	chr3:142838390-142838391	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1433 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142831200-142837400	Weak transcription	GM12878-XiMat	blood
2	chr3:142835200-142837600	Enhancers	Fetal Thymus	thymus
3	chr3:142835600-142837400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:142835800-142837600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:142835800-142837600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:142836200-142837200	Bivalent Enhancer	Fetal Lung	lung
7	chr3:142836200-142837400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:142836600-142839200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:142836800-142837400	Enhancers	Dnd41	blood
10	chr3:142836800-142837600	Flanking Active TSS	K562	blood
11	chr3:142837000-142837400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr3:142837000-142837800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:142837000-142838000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr3:142837000-142838200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr3:142837000-142840400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr3:142837200-142837600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr3:142837200-142837600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:142837200-142837800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
19	chr3:142837200-142838000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr3:142837200-142838400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr3:142837200-142840600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr3:142837400-142837600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr3:142837400-142837600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:142837400-142837600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:142837400-142837600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:142837400-142837600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr3:142837400-142837600	Enhancers	Primary B cells from cord blood	blood
28	chr3:142837400-142837600	Enhancers	Primary T cells from cord blood	blood
29	chr3:142837400-142837600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr3:142837400-142837600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:142837400-142837600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr3:142837400-142837600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:142837400-142837600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:142837400-142837600	Enhancers	Adipose Nuclei	Adipose
35	chr3:142837400-142837600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr3:142837400-142837600	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr3:142837400-142837600	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr3:142837400-142837600	Flanking Bivalent TSS/Enh	Thymus	Thymus
39	chr3:142837400-142837800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:142837400-142837800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:142837400-142837800	Enhancers	Primary B cells from peripheral blood	blood
42	chr3:142837400-142837800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr3:142837400-142837800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:142837400-142837800	Bivalent Enhancer	Fetal Heart	heart
45	chr3:142837400-142837800	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr3:142837400-142837800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr3:142837400-142837800	Enhancers	Lung	lung
48	chr3:142837400-142837800	Bivalent Enhancer	NHEK	skin
49	chr3:142837400-142838000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
50	chr3:142837400-142838000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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