Variant report

Variant	rs6992430
Chromosome Location	chr8:102632573-102632574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102620661..102623620-chr8:102631815..102633375,2	MCF-7	breast:
2	chr8:102503334..102507333-chr8:102630459..102637316,8	MCF-7	breast:
3	chr8:102626664..102629265-chr8:102631491..102634297,2	MCF-7	breast:
4	chr8:102630738..102634360-chr8:102636671..102639236,3	MCF-7	breast:
5	chr8:102632325..102634884-chr8:102636281..102637988,2	MCF-7	breast:
6	chr8:102631475..102633589-chr8:102642485..102645272,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10955264	0.86[ASN][1000 genomes]
rs10955266	0.84[CHD][hapmap]
rs12681226	0.83[JPT][hapmap]
rs13275653	1.00[CEU][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs1357984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867971	0.82[TSI][hapmap]
rs1917727	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1917728	1.00[CEU][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2032118	0.87[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs2032119	0.83[JPT][hapmap]
rs2032120	0.83[JPT][hapmap]
rs2226399	0.88[CEU][hapmap]
rs579505	0.82[TSI][hapmap]
rs682769	0.90[CHD][hapmap];0.83[JPT][hapmap]
rs755468	0.84[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757285	chr8:102609474-102649681	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759635	chr8:102609474-102649681	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2761235	chr8:102613079-102646059	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6992430	ODF1	cis	parietal	SCAN
rs6992430	ALPK2	trans	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:102616800-102643800	Weak transcription	Gastric	stomach
3	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:102620800-102637800	Weak transcription	HUVEC	blood vessel
6	chr8:102621200-102635800	Weak transcription	Pancreas	Pancrea
7	chr8:102623400-102635200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:102624200-102635400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:102624600-102635200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:102624800-102632800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:102625400-102635400	Weak transcription	Esophagus	oesophagus
12	chr8:102625400-102635400	Weak transcription	HMEC	breast
13	chr8:102627600-102635800	Weak transcription	Fetal Kidney	kidney
14	chr8:102627800-102639000	Weak transcription	Stomach Mucosa	stomach
15	chr8:102627800-102643800	Weak transcription	Fetal Intestine Large	intestine
16	chr8:102628000-102635200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:102628200-102643600	Weak transcription	Fetal Intestine Small	intestine
18	chr8:102630400-102644000	Weak transcription	Lung	lung
19	chr8:102630800-102641600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:102630800-102642800	Weak transcription	Fetal Stomach	stomach
21	chr8:102631400-102635400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:102631400-102635800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:102631600-102633000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:102631600-102637000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:102631800-102633000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:102631800-102633400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:102631800-102637600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr8:102632000-102632600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:102632000-102632600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:102632000-102633200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:102632200-102632600	Genic enhancers	Rectal Mucosa Donor 31	rectum
32	chr8:102632200-102633000	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr8:102632200-102633200	Strong transcription	Placenta	Placenta
34	chr8:102632200-102634200	Strong transcription	NHEK	skin
35	chr8:102632400-102638800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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