Variant report

Variant	nsv966996
Chromosome Location	chr3:23958991-23961257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:608)
CpG islands
(count:122)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:23959171-23959288	HepG2	liver:	n/a	n/a
2	ATF2	chr3:23958263-23959318	GM12878	blood:	n/a	n/a
3	ATF2	chr3:23958232-23959402	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:23961216-23963250	GM12878	blood:	n/a	n/a
5	ATF2	chr3:23958047-23959420	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr3:23961253-23962227	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr3:23961107-23963189	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr3:23958089-23959399	GM12878	blood:	n/a	n/a
9	ATF2	chr3:23959426-23959917	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr3:23959077-23959199	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr3:23958150-23959454	A549	lung:	n/a	n/a
12	BCL3	chr3:23958313-23959381	A549	lung:	n/a	n/a
13	BCLAF1	chr3:23958023-23959347	GM12878	blood:	n/a	n/a
14	BCLAF1	chr3:23957912-23959364	K562	blood:	n/a	n/a
15	BCLAF1	chr3:23957969-23959351	GM12878	blood:	n/a	n/a
16	BHLHE40	chr3:23958351-23959263	HepG2	liver:	n/a	n/a
17	BHLHE40	chr3:23961249-23961420	GM12878	blood:	n/a	n/a
18	BHLHE40	chr3:23957070-23959340	K562	blood:	n/a	n/a
19	BHLHE40	chr3:23958989-23959241	A549	lung:	n/a	n/a
20	BHLHE40	chr3:23958139-23959352	GM12878	blood:	n/a	n/a
21	BRCA1	chr3:23958183-23959298	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr3:23957973-23959371	K562	blood:	n/a	n/a
23	CCNT2	chr3:23957905-23959683	K562	blood:	n/a	n/a
24	CCNT2	chr3:23960117-23960287	K562	blood:	n/a	n/a
25	CEBPB	chr3:23958142-23959247	K562	blood:	n/a	n/a
26	CEBPB	chr3:23958164-23959236	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr3:23960048-23960260	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr3:23958317-23959420	K562	blood:	n/a	n/a
29	CEBPB	chr3:23959953-23960255	K562	blood:	n/a	n/a
30	CEBPD	chr3:23958284-23959263	K562	blood:	n/a	n/a
31	CHD1	chr3:23960208-23960648	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr3:23957214-23960192	IMR90	lung:	n/a	n/a
33	CHD1	chr3:23957869-23959925	GM12878	blood:	n/a	n/a
34	CHD1	chr3:23958588-23959934	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr3:23958037-23959387	K562	blood:	n/a	n/a
36	CHD2	chr3:23958062-23959379	GM12878	blood:	n/a	n/a
37	CHD2	chr3:23958145-23959383	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr3:23957977-23959368	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr3:23958160-23959310	HepG2	liver:	n/a	n/a
40	CREB1	chr3:23957979-23959408	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr3:23958009-23959264	A549	lung:	n/a	n/a
42	CREB1	chr3:23957957-23959395	HepG2	liver:	n/a	n/a
43	CREB1	chr3:23957917-23959419	GM12878	blood:	n/a	n/a
44	CTBP2	chr3:23957910-23959201	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr3:23960638-23960998	A549	lung:	n/a	n/a
46	CTCF	chr3:23960732-23961023	K562	blood:	n/a	n/a
47	CTCF	chr3:23960731-23961009	K562	blood:	n/a	n/a
48	CTCF	chr3:23960743-23960950	A549	lung:	n/a	n/a
49	CTCF	chr3:23959060-23959210	AG04449	skin:	n/a	n/a
50	CTCF	chr3:23960557-23960758	T-47D	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:23960290-23960340	HCF	heart:	n/a
2	chr3:23959054-23959104	PFSK-1	brain:	n/a
3	chr3:23959054-23959104	NHBE	bronchial:	n/a
4	chr3:23959054-23959104	HRCEpiC	kidney:	n/a
5	chr3:23960290-23960340	HL-60	blood:	n/a
6	chr3:23960290-23960340	HRPEpiC	eye:	n/a
7	chr3:23959054-23959104	HRPEpiC	eye:	n/a
8	chr3:23959054-23959104	ovcar-3	ovarian:	n/a
9	chr3:23959054-23959104	Hepatocyte	liver:	n/a
10	chr3:23959054-23959104	Hela-S3	cervix:	n/a
11	chr3:23959054-23959104	ECC-1	luminal epithelium:	n/a
12	chr3:23960290-23960340	PFSK-1	brain:	n/a
13	chr3:23959054-23959104	HCT-116	colon:	n/a
14	chr3:23959054-23959104	GM12878	blood:	n/a
15	chr3:23960290-23960340	CMK	blood:	n/a
16	chr3:23959054-23959104	HEK293	kidney:	embryo
17	chr3:23959054-23959104	GM19239	blood:	n/a
18	chr3:23960290-23960340	MCF-7	breast:	n/a
19	chr3:23960290-23960340	ProgFib	skin:	n/a
20	chr3:23960290-23960340	HRE	kidney:	n/a
21	chr3:23959054-23959104	HRE	kidney:	n/a
22	chr3:23960290-23960340	HRCEpiC	kidney:	n/a
23	chr3:23960290-23960340	HEEpiC	esophagus:	n/a
24	chr3:23959054-23959104	GM12892	blood:	n/a
25	chr3:23960290-23960340	SKMC	muscle:	n/a
26	chr3:23960290-23960340	NT2-D1	testis:	n/a
27	chr3:23959054-23959104	HCF	heart:	n/a
28	chr3:23960290-23960340	T-47D	breast:	n/a
29	chr3:23959054-23959104	AG09309	skin:	n/a
30	chr3:23960290-23960340	HNPCEpiC	eye:	n/a
31	chr3:23959054-23959104	A549	lung:	n/a
32	chr3:23960290-23960340	RPTEC	kidney:	n/a
33	chr3:23960290-23960340	LNCaP	prostate:	n/a
34	chr3:23960290-23960340	GM12892	blood:	n/a
35	chr3:23959054-23959104	H1-hESC	embryonic stem cell:	embryo
36	chr3:23959054-23959104	HEEpiC	esophagus:	n/a
37	chr3:23960290-23960340	HepG2	liver:	n/a
38	chr3:23960290-23960340	BE2_C	brain:	n/a
39	chr3:23960290-23960340	HPAEpiC	pulmonary alveolar:	n/a
40	chr3:23959054-23959104	PrEC	prostate:	n/a
41	chr3:23959054-23959104	SKMC	muscle:	n/a
42	chr3:23959054-23959104	NT2-D1	testis:	n/a
43	chr3:23960290-23960340	HCPEpiC	choroid plexus:	n/a
44	chr3:23959054-23959104	HCM	heart:	n/a
45	chr3:23959054-23959104	HAEpiC	amniotic membrane:	n/a
46	chr3:23960290-23960340	ECC-1	luminal epithelium:	n/a
47	chr3:23959054-23959104	HUVEC	blood vessel:	n/a
48	chr3:23959054-23959104	T-47D	breast:	n/a
49	chr3:23960290-23960340	Hela-S3	cervix:	n/a
50	chr3:23959054-23959104	HCPEpiC	choroid plexus:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62358928..62359477-chr3:23958548..23959210,2	Hela-S3	cervix:
2	chr3:23928269..23930887-chr3:23960946..23963532,2	MCF-7	breast:
3	chr3:23960526..23962863-chr3:24013920..24016141,2	K562	blood:
4	chr3:23957476..23960072-chr3:25467685..25470119,2	K562	blood:
5	chr3:23960325..23963916-chr3:24723703..24727555,4	MCF-7	breast:
6	chr17:7387027..7387912-chr3:23958534..23959086,2	HCT-116	colon:
7	chr3:23846543..23848626-chr3:23961090..23963497,2	K562	blood:
8	chr3:23845393..23848355-chr3:23958587..23960710,4	K562	blood:
9	chr3:12873721..12876260-chr3:23958650..23961334,2	K562	blood:
10	chr17:58167241..58170093-chr3:23957521..23960210,2	MCF-7	breast:
11	chr15:78441071..78441786-chr3:23959166..23959779,2	Hela-S3	cervix:
12	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:
13	chr15:42787482..42788209-chr3:23958299..23959137,2	Hela-S3	cervix:
14	chr3:23742842..23745448-chr3:23959508..23961357,2	K562	blood:
15	chr3:23956080..23959048-chr3:23995915..23997492,2	MCF-7	breast:
16	chr3:23957534..23959919-chr3:25823926..25825755,2	K562	blood:
17	chr3:23960619..23962438-chr3:24535920..24537440,2	MCF-7	breast:
18	chr3:23845112..23848622-chr3:23958029..23961906,4	K562	blood:
19	chr16:1661843..1662391-chr3:23958190..23959085,2	Hela-S3	cervix:
20	chr3:23957572..23960051-chr3:23995970..23999234,5	MCF-7	breast:
21	chr3:23961179..23963059-chr3:24534695..24537090,2	K562	blood:
22	chr12:76425682..76426603-chr3:23958326..23959064,2	HCT-116	colon:
23	chr3:23905396..23907030-chr3:23960105..23962888,2	K562	blood:
24	chr3:23852479..23855481-chr3:23956917..23960502,4	MCF-7	breast:
25	chr3:23960922..23962761-chr3:24002838..24004607,2	K562	blood:
26	chr3:23051768..23053551-chr3:23960276..23962039,2	K562	blood:
27	chr3:23958569..23960911-chr3:24534140..24537048,3	MCF-7	breast:
28	chr3:23748425..23751412-chr3:23960441..23962908,2	K562	blood:
29	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
30	chr3:23958447..23959124-chr7:139025718..139026246,2	Hela-S3	cervix:
31	chr3:23846380..23850116-chr3:23956700..23960461,6	MCF-7	breast:
32	chr1:203059673..203062550-chr3:23957552..23960185,2	MCF-7	breast:
33	chr3:23848988..23853074-chr3:23957156..23960234,5	K562	blood:
34	chr3:23958536..23961065-chr3:24535525..24538143,3	K562	blood:
35	chr3:23958135..23959121-chrX:47003925..47004575,2	NB4	blood:
36	chr12:49524707..49525421-chr3:23958490..23959051,2	Hela-S3	cervix:
37	chr3:23850301..23853237-chr3:23957517..23960615,4	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RPL15	hsa-miR-92a-3p	chr3:23961126-23961133
2	RPL15	hsa-miR-92a-3p	chr3:23961112-23961133

Variant related genes	Relation type
NKIRAS1	TF binding region
RPL15	TF binding region
NKIRAS1	CpG island
RPL15	CpG island
ENSG00000164898	chromatin interactions
ENSG00000151093	chromatin interactions
ENSG00000007545	chromatin interactions
ENSG00000187535	chromatin interactions
ENSG00000257839	chromatin interactions
ENSG00000151092	chromatin interactions
ENSG00000272263	chromatin interactions
ENSG00000182872	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000147123	chromatin interactions
ENSG00000077092	chromatin interactions
ENSG00000163485	chromatin interactions
ENSG00000149016	chromatin interactions
ENSG00000223791	chromatin interactions
ENSG00000261040	chromatin interactions
ENSG00000166411	chromatin interactions
ENSG00000092531	chromatin interactions
ENSG00000151090	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000228791	chromatin interactions
ENSG00000197885	chromatin interactions
ENSG00000255508	chromatin interactions
ENSG00000170142	chromatin interactions
ENSG00000269955	chromatin interactions
ENSG00000174738	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567421250	chr3:23958991-23958992	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
2	rs532533815	chr3:23959006-23959007	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
3	rs111230172	chr3:23959015-23959016	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
4	rs191106792	chr3:23959032-23959033	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
5	rs538804364	chr3:23959037-23959038	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
6	rs553824056	chr3:23959044-23959045	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
7	rs573703271	chr3:23959063-23959064	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
8	rs372658456	chr3:23959087-23959088	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
9	rs572302289	chr3:23959089-23959090	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
10	rs112769435	chr3:23959127-23959128	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs560830084	chr3:23959174-23959175	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs183657138	chr3:23959192-23959193	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs543517797	chr3:23959214-23959215	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs564973213	chr3:23959217-23959218	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs116177228	chr3:23959223-23959224	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs34958485	chr3:23959239-23959240	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs56222205	chr3:23959257-23959258	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs527936972	chr3:23959259-23959260	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs113931562	chr3:23959288-23959289	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs368552682	chr3:23959302-23959303	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs186806469	chr3:23959307-23959308	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs372207088	chr3:23959310-23959311	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs374895871	chr3:23959311-23959312	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs368314767	chr3:23959313-23959314	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs199591542	chr3:23959337-23959338	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs372215459	chr3:23959343-23959344	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs567287618	chr3:23959350-23959351	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs537969564	chr3:23959371-23959372	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs35629664	chr3:23959425-23959426	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs571705839	chr3:23959473-23959474	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs369956511	chr3:23959527-23959528	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs369302129	chr3:23959545-23959546	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs553886431	chr3:23959550-23959551	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs542578077	chr3:23959572-23959573	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs572260705	chr3:23959590-23959591	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs556595694	chr3:23959738-23959739	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs568648252	chr3:23959743-23959744	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs146071240	chr3:23959744-23959745	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs554630460	chr3:23959766-23959767	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs576136214	chr3:23959792-23959793	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs113395170	chr3:23959881-23959882	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs373101152	chr3:23959906-23959907	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs139041613	chr3:23959907-23959908	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs36038704	chr3:23959913-23959914	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	mRNA abundance
45	rs369227929	chr3:23959921-23959922	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs560692338	chr3:23959927-23959928	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs192491916	chr3:23959935-23959936	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs149401472	chr3:23959998-23959999	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs35608037	chr3:23960001-23960002	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs146413350	chr3:23960032-23960033	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23956800-23959200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:23956800-23959400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:23956800-23959400	Active TSS	Brain Angular Gyrus	brain
4	chr3:23957000-23959400	Active TSS	Colon Smooth Muscle	Colon
5	chr3:23957000-23959600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr3:23957000-23959600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr3:23957000-23959600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:23957000-23960400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:23957000-23960600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:23957000-23960600	Active TSS	Right Atrium	heart
11	chr3:23957200-23959400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr3:23957200-23959600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:23957200-23959600	Active TSS	Stomach Smooth Muscle	stomach
14	chr3:23957200-23959600	Active TSS	HSMMtube	muscle
15	chr3:23957200-23960200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:23957200-23960800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:23957400-23959000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:23957400-23959200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr3:23957400-23959400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:23957400-23959400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:23957400-23959400	Active TSS	HSMM	muscle
22	chr3:23957400-23959600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:23957400-23959600	Active TSS	Brain Anterior Caudate	brain
24	chr3:23957400-23959600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr3:23957400-23959600	Active TSS	Fetal Stomach	stomach
26	chr3:23957400-23959600	Active TSS	Left Ventricle	heart
27	chr3:23957400-23959600	Active TSS	Rectal Smooth Muscle	rectum
28	chr3:23957400-23959600	Active TSS	GM12878-XiMat	blood
29	chr3:23957400-23959600	Active TSS	NHDF-Ad	bronchial
30	chr3:23957400-23959800	Active TSS	Ovary	ovary
31	chr3:23957400-23960800	Active TSS	Psoas Muscle	Psoas
32	chr3:23957400-23960800	Active TSS	Right Ventricle	heart
33	chr3:23957600-23959200	Active TSS	NHEK	skin
34	chr3:23957600-23959400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr3:23957600-23959400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:23957600-23959400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:23957600-23959400	Active TSS	Brain Substantia Nigra	brain
38	chr3:23957600-23959400	Active TSS	Fetal Brain Female	brain
39	chr3:23957600-23959400	Active TSS	Fetal Lung	lung
40	chr3:23957600-23959400	Active TSS	NHLF	lung
41	chr3:23957600-23959600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:23957600-23959600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr3:23957600-23959600	Active TSS	Liver	Liver
44	chr3:23957600-23959600	Active TSS	Brain Hippocampus Middle	brain
45	chr3:23957600-23959600	Active TSS	Fetal Brain Male	brain
46	chr3:23957600-23959600	Active TSS	Fetal Intestine Large	intestine
47	chr3:23957600-23959600	Active TSS	Fetal Muscle Trunk	muscle
48	chr3:23957600-23959600	Active TSS	Placenta	Placenta
49	chr3:23957600-23959600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr3:23957600-23959600	Bivalent/Poised TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links