Variant report

Variant	rs7769712
Chromosome Location	chr6:132193395-132193396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132127860..132129483-chr6:132191417..132193942,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197594	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1044498	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs11154645	0.84[ASN][1000 genomes]
rs4141767	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4897548	0.90[ASN][1000 genomes]
rs6569761	0.82[JPT][hapmap]
rs6916495	0.85[GIH][hapmap]
rs6919751	0.82[JPT][hapmap]
rs6926728	0.82[JPT][hapmap]
rs6926970	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs7749493	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs7767502	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs9493113	0.89[ASN][1000 genomes]
rs9493116	0.81[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv886670	chr6:132071193-132193395	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv886671	chr6:132071193-132203432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132147600-132199200	Weak transcription	Fetal Stomach	stomach
2	chr6:132162200-132211000	Weak transcription	Fetal Kidney	kidney
3	chr6:132163000-132213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:132170600-132201800	Weak transcription	Left Ventricle	heart
5	chr6:132170800-132211200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:132171200-132209400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:132172400-132196800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:132172800-132198200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:132176800-132197000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:132177000-132198200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:132179000-132197000	Weak transcription	Ovary	ovary
12	chr6:132180600-132213200	Strong transcription	Liver	Liver
13	chr6:132181400-132196800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:132181400-132199200	Weak transcription	Aorta	Aorta
15	chr6:132182000-132214200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:132184400-132209400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:132184800-132213200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:132185000-132198800	Weak transcription	Fetal Intestine Small	intestine
19	chr6:132185200-132198200	Weak transcription	Placenta	Placenta
20	chr6:132185200-132217200	Weak transcription	Psoas Muscle	Psoas
21	chr6:132185400-132194000	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:132185600-132197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:132185600-132201600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:132185600-132201800	Weak transcription	Fetal Intestine Large	intestine
25	chr6:132185800-132201000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:132185800-132212600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:132186200-132196800	Weak transcription	NH-A	brain
28	chr6:132186200-132199400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:132186200-132213800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:132186600-132212400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:132186800-132194200	Weak transcription	HSMM	muscle
32	chr6:132188000-132196800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:132188000-132199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:132188200-132201000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:132188600-132195600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:132189000-132199200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:132189400-132198200	Weak transcription	NHLF	lung
38	chr6:132190000-132196800	Weak transcription	Osteobl	bone
39	chr6:132190000-132210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:132190000-132211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:132190000-132213200	Strong transcription	HepG2	liver
42	chr6:132190200-132194200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:132190200-132214000	Weak transcription	NHDF-Ad	bronchial
44	chr6:132190600-132216200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:132190800-132194000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:132191600-132196800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr6:132191800-132195200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:132191800-132196000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:132192200-132202000	Weak transcription	Gastric	stomach
50	chr6:132192200-132213800	Weak transcription	Pancreas	Pancrea

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