Variant report

Variant	rs3735717
Chromosome Location	chr8:102680405-102680406
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	chr8:102679834..102682568-chr8:103211962..103214498,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10093614	0.89[EUR][1000 genomes]
rs11782150	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs11787378	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs11994917	0.93[EUR][1000 genomes]
rs12681368	0.92[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs13270960	0.82[GIH][hapmap];0.82[TSI][hapmap]
rs13271310	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13272106	0.92[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs13272868	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2096551	0.94[EUR][1000 genomes]
rs2186390	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2211914	0.93[EUR][1000 genomes]
rs2387621	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs3735715	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734038	0.91[EUR][1000 genomes]
rs56306107	0.83[EUR][1000 genomes]
rs62517426	0.85[EUR][1000 genomes]
rs6468791	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs7828300	0.92[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3735717	RIMS2	cis	parietal	SCAN
rs3735717	ALPK2	trans	cerebellum	SCAN
rs3735717	ODF1	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102651400-102681200	Weak transcription	Stomach Mucosa	stomach
2	chr8:102667600-102682800	Weak transcription	Aorta	Aorta
3	chr8:102670600-102680600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:102670800-102699000	Weak transcription	Right Ventricle	heart
5	chr8:102672800-102682400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:102676200-102680600	Strong transcription	Placenta	Placenta
7	chr8:102676200-102682200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:102676400-102681200	Strong transcription	Fetal Intestine Large	intestine
9	chr8:102676400-102681200	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr8:102676600-102680600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:102676600-102681200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr8:102676600-102681400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:102676600-102682200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:102676800-102681200	Strong transcription	Gastric	stomach
15	chr8:102676800-102681400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:102678600-102680600	Strong transcription	Fetal Intestine Small	intestine
17	chr8:102678800-102680800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:102678800-102681000	Strong transcription	Esophagus	oesophagus
19	chr8:102678800-102681400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:102678800-102683800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:102679000-102682600	Weak transcription	Lung	lung
22	chr8:102679200-102680600	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr8:102679400-102681000	Weak transcription	Colonic Mucosa	Colon
24	chr8:102679400-102681800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:102679800-102680600	Enhancers	Fetal Heart	heart
26	chr8:102679800-102681000	ZNF genes & repeats	NHEK	skin
27	chr8:102679800-102681400	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:102679800-102683200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr8:102679800-102683800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr8:102680000-102681000	Genic enhancers	Fetal Stomach	stomach
31	chr8:102680000-102681200	ZNF genes & repeats	Pancreas	Pancrea
32	chr8:102680000-102681800	Weak transcription	HMEC	breast
33	chr8:102680000-102698000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:102680200-102682600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:102680200-102683400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:102680400-102682200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:102680400-102682400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:102680400-102682600	Weak transcription	Duodenum Mucosa	Duodenum

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