Variant report

Variant	rs9382691
Chromosome Location	chr6:57085829-57085830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57085596..57088404-chr6:57180850..57182470,2	MCF-7	breast:
2	chr6:57033881..57038745-chr6:57081255..57088571,10	K562	blood:
3	chr6:57035573..57039236-chr6:57085191..57088680,5	K562	blood:
4	chr6:57084710..57087719-chr6:57179458..57182091,4	MCF-7	breast:
5	chr6:57035895..57038812-chr6:57084387..57086435,2	MCF-7	breast:
6	chr6:56881789..56884377-chr6:57083895..57085876,2	K562	blood:

Variant related genes	Relation type
ENSG00000146143	Chromatin interaction
ENSG00000226803	Chromatin interaction
ENSG00000112208	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1002996	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1040461	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12175661	0.86[AMR][1000 genomes]
rs1556245	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16888316	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1993118	0.86[AMR][1000 genomes]
rs2273919	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3757296	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4510664	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58705880	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61740375	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62415861	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62415862	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62415863	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62415864	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62415865	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62415878	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62415879	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62415880	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62415883	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62415884	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62415885	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62415933	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62417430	0.89[AMR][1000 genomes]
rs6459179	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6907653	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6932278	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72867038	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72867054	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72867059	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72867062	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7749960	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7766234	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7771328	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9296860	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9296861	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9349844	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9349845	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9357936	0.82[AMR][1000 genomes]
rs9357939	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9357940	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9357941	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9367706	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9367707	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9367709	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9367710	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9367711	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9367713	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9367714	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9370559	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9370561	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9370562	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9370563	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9370567	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9370568	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9382684	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9382685	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9382686	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9396254	0.82[AMR][1000 genomes]
rs9396255	0.89[AMR][1000 genomes]
rs9396258	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9396260	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9396261	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9396263	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9464416	0.92[ASN][1000 genomes]
rs9464418	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9464419	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9475768	0.83[AMR][1000 genomes]
rs9475774	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9475778	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9475781	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9475782	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9475783	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9475788	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv462949	chr6:56973902-57098973	ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv603190	chr6:56973902-57098973	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57039000-57086000	Weak transcription	Thymus	Thymus
2	chr6:57056600-57086000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:57064400-57086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:57070600-57086000	Weak transcription	HSMMtube	muscle
5	chr6:57078200-57086000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:57079400-57086000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:57079600-57086200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:57080200-57086000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:57080200-57086000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:57080200-57086000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:57081600-57086000	Weak transcription	Ovary	ovary
12	chr6:57082400-57086000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:57083200-57087600	Active TSS	Colon Smooth Muscle	Colon
14	chr6:57083400-57087400	Active TSS	K562	blood
15	chr6:57083600-57087800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:57084000-57087400	Active TSS	NH-A	brain
17	chr6:57084000-57087400	Active TSS	NHLF	lung
18	chr6:57084200-57086400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:57084200-57087200	Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:57084400-57087200	Active TSS	Rectal Smooth Muscle	rectum
21	chr6:57084400-57087600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:57084400-57087600	Active TSS	Stomach Smooth Muscle	stomach
23	chr6:57084600-57087600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:57084600-57087600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:57084800-57087600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr6:57084800-57088000	Active TSS	GM12878-XiMat	blood
27	chr6:57085000-57086000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr6:57085000-57086400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:57085000-57087800	Active TSS	A549	lung
30	chr6:57085000-57088000	Active TSS	Aorta	Aorta
31	chr6:57085000-57088200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr6:57085200-57086000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:57085400-57086600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:57085400-57087200	Active TSS	HMEC	breast
35	chr6:57085400-57087200	Active TSS	HSMM	muscle
36	chr6:57085400-57087600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:57085400-57087600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:57085400-57087600	Active TSS	Duodenum Mucosa	Duodenum
39	chr6:57085400-57087600	Active TSS	NHDF-Ad	bronchial
40	chr6:57085400-57088000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:57085600-57086000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr6:57085600-57086400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:57085600-57087200	Active TSS	NHEK	skin
44	chr6:57085600-57087200	Active TSS	Osteobl	bone
45	chr6:57085600-57087400	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:57085600-57087600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr6:57085600-57087800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:57085600-57088000	Active TSS	H1 Cell Line	embryonic stem cell
49	chr6:57085800-57086000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:57085800-57086000	Enhancers	Primary T cells from cord blood	blood

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