Variant report

Variant	rs7771585
Chromosome Location	chr6:74484137-74484138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74482061..74484557-chr6:74512371..74514530,2	MCF-7	breast:
2	chr6:74482741..74484396-chr6:74495727..74498178,3	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10498895	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10805974	0.84[CEU][hapmap]
rs10943129	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12203043	1.00[MEX][hapmap]
rs12662725	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1392913	0.83[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.92[AMR][1000 genomes]
rs17760906	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1973480	0.88[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2033736	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2047670	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2118330	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2118331	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2118332	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2164755	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2351527	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2351528	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4342388	0.92[CEU][hapmap];0.85[AMR][1000 genomes]
rs4706555	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4706556	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4708077	0.83[MEX][hapmap]
rs4708081	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4708082	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4708083	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4708088	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5023688	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6453698	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6453699	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6453700	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6917630	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6918612	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6921996	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6922211	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6932012	0.92[CEU][hapmap]
rs7738437	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7742435	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7748871	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7762080	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7762433	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7762638	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7763367	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7774119	1.00[MEX][hapmap]
rs7776411	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9293940	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9293941	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9442954	0.87[AMR][1000 genomes]
rs9442955	0.91[CEU][hapmap];0.87[AMR][1000 genomes]
rs9442956	1.00[MEX][hapmap]
rs9442960	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9442961	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9442963	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9447014	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9447015	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9447016	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9447017	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9447019	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9447025	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9447027	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9447029	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
2	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS 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 lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	172 gene(s)	inside rSNPs	diseases
5	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv528148	chr6:74468860-74493432	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7771585	C6orf221	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
2	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
3	chr6:74442400-74493400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:74444000-74498600	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:74465200-74484800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:74467400-74486200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:74468000-74492200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:74469800-74502800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr6:74471800-74486600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:74474000-74489400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:74474800-74498200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:74476000-74491200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
15	chr6:74477400-74543400	Weak transcription	Lung	lung
16	chr6:74479800-74484200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:74480000-74490600	Weak transcription	Primary T cells from cord blood	blood
18	chr6:74480200-74493800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:74481800-74490600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:74483200-74484600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr6:74483200-74484800	Enhancers	NHDF-Ad	bronchial
22	chr6:74483400-74484600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:74483400-74484600	Flanking Active TSS	A549	lung
24	chr6:74483400-74484600	Enhancers	HUVEC	blood vessel
25	chr6:74483400-74484600	Enhancers	NHEK	skin
26	chr6:74483400-74484800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:74483400-74484800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:74483400-74484800	Enhancers	HMEC	breast
29	chr6:74483400-74485400	Enhancers	Liver	Liver
30	chr6:74483600-74484200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:74483600-74484800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:74483800-74484200	Enhancers	Colon Smooth Muscle	Colon
33	chr6:74483800-74484400	Flanking Active TSS	Osteobl	bone
34	chr6:74483800-74484600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:74483800-74484800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:74483800-74484800	Enhancers	Hela-S3	cervix
37	chr6:74483800-74484800	Enhancers	NHLF	lung
38	chr6:74484000-74484200	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:74484000-74484400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:74484000-74484400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:74484000-74484400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:74484000-74484400	Enhancers	Pancreas	Pancrea
43	chr6:74484000-74484600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:74484000-74484600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:74484000-74484600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:74484000-74484600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:74484000-74484600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:74484000-74484600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:74484000-74484600	Enhancers	Placenta	Placenta
50	chr6:74484000-74484600	Enhancers	Left Ventricle	heart

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