Variant report

Variant	rs7834148
Chromosome Location	chr8:62503456-62503457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62502517..62504519-chr8:62506579..62509041,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11782345	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs11984541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574196	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2350585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882460	0.84[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs60403482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471962	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66516703	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66795450	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017995	0.84[ASN][1000 genomes]
rs7822250	0.88[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs7836217	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7834148	FAM110B	cis	parietal	SCAN
rs7834148	BHLHE22	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
4	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
5	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
6	chr8:62480000-62503600	Weak transcription	NHEK	skin
7	chr8:62484200-62503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:62489000-62505000	Weak transcription	Fetal Brain Male	brain
9	chr8:62489000-62508200	Weak transcription	Left Ventricle	heart
10	chr8:62489200-62505800	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:62493000-62508400	Weak transcription	Lung	lung
13	chr8:62493000-62508400	Weak transcription	Spleen	Spleen
14	chr8:62493200-62505400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:62493200-62508200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:62493200-62512400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:62493600-62504600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:62493600-62505200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:62493800-62505600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:62494000-62504000	Weak transcription	Fetal Stomach	stomach
21	chr8:62494200-62503600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:62494200-62503600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:62494200-62503600	Strong transcription	A549	lung
24	chr8:62494200-62503800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:62494200-62504000	Weak transcription	Fetal Intestine Large	intestine
26	chr8:62494200-62504000	Weak transcription	Fetal Intestine Small	intestine
27	chr8:62494200-62504000	Weak transcription	HMEC	breast
28	chr8:62494200-62504200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:62494200-62504200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:62494200-62505400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:62494200-62505400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:62494200-62505600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:62494200-62505600	Weak transcription	Fetal Brain Female	brain
34	chr8:62494200-62505600	Weak transcription	HepG2	liver
35	chr8:62494200-62505800	Weak transcription	Brain Germinal Matrix	brain
36	chr8:62494200-62508400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:62494200-62508600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:62494200-62511600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:62494200-62511800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:62494200-62512400	Weak transcription	Brain Anterior Caudate	brain
41	chr8:62494200-62519400	Weak transcription	Esophagus	oesophagus
42	chr8:62494200-62520400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:62494200-62521400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:62494600-62504000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:62494800-62503600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:62494800-62508200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:62495400-62529000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:62495600-62508400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:62495600-62525800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:62496800-62508200	Weak transcription	Placenta	Placenta

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