Variant report

Variant	rs1036317
Chromosome Location	chr2:110367188-110367189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr2:110367018-110367870	HCT-116	colon:	n/a	chr2:110367562-110367575 chr2:110367562-110367575 chr2:110367560-110367578 chr2:110367564-110367573 chr2:110367564-110367578
2	CHD2	chr2:110366900-110367373	GM12878	blood:	n/a	n/a
3	WRNIP1	chr2:110366992-110367382	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:110366894-110367520	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:110366912-110367653	HUVEC	blood vessel:	n/a	n/a
6	SP1	chr2:110367056-110367712	HCT-116	colon:	n/a	n/a
7	JUND	chr2:110367049-110367750	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr2:110367067-110367894	HCT-116	colon:	n/a	chr2:110367552-110367563 chr2:110367551-110367562
9	ZNF143	chr2:110367030-110367253	GM12878	blood:	n/a	n/a
10	JUND	chr2:110367082-110367751	HCT-116	colon:	n/a	n/a
11	JUND	chr2:110366974-110367768	HCT-116	colon:	n/a	n/a
12	RUNX3	chr2:110367164-110367582	GM12878	blood:	n/a	n/a
13	JUND	chr2:110367041-110367717	SK-N-SH	brain:	n/a	n/a
14	TEAD4	chr2:110367021-110367773	SK-N-SH	brain:	n/a	n/a
15	TBP	chr2:110366558-110367416	GM12878	blood:	n/a	n/a
16	GATA3	chr2:110366999-110367849	SK-N-SH	brain:	n/a	chr2:110367350-110367360 chr2:110367498-110367506
17	STAT3	chr2:110366993-110367708	Hela-S3	cervix:	n/a	n/a
18	EP300	chr2:110366974-110367640	Hela-S3	cervix:	n/a	chr2:110367549-110367563 chr2:110367603-110367610 chr2:110367297-110367311 chr2:110367348-110367362 chr2:110367243-110367257 chr2:110367349-110367358
19	CEBPB	chr2:110367142-110367668	HCT-116	colon:	n/a	chr2:110367552-110367563 chr2:110367551-110367562
20	EP300	chr2:110367154-110367622	GM12878	blood:	n/a	chr2:110367549-110367563 chr2:110367603-110367610 chr2:110367297-110367311 chr2:110367348-110367362 chr2:110367243-110367257 chr2:110367349-110367358
21	TBP	chr2:110366958-110367687	Hela-S3	cervix:	n/a	n/a
22	ZNF384	chr2:110366677-110367799	GM12878	blood:	n/a	n/a
23	GATA3	chr2:110367018-110367748	SK-N-SH	brain:	n/a	chr2:110367350-110367360 chr2:110367498-110367506
24	MXI1	chr2:110366917-110367544	GM12878	blood:	n/a	n/a
25	TCF7L2	chr2:110366929-110367617	PANC-1	pancreas:	n/a	n/a
26	FOSL1	chr2:110366977-110367745	HCT-116	colon:	n/a	n/a
27	CEBPB	chr2:110367027-110367742	Hela-S3	cervix:	n/a	chr2:110367552-110367563 chr2:110367551-110367562
28	CHD1	chr2:110367063-110367533	GM12878	blood:	n/a	n/a
29	MTA3	chr2:110367131-110367587	GM12878	blood:	n/a	n/a
30	MAX	chr2:110366929-110367706	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr2:110367075-110367642	Hela-S3	cervix:	n/a	n/a
32	NFIC	chr2:110366841-110367741	GM12878	blood:	n/a	n/a
33	JUN	chr2:110367130-110367679	HUVEC	blood vessel:	n/a	chr2:110367549-110367562
34	POLR2A	chr2:110367124-110367592	HUVEC	blood vessel:	n/a	n/a
35	GTF2F1	chr2:110367022-110367591	Hela-S3	cervix:	n/a	n/a
36	EP300	chr2:110366984-110367741	SK-N-SH	brain:	n/a	chr2:110367549-110367563 chr2:110367603-110367610 chr2:110367297-110367311 chr2:110367348-110367362 chr2:110367243-110367257 chr2:110367349-110367358
37	NRF1	chr2:110366787-110367268	GM12878	blood:	n/a	n/a
38	SP1	chr2:110367028-110367735	HCT-116	colon:	n/a	n/a
39	POLR2A	chr2:110367159-110367599	SK-N-SH	brain:	n/a	n/a
40	CUX1	chr2:110366835-110367343	GM12878	blood:	n/a	n/a
41	FOS	chr2:110367096-110367566	HUVEC	blood vessel:	n/a	n/a
42	PBX3	chr2:110367117-110367729	SK-N-SH	brain:	n/a	n/a
43	KAP1	chr2:110366989-110367780	U2OS	brain:	n/a	n/a
44	SIN3AK20	chr2:110367124-110367677	HCT-116	colon:	n/a	n/a
45	FOSL2	chr2:110367018-110367717	SK-N-SH	brain:	n/a	n/a
46	TCF12	chr2:110366851-110367779	SK-N-SH	brain:	n/a	n/a
47	SETDB1	chr2:110367031-110367876	U2OS	brain:	n/a	n/a
48	KAP1	chr2:110367116-110367785	HEK293	kidney:	n/a	n/a
49	SPI1	chr2:110366956-110367207	GM12878	blood:	n/a	chr2:110367105-110367112
50	MAX	chr2:110366983-110367674	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110367141-110367191	ovcar-3	ovarian:	n/a
2	chr2:110367141-110367191	CMK	blood:	n/a
3	chr2:110367141-110367191	GM12892	blood:	n/a
4	chr2:110367141-110367191	HEEpiC	esophagus:	n/a
5	chr2:110367141-110367191	HUVEC	blood vessel:	n/a
6	chr2:110367141-110367191	K562	blood:	n/a
7	chr2:110367141-110367191	HPAEpiC	pulmonary alveolar:	n/a
8	chr2:110367141-110367191	PFSK-1	brain:	n/a
9	chr2:110367141-110367191	HRCEpiC	kidney:	n/a
10	chr2:110367141-110367191	PrEC	prostate:	n/a
11	chr2:110367141-110367191	HCPEpiC	choroid plexus:	n/a
12	chr2:110367141-110367191	A549	lung:	n/a
13	chr2:110367141-110367191	PANC-1	pancreas:	n/a
14	chr2:110367141-110367191	U87	brain:	n/a
15	chr2:110367141-110367191	HAEpiC	amniotic membrane:	n/a
16	chr2:110367141-110367191	GM12891	blood:	n/a
17	chr2:110367141-110367191	H1-hESC	embryonic stem cell:	embryo
18	chr2:110367141-110367191	HCT-116	colon:	n/a
19	chr2:110367141-110367191	HIPEpiC	eye:	n/a
20	chr2:110367141-110367191	NHDF-neo	bronchial:	n/a
21	chr2:110367141-110367191	SKMC	muscle:	n/a
22	chr2:110367141-110367191	HCF	heart:	n/a
23	chr2:110367141-110367191	AoSMC	blood vessel:	n/a
24	chr2:110367141-110367191	ECC-1	luminal epithelium:	n/a
25	chr2:110367141-110367191	HL-60	blood:	n/a
26	chr2:110367141-110367191	HNPCEpiC	eye:	n/a
27	chr2:110367141-110367191	NHBE	bronchial:	n/a
28	chr2:110367141-110367191	Jurkat	blood:	n/a
29	chr2:110367141-110367191	LNCaP	prostate:	n/a
30	chr2:110367141-110367191	T-47D	breast:	n/a
31	chr2:110367141-110367191	SK-N-SH_RA	brain:	n/a
32	chr2:110367141-110367191	Hepatocyte	liver:	n/a
33	chr2:110367141-110367191	AG09309	skin:	n/a
34	chr2:110367141-110367191	IMR90	lung:	fetal
35	chr2:110367141-110367191	HepG2	liver:	n/a
36	chr2:110367141-110367191	HCM	heart:	n/a
37	chr2:110367141-110367191	HMEC	breast:	n/a
38	chr2:110367141-110367191	MCF-7	breast:	n/a
39	chr2:110367141-110367191	HRE	kidney:	n/a
40	chr2:110367141-110367191	AG04450	lung:	fetal
41	chr2:110367141-110367191	SK-N-SH	brain:	n/a
42	chr2:110367141-110367191	ProgFib	skin:	n/a
43	chr2:110367141-110367191	AG10803	skin:	n/a
44	chr2:110367141-110367191	BJ	skin:	n/a
45	chr2:110367141-110367191	Caco-2	colon:	n/a
46	chr2:110367141-110367191	HRPEpiC	eye:	n/a
47	chr2:110367141-110367191	GM06990	blood:	n/a
48	chr2:110367141-110367191	NH-A	brain:	n/a
49	chr2:110367141-110367191	GM12878	blood:	n/a
50	chr2:110367141-110367191	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110365749..110368166-chr2:110372173..110374120,2	MCF-7	breast:
2	chr2:110363990..110367269-chr2:110379500..110381525,3	MCF-7	breast:

Variant related genes	Relation type
SOWAHC	TF binding region
ENSG00000230696	TF binding region
SOWAHC	CpG island
ENSG00000230696	CpG island

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10195867	1.00[ASN][1000 genomes]
rs1036318	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496432	1.00[ASN][1000 genomes]
rs13006297	1.00[ASN][1000 genomes]
rs13412327	1.00[ASN][1000 genomes]
rs1811388	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28441405	0.83[EUR][1000 genomes]
rs28445980	0.83[EUR][1000 genomes]
rs28464093	1.00[ASN][1000 genomes]
rs28553892	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28570680	1.00[ASN][1000 genomes]
rs28599496	0.96[ASN][1000 genomes]
rs28612440	0.83[EUR][1000 genomes]
rs28696274	0.84[EUR][1000 genomes]
rs28719680	0.82[EUR][1000 genomes]
rs3213866	1.00[ASN][1000 genomes]
rs34111852	0.84[EUR][1000 genomes]
rs34269507	1.00[ASN][1000 genomes]
rs34311530	1.00[ASN][1000 genomes]
rs34441132	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34517320	1.00[ASN][1000 genomes]
rs34821058	1.00[ASN][1000 genomes]
rs35120088	1.00[ASN][1000 genomes]
rs35223862	1.00[ASN][1000 genomes]
rs35392016	1.00[ASN][1000 genomes]
rs35550721	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35955221	1.00[ASN][1000 genomes]
rs4482487	1.00[ASN][1000 genomes]
rs4953721	1.00[ASN][1000 genomes]
rs4953729	1.00[ASN][1000 genomes]
rs4953730	1.00[ASN][1000 genomes]
rs4953788	1.00[ASN][1000 genomes]
rs4953847	0.84[EUR][1000 genomes]
rs4953848	0.84[EUR][1000 genomes]
rs4953849	0.84[EUR][1000 genomes]
rs4953853	0.84[EUR][1000 genomes]
rs55794045	1.00[ASN][1000 genomes]
rs56265736	0.81[EUR][1000 genomes]
rs56794190	1.00[ASN][1000 genomes]
rs58031484	1.00[ASN][1000 genomes]
rs6594050	0.84[EUR][1000 genomes]
rs6594053	0.83[EUR][1000 genomes]
rs6594054	0.82[EUR][1000 genomes]
rs6709945	1.00[ASN][1000 genomes]
rs6719215	1.00[ASN][1000 genomes]
rs6725792	1.00[ASN][1000 genomes]
rs6737736	0.84[EUR][1000 genomes]
rs6751785	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6760577	0.83[EUR][1000 genomes]
rs72824788	1.00[ASN][1000 genomes]
rs72824789	0.96[ASN][1000 genomes]
rs72824796	1.00[ASN][1000 genomes]
rs72824800	1.00[ASN][1000 genomes]
rs72824802	1.00[ASN][1000 genomes]
rs72826816	0.81[EUR][1000 genomes]
rs72826817	0.82[EUR][1000 genomes]
rs753492	1.00[ASN][1000 genomes]
rs7565483	1.00[ASN][1000 genomes]
rs7577865	1.00[ASN][1000 genomes]
rs9330317	1.00[ASN][1000 genomes]
rs9330321	1.00[ASN][1000 genomes]
rs9750931	1.00[ASN][1000 genomes]
rs9752531	1.00[ASN][1000 genomes]
rs9798179	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv829617	chr2:110359857-110380012	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110319200-110367400	Weak transcription	HSMMtube	muscle
2	chr2:110324000-110370400	Weak transcription	Esophagus	oesophagus
3	chr2:110329000-110369000	Weak transcription	Ovary	ovary
4	chr2:110329200-110369400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:110350400-110369200	Weak transcription	Fetal Stomach	stomach
6	chr2:110352600-110369200	Weak transcription	Fetal Brain Female	brain
7	chr2:110352800-110369400	Weak transcription	Brain Germinal Matrix	brain
8	chr2:110358800-110370200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:110359600-110369400	Weak transcription	Fetal Kidney	kidney
10	chr2:110359800-110369200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:110359800-110370200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:110359800-110370600	Weak transcription	Brain Angular Gyrus	brain
13	chr2:110360800-110369200	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:110362400-110369200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:110362400-110370200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:110362600-110369000	Weak transcription	Psoas Muscle	Psoas
17	chr2:110362600-110370400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:110363200-110367600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:110363400-110367200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:110363800-110367200	Weak transcription	Fetal Lung	lung
21	chr2:110363800-110369000	Weak transcription	Placenta	Placenta
22	chr2:110363800-110369200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:110363800-110369800	Weak transcription	Right Ventricle	heart
24	chr2:110364000-110369200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:110364400-110368000	Enhancers	Fetal Intestine Small	intestine
26	chr2:110364600-110367600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:110364600-110367600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:110364600-110369000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:110364600-110369200	Weak transcription	Lung	lung
30	chr2:110364800-110367800	Active TSS	GM12878-XiMat	blood
31	chr2:110365200-110367800	Enhancers	Rectal Smooth Muscle	rectum
32	chr2:110365400-110367800	Enhancers	Fetal Intestine Large	intestine
33	chr2:110365600-110369400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:110366000-110367600	Enhancers	Colon Smooth Muscle	Colon
35	chr2:110366000-110370400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:110366200-110367400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:110366400-110367600	Flanking Active TSS	NH-A	brain
38	chr2:110366600-110367200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr2:110366600-110367600	Flanking Active TSS	NHEK	skin
40	chr2:110366600-110367600	Flanking Active TSS	Osteobl	bone
41	chr2:110366600-110367800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:110366600-110367800	Flanking Active TSS	HUVEC	blood vessel
43	chr2:110366800-110367200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:110366800-110367200	Enhancers	Brain Substantia Nigra	brain
45	chr2:110366800-110367400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:110366800-110367400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:110366800-110367400	Active TSS	Aorta	Aorta
48	chr2:110366800-110367400	Active TSS	A549	lung
49	chr2:110366800-110367600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:110366800-110367600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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