Variant report

Variant	rs617165
Chromosome Location	chr10:5924942-5924943
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
2	chr10:5487428..5490413-chr10:5923426..5925612,2	MCF-7	breast:
3	chr10:5915609..5918597-chr10:5924591..5926431,2	K562	blood:
4	chr10:5912111..5919800-chr10:5923492..5927477,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1052420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1323659	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1707228	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253422	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs2274030	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2669124	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs2669127	0.93[CEU][hapmap]
rs2761269	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942348	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2985043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584000	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs587620	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593026	0.88[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs596156	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs599394	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600706	0.88[CEU][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs608197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609269	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs610335	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622488	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625073	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs626040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627303	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628175	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628234	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628844	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631538	0.88[ASN][1000 genomes]
rs631947	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs644474	0.88[CEU][hapmap];0.92[CHB][hapmap];0.91[ASN][1000 genomes]
rs646406	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs646490	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs647391	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs661411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664577	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs664842	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665364	0.85[JPT][hapmap]
rs666831	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs672219	0.88[ASN][1000 genomes]
rs672624	0.85[ASN][1000 genomes]
rs673496	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs673678	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675416	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs679610	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs682555	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs684557	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs687191	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071536	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs7075778	0.93[CEU][hapmap]
rs7091817	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs792342	0.96[ASN][1000 genomes]
rs792347	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs792349	0.96[ASN][1000 genomes]
rs811561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329328	0.96[ASN][1000 genomes]
rs9424023	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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 miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv5654	chr10:5868365-5930634	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv466723	chr10:5920836-5930579	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv549905	chr10:5920836-5930579	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv466724	chr10:5920836-5938544	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	nsv549906	chr10:5920836-5938544	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5903400-5925000	Weak transcription	Fetal Kidney	kidney
2	chr10:5911600-5926800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:5913000-5929800	Weak transcription	Fetal Heart	heart
4	chr10:5913000-5929800	Weak transcription	Psoas Muscle	Psoas
5	chr10:5914000-5929600	Weak transcription	NHLF	lung
6	chr10:5915600-5930000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr10:5915600-5930000	Weak transcription	HUVEC	blood vessel
8	chr10:5915800-5930000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:5915800-5930200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr10:5916200-5925200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:5916200-5926400	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:5916200-5927600	Strong transcription	Fetal Intestine Small	intestine
13	chr10:5916200-5928200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr10:5916200-5929000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:5916200-5929400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:5916200-5929800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:5916200-5929800	Strong transcription	Fetal Intestine Large	intestine
18	chr10:5916400-5928200	Strong transcription	Fetal Brain Female	brain
19	chr10:5916400-5929200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:5916400-5929800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr10:5916600-5928400	Weak transcription	Small Intestine	intestine
22	chr10:5916600-5929400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:5916600-5930600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:5916800-5930200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr10:5917800-5927800	Strong transcription	Thymus	Thymus
26	chr10:5917800-5928600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:5918000-5929800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:5918000-5930000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr10:5918200-5926200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr10:5918200-5927800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr10:5918200-5928400	Strong transcription	Fetal Thymus	thymus
32	chr10:5918200-5929200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:5918200-5929600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr10:5918200-5930200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:5918600-5925000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:5918600-5927600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr10:5918800-5929000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr10:5919200-5930000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:5919400-5929000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:5919600-5926400	Strong transcription	Osteobl	bone
41	chr10:5919600-5928200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:5919600-5929800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:5920200-5925800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:5920200-5929800	Weak transcription	Right Ventricle	heart
45	chr10:5920200-5930600	Weak transcription	Aorta	Aorta
46	chr10:5920400-5925800	Weak transcription	HSMM	muscle
47	chr10:5920400-5929800	Weak transcription	Colonic Mucosa	Colon
48	chr10:5920400-5930000	Weak transcription	Hela-S3	cervix
49	chr10:5920600-5925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:5920600-5925000	Weak transcription	Pancreas	Pancrea

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