Variant report

Variant	rs6939501
Chromosome Location	chr6:117773164-117773165
allele	A/G
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	FOS	chr6:117772901-117773256	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:117772811-117773261	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr6:117772407-117773228	Hela-S3	cervix:	n/a	chr6:117773023-117773036
4	MYC	chr6:117772263-117773298	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr6:117772917-117773167	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr6:117772909-117773211	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr6:117772728-117773219	IMR90	lung:	n/a	chr6:117773023-117773036

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:117771548..117773609-chr6:117923390..117926576,3	MCF-7	breast:

Variant related genes	Relation type
DCBLD1	TF binding region
ENSG00000047932	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10046392	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10080784	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10081005	1.00[CEU][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]
rs11153660	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756910	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332806	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358848	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358849	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079156	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079163	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079166	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079171	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079173	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079179	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17079180	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079182	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079183	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079187	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17570613	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs17633009	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs17634067	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229079	1.00[ASN][1000 genomes]
rs2883416	1.00[ASN][1000 genomes]
rs34721599	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4266519	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4266520	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45533035	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640916	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56360447	1.00[ASN][1000 genomes]
rs59267160	1.00[ASN][1000 genomes]
rs61655408	1.00[ASN][1000 genomes]
rs67104483	0.83[AMR][1000 genomes]
rs6913494	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914947	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920159	1.00[ASN][1000 genomes]
rs6926675	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932793	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6939463	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940229	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs72951617	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951624	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951630	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951644	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951645	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955785	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955788	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955789	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955795	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955798	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955799	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955802	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957508	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957515	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957517	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957518	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957520	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957530	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957531	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957537	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957541	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959655	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959668	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961434	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961449	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961469	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965306	1.00[ASN][1000 genomes]
rs72965312	1.00[ASN][1000 genomes]
rs72965317	1.00[ASN][1000 genomes]
rs72965321	1.00[ASN][1000 genomes]
rs72969416	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969421	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969428	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969431	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969434	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969437	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969454	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969456	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762063	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320600	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320601	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320602	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9320603	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9481706	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481710	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481711	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481712	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481713	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481714	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481716	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9481717	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9481718	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9481724	1.00[ASN][1000 genomes]
rs9489154	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489156	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489159	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489160	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489161	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489167	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489168	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489169	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489170	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489171	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489172	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489174	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489175	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489176	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489177	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489178	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489181	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489182	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489183	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489184	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489187	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489194	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9489195	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9489197	0.96[AFR][1000 genomes]
rs9489198	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9489201	1.00[CEU][hapmap]
rs9489209	1.00[ASN][1000 genomes]
rs9986462	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv521325	chr6:117772143-117776185	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117768000-117773400	Enhancers	NHEK	skin
2	chr6:117768200-117773200	Enhancers	Osteobl	bone
3	chr6:117768200-117773600	Enhancers	HMEC	breast
4	chr6:117769000-117773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:117769200-117773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:117769600-117773400	Enhancers	HSMM	muscle
7	chr6:117769600-117779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:117769800-117773600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:117769800-117773600	Enhancers	HSMMtube	muscle
10	chr6:117770000-117773600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:117770000-117778000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:117770600-117773400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:117770800-117773400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:117771000-117773200	Enhancers	Duodenum Mucosa	Duodenum
15	chr6:117771000-117773600	Enhancers	Fetal Intestine Large	intestine
16	chr6:117771200-117773600	Enhancers	A549	lung
17	chr6:117771200-117773600	Enhancers	Hela-S3	cervix
18	chr6:117771400-117773200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:117771800-117773600	Enhancers	Fetal Intestine Small	intestine
20	chr6:117772000-117773200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:117772000-117773200	Weak transcription	NHLF	lung
22	chr6:117772200-117773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:117772400-117773200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:117772400-117773400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:117772600-117773200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:117772600-117773200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:117772600-117773200	Enhancers	Adipose Nuclei	Adipose
28	chr6:117772600-117773600	Enhancers	HepG2	liver
29	chr6:117772600-117775400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:117772800-117773200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:117772800-117773200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
32	chr6:117772800-117773400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:117772800-117773400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:117772800-117773600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr6:117772800-117773600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:117772800-117778000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:117773000-117773400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:117773000-117773600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:117773000-117773600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:117773000-117773600	Enhancers	Placenta	Placenta
41	chr6:117773000-117773600	Enhancers	Fetal Stomach	stomach
42	chr6:117773000-117773600	Enhancers	Small Intestine	intestine
43	chr6:117773000-117778400	Weak transcription	Stomach Mucosa	stomach

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