Variant report

Variant	rs2386661
Chromosome Location	chr10:5670275-5670276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5533027..5543195-chr10:5659124..5672516,23	MCF-7	breast:
2	chr10:5586407..5588620-chr10:5668279..5670654,2	MCF-7	breast:
3	chr10:5655720..5657948-chr10:5668389..5670960,2	MCF-7	breast:
4	chr10:5668872..5673126-chr10:5707160..5709989,4	MCF-7	breast:
5	chr10:5593662..5595801-chr10:5669870..5671896,3	MCF-7	breast:
6	chr10:5484376..5493176-chr10:5653017..5671828,35	MCF-7	breast:
7	chr10:5667968..5670611-chr10:5726547..5729408,2	K562	blood:
8	chr10:5666540..5670442-chr10:5670663..5674489,4	MCF-7	breast:
9	chr10:5486259..5490037-chr10:5669493..5671214,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178372	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000240577	Chromatin interaction
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1002936	0.82[CEU][hapmap]
rs10795723	0.87[EUR][1000 genomes]
rs10905489	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10905519	0.87[EUR][1000 genomes]
rs10905789	0.80[EUR][1000 genomes]
rs11255996	0.87[EUR][1000 genomes]
rs1132293	0.86[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs1317516	0.86[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs1317517	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs2386650	0.86[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs2386651	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs2386652	0.87[EUR][1000 genomes]
rs4749834	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs4749853	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4749922	0.87[EUR][1000 genomes]
rs7073741	0.85[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7092383	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs7924228	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 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	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv894806	chr10:5643511-5670275	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1054888	chr10:5645033-5694612	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	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
10	nsv894807	chr10:5647942-5691135	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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

Variant related diseases (count:1)

Disease	PMID	Source
Breast cancer	23468962	GWAS catalog

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5658000-5673600	Weak transcription	Left Ventricle	heart
2	chr10:5662200-5670600	Weak transcription	Fetal Lung	lung
3	chr10:5665200-5671800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:5665200-5681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:5665400-5670400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:5665400-5672600	Weak transcription	Lung	lung
7	chr10:5665400-5673800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:5665400-5680400	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:5665400-5680600	Weak transcription	Fetal Brain Female	brain
10	chr10:5665600-5670400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:5665600-5670400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:5665600-5670400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:5665600-5670600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr10:5665600-5670600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr10:5665600-5670600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr10:5665600-5670600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:5665600-5670800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr10:5665600-5670800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:5665600-5670800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr10:5665600-5671000	Weak transcription	Brain Substantia Nigra	brain
21	chr10:5665600-5671000	Weak transcription	A549	lung
22	chr10:5665600-5673400	Weak transcription	HMEC	breast
23	chr10:5665600-5680400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr10:5665600-5680400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:5665600-5680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:5665600-5681800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:5665600-5698600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr10:5666800-5670400	Enhancers	Fetal Muscle Leg	muscle
29	chr10:5667000-5670400	Enhancers	Fetal Muscle Trunk	muscle
30	chr10:5667200-5674200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:5668600-5670400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:5668600-5670400	Enhancers	Liver	Liver
33	chr10:5668600-5670400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:5668600-5670400	Weak transcription	Psoas Muscle	Psoas
35	chr10:5668600-5670400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr10:5668600-5672000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:5668800-5670400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr10:5668800-5670600	Weak transcription	Stomach Mucosa	stomach
39	chr10:5668800-5672000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr10:5668800-5680400	Weak transcription	Gastric	stomach
41	chr10:5669000-5670600	Weak transcription	NH-A	brain
42	chr10:5669000-5676400	Enhancers	Pancreas	Pancrea
43	chr10:5669400-5671000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr10:5669400-5674200	Weak transcription	Spleen	Spleen
45	chr10:5669600-5670400	Enhancers	Fetal Intestine Large	intestine
46	chr10:5669600-5671000	Flanking Active TSS	HepG2	liver
47	chr10:5669600-5672200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:5669800-5670400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr10:5669800-5671000	Enhancers	Aorta	Aorta
50	chr10:5669800-5671600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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