Variant report

Variant	rs7764930
Chromosome Location	chr6:128687555-128687556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128686496..128688892-chr6:128692532..128694177,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10428737	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.80[YRI][hapmap]
rs11965122	0.87[GIH][hapmap]
rs11966128	1.00[GIH][hapmap]
rs1339193	1.00[CEU][hapmap]
rs1416517	0.93[YRI][hapmap]
rs1612415	0.84[CEU][hapmap]
rs17055564	1.00[GIH][hapmap]
rs17055611	1.00[GIH][hapmap]
rs17055612	1.00[GIH][hapmap]
rs17055617	1.00[GIH][hapmap]
rs17055619	1.00[GIH][hapmap]
rs17055717	1.00[GIH][hapmap]
rs17055719	1.00[GIH][hapmap]
rs17055854	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.80[YRI][hapmap]
rs17343887	1.00[GIH][hapmap]
rs17430298	0.82[EUR][1000 genomes]
rs17456385	1.00[GIH][hapmap]
rs17456601	1.00[GIH][hapmap]
rs17459362	1.00[CEU][hapmap]
rs1891146	1.00[CEU][hapmap];0.80[YRI][hapmap]
rs1891147	1.00[CEU][hapmap]
rs2027311	1.00[GIH][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap];0.93[YRI][hapmap]
rs4466261	0.91[CEU][hapmap]
rs6939023	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs722796	1.00[CEU][hapmap];0.80[YRI][hapmap]
rs72972098	0.82[EUR][1000 genomes]
rs72974018	0.92[EUR][1000 genomes]
rs72974028	0.97[EUR][1000 genomes]
rs72974031	0.97[EUR][1000 genomes]
rs7748155	1.00[ASW][hapmap];0.91[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7773248	1.00[GIH][hapmap]
rs9321114	1.00[GIH][hapmap];0.85[MEX][hapmap]
rs9372888	0.93[YRI][hapmap]
rs9375562	0.85[MEX][hapmap]
rs9402035	1.00[CHD][hapmap];0.85[MEX][hapmap]
rs946424	0.80[YRI][hapmap]
rs9482879	1.00[CHB][hapmap]
rs953549	0.92[CEU][hapmap]
rs961292	1.00[CEU][hapmap]

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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128673000-128687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:128675000-128688000	Weak transcription	Gastric	stomach
3	chr6:128678800-128697000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:128679600-128732000	Weak transcription	Left Ventricle	heart
5	chr6:128679800-128688000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:128679800-128697600	Weak transcription	HSMMtube	muscle
7	chr6:128680000-128688600	Weak transcription	NHDF-Ad	bronchial
8	chr6:128680000-128691400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:128680200-128687800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:128680200-128690200	Weak transcription	Brain Angular Gyrus	brain
11	chr6:128680400-128688600	Weak transcription	Psoas Muscle	Psoas
12	chr6:128680400-128689600	Weak transcription	Osteobl	bone
13	chr6:128681800-128695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:128684600-128689400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:128684600-128689600	Weak transcription	Ovary	ovary
16	chr6:128684600-128696600	Weak transcription	HSMM	muscle
17	chr6:128684800-128687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:128684800-128688000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:128684800-128688400	Weak transcription	Small Intestine	intestine
20	chr6:128684800-128688600	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:128684800-128688600	Weak transcription	NHLF	lung
22	chr6:128684800-128696400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:128685000-128689400	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:128685800-128689400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:128686200-128689800	Enhancers	Liver	Liver
26	chr6:128686200-128692600	Enhancers	HepG2	liver
27	chr6:128686400-128689200	Weak transcription	Brain Substantia Nigra	brain
28	chr6:128686600-128689000	Enhancers	Stomach Mucosa	stomach
29	chr6:128686600-128696600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:128686800-128687600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:128686800-128695400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:128687000-128688400	Weak transcription	Brain Anterior Caudate	brain
33	chr6:128687000-128688400	Weak transcription	Right Ventricle	heart
34	chr6:128687000-128688600	Weak transcription	NHEK	skin
35	chr6:128687000-128693000	Enhancers	Fetal Intestine Large	intestine
36	chr6:128687000-128693000	Enhancers	Fetal Intestine Small	intestine
37	chr6:128687200-128688600	Weak transcription	A549	lung
38	chr6:128687200-128689200	Weak transcription	Fetal Lung	lung
39	chr6:128687200-128689400	Enhancers	Duodenum Mucosa	Duodenum
40	chr6:128687400-128689400	Weak transcription	Fetal Heart	heart

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