Variant report

Variant	rs2791346
Chromosome Location	chr8:131332932-131332933
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131332115..131335468-chr8:131338120..131341741,4	MCF-7	breast:
2	chr8:131330257..131333007-chr8:131345961..131348000,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10086454	0.89[CEU][hapmap]
rs1008819	0.89[CEU][hapmap]
rs10090106	0.88[CEU][hapmap]
rs10090231	0.89[CEU][hapmap]
rs10090767	0.89[CEU][hapmap]
rs10099586	0.89[CEU][hapmap]
rs10099820	1.00[JPT][hapmap]
rs11774659	0.85[YRI][hapmap]
rs11992932	0.89[CEU][hapmap]
rs11992957	0.88[CEU][hapmap]
rs11993714	0.89[CEU][hapmap]
rs11993741	0.89[CEU][hapmap]
rs11997462	0.89[CEU][hapmap]
rs12680697	0.89[CEU][hapmap]
rs1340019	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340020	0.84[CEU][hapmap]
rs16893265	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16904256	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1978551	0.89[CEU][hapmap]
rs2670876	0.89[ASW][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2670881	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2670882	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2670886	1.00[JPT][hapmap]
rs2791339	1.00[JPT][hapmap]
rs2791349	0.89[CEU][hapmap];0.81[GIH][hapmap];0.80[EUR][1000 genomes]
rs2791354	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2994295	1.00[JPT][hapmap]
rs2994298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3924350	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4498576	0.85[JPT][hapmap]
rs4574884	0.89[CEU][hapmap]
rs4733570	1.00[JPT][hapmap]
rs6984815	0.84[CEU][hapmap];0.83[GIH][hapmap]
rs7812299	0.89[CEU][hapmap]
rs7812469	0.89[CEU][hapmap]
rs7823146	0.89[CEU][hapmap]
rs7825499	1.00[JPT][hapmap]
rs7838372	1.00[JPT][hapmap]
rs9694314	0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.96[ASN][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2791346	FAM84B	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
2	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:131315600-131353400	Weak transcription	Dnd41	blood
4	chr8:131319400-131333600	Weak transcription	HepG2	liver
5	chr8:131322000-131335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus
7	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
8	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:131325200-131335800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:131325200-131336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:131326200-131333400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:131326400-131333200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:131326400-131336200	Weak transcription	Hela-S3	cervix
14	chr8:131326600-131333600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:131326800-131336400	Weak transcription	Fetal Lung	lung
16	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:131327000-131333400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:131327000-131333400	Weak transcription	Brain Germinal Matrix	brain
19	chr8:131327000-131333800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:131327000-131334200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:131327000-131334800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:131327200-131337800	Weak transcription	Fetal Kidney	kidney
24	chr8:131328400-131334800	Weak transcription	Liver	Liver
25	chr8:131329000-131337000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:131329200-131335200	Weak transcription	Small Intestine	intestine
27	chr8:131329800-131333800	Enhancers	Psoas Muscle	Psoas
28	chr8:131330200-131334800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:131330200-131334800	Weak transcription	Stomach Mucosa	stomach
30	chr8:131330200-131335000	Weak transcription	Left Ventricle	heart
31	chr8:131330200-131335200	Weak transcription	Right Ventricle	heart
32	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
33	chr8:131330400-131333400	Weak transcription	HSMM	muscle
34	chr8:131330400-131336200	Weak transcription	Fetal Heart	heart
35	chr8:131330600-131334800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:131330600-131335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:131330600-131336400	Weak transcription	HMEC	breast
38	chr8:131330800-131333000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:131330800-131333000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:131330800-131333400	Weak transcription	HSMMtube	muscle
41	chr8:131330800-131334600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:131330800-131335000	Weak transcription	Right Atrium	heart
43	chr8:131330800-131338400	Weak transcription	Placenta	Placenta
44	chr8:131331000-131333200	Weak transcription	Brain Anterior Caudate	brain
45	chr8:131331000-131333400	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:131331000-131334200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:131331000-131334800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:131331000-131335000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:131331000-131335200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:131331000-131335600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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