Variant report

Variant	rs7830822
Chromosome Location	chr8:95773014-95773015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95730258..95731934-chr8:95772803..95775070,2	MCF-7	breast:
2	chr8:95772422..95774937-chr8:95778657..95780435,3	K562	blood:
3	chr8:95772604..95775506-chr8:95784480..95786073,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10101523	0.92[GIH][hapmap]
rs10102580	0.81[EUR][1000 genomes]
rs10112090	0.99[ASN][1000 genomes]
rs11779347	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11998371	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12056667	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12114686	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12234995	0.82[GIH][hapmap]
rs3924088	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4078348	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4335102	0.99[ASN][1000 genomes]
rs4371975	0.93[ASN][1000 genomes]
rs4524755	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.99[ASN][1000 genomes]
rs4529434	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4574819	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734287	0.93[ASN][1000 genomes]
rs4735316	0.93[ASN][1000 genomes]
rs6471485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017015	1.00[JPT][hapmap]
rs7830795	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.99[ASN][1000 genomes]

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7830822	FAM92A1	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95732800-95780400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:95733000-95784400	Weak transcription	Esophagus	oesophagus
3	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
4	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
5	chr8:95733200-95774600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:95733400-95783800	Weak transcription	Gastric	stomach
8	chr8:95733400-95784800	Weak transcription	Small Intestine	intestine
9	chr8:95733600-95779400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:95733600-95782600	Weak transcription	Brain Substantia Nigra	brain
11	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:95733800-95783600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
14	chr8:95734000-95783600	Weak transcription	Fetal Kidney	kidney
15	chr8:95734200-95784600	Weak transcription	Brain Angular Gyrus	brain
16	chr8:95735400-95787800	Weak transcription	Hela-S3	cervix
17	chr8:95737800-95777800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:95740800-95782200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:95740800-95782800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:95740800-95799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:95741000-95778000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:95741200-95778800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:95741200-95783600	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:95741200-95783800	Weak transcription	HMEC	breast
25	chr8:95744000-95790800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:95745000-95782200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:95746800-95777200	Weak transcription	Osteobl	bone
28	chr8:95752400-95781800	Weak transcription	NH-A	brain
29	chr8:95752400-95809200	Weak transcription	NHLF	lung
30	chr8:95752600-95774600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:95752600-95779400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:95752600-95780200	Weak transcription	HSMM	muscle
33	chr8:95752600-95784200	Weak transcription	A549	lung
34	chr8:95752600-95793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:95752600-95805600	Weak transcription	NHEK	skin
36	chr8:95752800-95774200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:95753600-95791200	Weak transcription	Primary B cells from cord blood	blood
38	chr8:95754200-95778200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:95756800-95774000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:95756800-95774400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:95757800-95774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:95757800-95783200	Weak transcription	GM12878-XiMat	blood
43	chr8:95761000-95774200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:95761000-95782800	Weak transcription	Thymus	Thymus
45	chr8:95761000-95783800	Weak transcription	HepG2	liver
46	chr8:95761200-95774000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:95761800-95782800	Weak transcription	Lung	lung
48	chr8:95761800-95784600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:95761800-95785400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:95761800-95803600	Weak transcription	H9 Cell Line	embryonic stem cell

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