Variant report

Variant	rs11257371
Chromosome Location	chr10:5699876-5699877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5596247..5598987-chr10:5697785..5700131,2	MCF-7	breast:
2	chr10:5553621..5555160-chr10:5697721..5700140,2	MCF-7	breast:
3	chr10:5535856..5541549-chr10:5699267..5704336,7	MCF-7	breast:
4	chr10:5691457..5694675-chr10:5697614..5700530,3	K562	blood:
5	chr10:5668838..5677612-chr10:5695867..5704411,15	MCF-7	breast:
6	chr10:5697980..5700094-chr10:5707565..5709255,2	K562	blood:
7	chr10:5586583..5591953-chr10:5698330..5703488,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240577	Chromatin interaction
ENSG00000178372	Chromatin interaction
ENSG00000196372	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11254968	0.92[EUR][1000 genomes]
rs11254973	0.92[EUR][1000 genomes]
rs11254986	0.92[EUR][1000 genomes]
rs11255033	0.92[EUR][1000 genomes]
rs11255036	0.92[EUR][1000 genomes]
rs11255037	0.92[EUR][1000 genomes]
rs11255038	0.92[EUR][1000 genomes]
rs11255075	0.92[EUR][1000 genomes]
rs11255511	0.92[EUR][1000 genomes]
rs11255587	0.92[EUR][1000 genomes]
rs11255592	0.92[EUR][1000 genomes]
rs11255641	0.92[EUR][1000 genomes]
rs11255736	0.92[EUR][1000 genomes]
rs11255935	0.92[EUR][1000 genomes]
rs11255947	0.92[EUR][1000 genomes]
rs11256040	0.92[EUR][1000 genomes]
rs11256331	0.92[EUR][1000 genomes]
rs11256654	0.92[EUR][1000 genomes]
rs11256767	1.00[EUR][1000 genomes]
rs11257244	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11592964	1.00[AFR][1000 genomes]
rs11594153	1.00[AFR][1000 genomes]
rs11595457	1.00[AFR][1000 genomes]
rs12354690	0.92[EUR][1000 genomes]
rs1575	0.92[EUR][1000 genomes]
rs17137747	0.92[EUR][1000 genomes]
rs17142002	0.92[EUR][1000 genomes]
rs17142061	0.92[EUR][1000 genomes]
rs17142275	0.92[EUR][1000 genomes]
rs2137422	1.00[AFR][1000 genomes]
rs41290335	0.92[EUR][1000 genomes]
rs41290337	0.92[EUR][1000 genomes]
rs41290339	0.92[EUR][1000 genomes]
rs4749325	1.00[AFR][1000 genomes]
rs4749407	1.00[AFR][1000 genomes]
rs58027065	0.92[EUR][1000 genomes]
rs60879535	0.92[EUR][1000 genomes]
rs9645604	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv519582	chr10:5646103-5720067	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv8599	chr10:5649129-5719928	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1050965	chr10:5649760-5717125	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1044330	chr10:5652006-5717125	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv975791	chr10:5652225-5711077	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv466720	chr10:5652277-5715401	Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv549892	chr10:5652277-5715401	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1037709	chr10:5652739-5717125	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv470917	chr10:5654167-5715401	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv818742	chr10:5654167-5715401	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv1036492	chr10:5656962-5711147	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv540473	chr10:5656962-5711147	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv1036253	chr10:5657162-5711008	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv540474	chr10:5657162-5711008	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv1040422	chr10:5665458-5714630	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv1043251	chr10:5665458-5716555	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv1052519	chr10:5665458-5717125	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv1038690	chr10:5665458-5720424	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
24	nsv1039650	chr10:5665458-5720512	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	nsv1041684	chr10:5665458-5722299	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	esv2760149	chr10:5665458-5724382	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
27	nsv1054909	chr10:5665458-5724382	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
28	nsv1049620	chr10:5665458-5725208	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
29	nsv442170	chr10:5665462-5717127	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
30	esv2753700	chr10:5665774-5716555	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS 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	20 gene(s)	inside rSNPs	diseases
31	esv34623	chr10:5665774-5716858	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
32	esv35082	chr10:5665774-5716858	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
33	esv2754101	chr10:5665774-5716858	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
34	esv2755272	chr10:5665774-5716858	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
35	nsv1038750	chr10:5668208-5711008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
36	nsv540475	chr10:5668208-5711008	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
37	nsv894808	chr10:5685301-5712087	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
38	nsv894809	chr10:5696482-5711220	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5672000-5701600	Weak transcription	NH-A	brain
2	chr10:5677600-5705600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:5682400-5700800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:5682400-5701200	Weak transcription	Small Intestine	intestine
5	chr10:5682600-5701400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:5682800-5700800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:5683000-5701400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:5683000-5701600	Weak transcription	Osteobl	bone
9	chr10:5683600-5701600	Weak transcription	HMEC	breast
10	chr10:5684000-5700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:5684000-5701600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr10:5684000-5701600	Weak transcription	NHEK	skin
13	chr10:5684200-5700800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:5684200-5700800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:5684200-5701600	Weak transcription	A549	lung
16	chr10:5684200-5707600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:5684400-5707400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:5686200-5700800	Weak transcription	Fetal Lung	lung
19	chr10:5687600-5707400	Weak transcription	Fetal Kidney	kidney
20	chr10:5688200-5701400	Weak transcription	NHDF-Ad	bronchial
21	chr10:5688400-5701000	Weak transcription	Psoas Muscle	Psoas
22	chr10:5688800-5707600	Weak transcription	Aorta	Aorta
23	chr10:5689000-5707200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:5690200-5700800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr10:5690800-5700800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr10:5690800-5701400	Weak transcription	Hela-S3	cervix
27	chr10:5691000-5700800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr10:5691000-5702800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:5691200-5701600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr10:5691200-5701800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:5691200-5705800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:5691400-5700800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr10:5692400-5701200	Weak transcription	Brain Germinal Matrix	brain
34	chr10:5692800-5701400	Weak transcription	NHLF	lung
35	chr10:5693000-5704200	Enhancers	Liver	Liver
36	chr10:5693200-5707400	Weak transcription	Brain Substantia Nigra	brain
37	chr10:5693400-5701200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:5693400-5701200	Weak transcription	Placenta	Placenta
39	chr10:5693400-5701400	Weak transcription	Right Ventricle	heart
40	chr10:5693400-5701800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:5693400-5705400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:5693400-5707400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr10:5693400-5707600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:5693600-5700000	Enhancers	Fetal Thymus	thymus
45	chr10:5693600-5700800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:5693600-5706200	Weak transcription	Colon Smooth Muscle	Colon
47	chr10:5693600-5707400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr10:5693800-5701600	Weak transcription	Brain Anterior Caudate	brain
49	chr10:5693800-5701800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr10:5694800-5701400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links