Variant report

Variant	rs7813347
Chromosome Location	chr8:90953208-90953209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90951564..90953771-chr8:90956012..90958611,2	MCF-7	breast:
2	chr8:90738336..90739847-chr8:90952483..90954708,2	MCF-7	breast:
3	chr8:90913113..90914905-chr8:90953004..90954786,2	MCF-7	breast:
4	chr8:90951003..90953709-chr8:90966366..90969265,2	K562	blood:
5	chr8:90947133..90948795-chr8:90952209..90955179,2	K562	blood:
6	chr8:90949264..90951319-chr8:90952287..90955579,3	K562	blood:
7	chr8:90953083..90955250-chr8:90994003..90995794,2	K562	blood:
8	chr8:90952356..90954443-chr8:90996403..90997947,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13312854	1.00[MEX][hapmap]
rs13312862	1.00[MEX][hapmap]
rs13312891	1.00[MEX][hapmap]
rs16900593	1.00[MEX][hapmap]
rs16900617	1.00[MEX][hapmap]
rs1805884	1.00[MEX][hapmap]
rs2308961	1.00[MEX][hapmap]
rs35542900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55739772	1.00[AMR][1000 genomes]
rs58085240	1.00[AMR][1000 genomes]
rs59639352	1.00[AMR][1000 genomes]
rs60379185	1.00[AMR][1000 genomes]
rs61608407	1.00[AMR][1000 genomes]
rs73696835	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696836	1.00[AMR][1000 genomes]
rs73696838	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696852	1.00[AMR][1000 genomes]
rs769417	1.00[MEX][hapmap]
rs7823648	1.00[MEX][hapmap]
rs7835616	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9969533	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7813347	FAM196A	trans	lymphoblastoid	seeQTL
rs7813347	CSTA	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915400-90966800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
3	chr8:90916000-90961400	Weak transcription	Fetal Heart	heart
4	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
5	chr8:90917600-90953600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:90925400-90956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:90925400-90970200	Weak transcription	Pancreas	Pancrea
10	chr8:90925400-90979200	Weak transcription	Gastric	stomach
11	chr8:90925600-90961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:90925600-90967200	Weak transcription	Colonic Mucosa	Colon
13	chr8:90925600-90975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:90927000-90978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:90927200-90964200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:90927600-90988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:90927800-90963800	Weak transcription	NHEK	skin
18	chr8:90927800-90969800	Weak transcription	Esophagus	oesophagus
19	chr8:90927800-90970200	Weak transcription	Spleen	Spleen
20	chr8:90927800-90970400	Weak transcription	Right Ventricle	heart
21	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:90928000-90965200	Weak transcription	Fetal Kidney	kidney
23	chr8:90928000-90970400	Weak transcription	Small Intestine	intestine
24	chr8:90929200-90961400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:90929400-90966000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:90931600-90965200	Weak transcription	HepG2	liver
27	chr8:90934000-90965400	Weak transcription	Fetal Brain Female	brain
28	chr8:90937200-90969800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:90937200-90970400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:90937200-90970400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:90937600-90954600	Weak transcription	Brain Anterior Caudate	brain
32	chr8:90937600-90961200	Weak transcription	Psoas Muscle	Psoas
33	chr8:90937600-90969400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:90937600-90970000	Weak transcription	Lung	lung
35	chr8:90937800-90953800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:90938200-90974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:90938400-90970000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:90938800-90963000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:90939000-90964800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:90941400-90970000	Weak transcription	Brain Germinal Matrix	brain
41	chr8:90942600-90977400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:90942600-90982600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr8:90942800-90970000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:90943200-90955400	Strong transcription	Primary B cells from cord blood	blood
45	chr8:90943800-90955400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:90944400-90956600	Strong transcription	HSMM	muscle
47	chr8:90944400-90977000	Strong transcription	Dnd41	blood
48	chr8:90944400-90982800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:90944600-90955400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr8:90944600-90982000	Strong transcription	Monocytes-CD14+_RO01746	blood

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