Variant report

Variant	rs2211914
Chromosome Location	chr8:102669667-102669668
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	chr8:102661081..102663898-chr8:102668064..102670538,3	MCF-7	breast:
2	chr8:102664289..102666765-chr8:102667718..102671185,4	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10093614	0.90[EUR][1000 genomes]
rs11782150	0.96[CEU][hapmap]
rs11787378	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11994917	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12549642	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12681368	0.96[CEU][hapmap]
rs13271310	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13272106	0.96[CEU][hapmap]
rs13272868	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16868198	0.81[CHB][hapmap];0.93[CHD][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs2096551	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2186390	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2387621	1.00[CEU][hapmap]
rs2387622	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3735713	0.89[GIH][hapmap];0.81[EUR][1000 genomes]
rs3735714	0.83[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735715	1.00[CEU][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3735717	0.96[CEU][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs4734038	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4734572	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4734573	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62517426	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6468791	0.92[CEU][hapmap]
rs7821380	0.82[JPT][hapmap]
rs7828300	0.96[CEU][hapmap]
rs9297308	0.80[CEU][hapmap]
rs9987401	0.80[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3401576	chr8:102640273-102724495	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2211914	ALPK2	trans	cerebellum	SCAN
rs2211914	NCALD	cis	parietal	SCAN
rs2211914	RIMS2	cis	parietal	SCAN
rs2211914	ODF1	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102644800-102674600	Weak transcription	Ovary	ovary
2	chr8:102651400-102681200	Weak transcription	Stomach Mucosa	stomach
3	chr8:102659200-102679400	Weak transcription	HMEC	breast
4	chr8:102661200-102678600	Weak transcription	Fetal Stomach	stomach
5	chr8:102661600-102678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:102661800-102678600	Weak transcription	Colonic Mucosa	Colon
7	chr8:102663000-102676400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:102664400-102676800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:102664400-102678600	Weak transcription	Fetal Intestine Small	intestine
10	chr8:102664800-102676800	Weak transcription	Gastric	stomach
11	chr8:102664800-102677000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:102665000-102670200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:102665000-102670200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:102665400-102676400	Weak transcription	Fetal Intestine Large	intestine
15	chr8:102667600-102682800	Weak transcription	Aorta	Aorta
16	chr8:102668200-102670800	Strong transcription	Pancreas	Pancrea
17	chr8:102668200-102671000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:102668200-102671200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr8:102668600-102670200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:102668600-102670400	Weak transcription	Esophagus	oesophagus
21	chr8:102668800-102670200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:102668800-102670200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:102668800-102674000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:102669000-102674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:102669200-102670200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:102669200-102670400	Weak transcription	NHEK	skin
27	chr8:102669200-102677000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:102669400-102670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:102669400-102670400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:102669400-102676400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:102669400-102676600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:102669400-102676600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:102669400-102676600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:102669600-102670200	Weak transcription	Placenta	Placenta

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