Variant report

Variant	rs6986305
Chromosome Location	chr8:126607959-126607960
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126589816..126592471-chr8:126605971..126608086,2	MCF-7	breast:
2	chr8:126440732..126445779-chr8:126600349..126612045,20	MCF-7	breast:
3	chr8:126606627..126608562-chr8:126611107..126612785,3	MCF-7	breast:
4	chr8:126585008..126593535-chr8:126599853..126611131,18	MCF-7	breast:
5	chr8:126601013..126605207-chr8:126607092..126609721,3	MCF-7	breast:
6	chr8:126606536..126608218-chr8:126626974..126628718,2	MCF-7	breast:
7	chr8:126440111..126444206-chr8:126606253..126610724,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10086276	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10086636	1.00[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10094725	1.00[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111011	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031497	0.81[CEU][hapmap]
rs1031498	0.81[CEU][hapmap]
rs12334935	0.96[EUR][1000 genomes]
rs12386920	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12543922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546476	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547829	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1454616	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1454619	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1454620	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1963945	0.81[CEU][hapmap]
rs28393360	0.93[EUR][1000 genomes]
rs28550378	0.99[EUR][1000 genomes]
rs4870946	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871621	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6980895	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6981560	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][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]
rs6986139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][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]
rs6996614	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6996809	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7001406	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008590	1.00[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.99[EUR][1000 genomes]
rs7012744	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7012936	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs729797	0.84[CEU][hapmap]
rs897158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897160	0.92[YRI][hapmap]
rs897161	1.00[CEU][hapmap];0.92[YRI][hapmap];0.89[EUR][1000 genomes]
rs9297718	0.96[CEU][hapmap];0.97[EUR][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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015513	chr8:126602536-126618074	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6986305	ZNF572	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126602200-126608600	Enhancers	Placenta	Placenta
2	chr8:126604000-126608800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr8:126605400-126608400	Enhancers	Fetal Intestine Large	intestine
4	chr8:126605400-126608400	Enhancers	Fetal Intestine Small	intestine
5	chr8:126605600-126608800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr8:126605800-126608000	Weak transcription	HSMMtube	muscle
7	chr8:126606000-126608200	Enhancers	Stomach Mucosa	stomach
8	chr8:126606200-126608200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:126606600-126608400	Enhancers	Colonic Mucosa	Colon
10	chr8:126606600-126608600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:126606600-126608600	Enhancers	Small Intestine	intestine
12	chr8:126606600-126613800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:126606800-126608000	Weak transcription	Lung	lung
14	chr8:126606800-126608000	Weak transcription	Right Atrium	heart
15	chr8:126606800-126609000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:126606800-126609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:126606800-126610400	Weak transcription	NHEK	skin
18	chr8:126606800-126610800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:126606800-126612800	Weak transcription	Spleen	Spleen
20	chr8:126606800-126613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:126606800-126614800	Weak transcription	Osteobl	bone
22	chr8:126607000-126608000	Weak transcription	Esophagus	oesophagus
23	chr8:126607000-126608200	Enhancers	Left Ventricle	heart
24	chr8:126607400-126608400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr8:126607400-126608400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:126607400-126608600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:126607400-126608800	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:126607600-126608200	Enhancers	Duodenum Mucosa	Duodenum
29	chr8:126607600-126608200	Enhancers	Right Ventricle	heart
30	chr8:126607600-126609200	Enhancers	Fetal Heart	heart
31	chr8:126607800-126608000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:126607800-126608000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:126607800-126608200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:126607800-126608200	Enhancers	Gastric	stomach
35	chr8:126607800-126608400	Enhancers	Pancreas	Pancrea
36	chr8:126607800-126608400	Enhancers	Psoas Muscle	Psoas
37	chr8:126607800-126608800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr8:126607800-126609000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:126607800-126614000	Weak transcription	Hela-S3	cervix
40	chr8:126607800-126614600	Weak transcription	A549	lung

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