Variant report

Variant	rs9289513
Chromosome Location	chr3:136451746-136451747
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1052620	0.93[CEU][hapmap];0.96[GIH][hapmap];0.91[MEX][hapmap]
rs12695649	0.93[CEU][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap]
rs13062352	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13071220	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs13100192	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13314357	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13326151	0.93[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap]
rs13433683	0.95[EUR][1000 genomes]
rs13433688	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17365792	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1872239	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2176269	0.90[EUR][1000 genomes]
rs28390205	0.80[EUR][1000 genomes]
rs28750366	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap]
rs34564818	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34804893	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs35100027	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35198484	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35210994	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35422852	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35428413	0.81[EUR][1000 genomes]
rs35880395	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36109616	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36177165	0.95[EUR][1000 genomes]
rs4038586	0.84[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs66509730	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6806123	0.93[CEU][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap]
rs71336080	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73230043	0.82[AFR][1000 genomes]
rs9809988	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs9813376	0.95[EUR][1000 genomes]
rs9813691	0.93[CEU][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap]
rs9819856	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9820717	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs9828976	0.83[EUR][1000 genomes]
rs9838884	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9845862	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9847427	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs9850364	0.83[EUR][1000 genomes]
rs9857966	0.93[CEU][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap]
rs9858560	0.97[EUR][1000 genomes]
rs9860879	0.83[EUR][1000 genomes]
rs9865995	0.97[EUR][1000 genomes]
rs9867325	0.93[CEU][hapmap]
rs9871184	0.97[EUR][1000 genomes]
rs9873536	0.95[EUR][1000 genomes]
rs9875770	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9883189	0.93[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][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	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9289513	ERICH1	trans	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136426600-136453400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:136427800-136452400	Weak transcription	HUVEC	blood vessel
3	chr3:136431000-136454600	Weak transcription	Hela-S3	cervix
4	chr3:136432400-136468200	Weak transcription	Aorta	Aorta
5	chr3:136432600-136454000	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:136433200-136462600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:136438000-136458000	Weak transcription	Esophagus	oesophagus
8	chr3:136438800-136461200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:136439200-136454400	Weak transcription	Fetal Stomach	stomach
10	chr3:136443800-136452600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:136444000-136455000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:136444200-136455000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:136444400-136451800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:136445200-136453400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:136445400-136460000	Weak transcription	Gastric	stomach
16	chr3:136446400-136453600	Weak transcription	Fetal Heart	heart
17	chr3:136446400-136460000	Weak transcription	K562	blood
18	chr3:136446600-136451800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr3:136448000-136453000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:136448000-136453200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:136448000-136453800	Weak transcription	Ovary	ovary
22	chr3:136448000-136455600	Weak transcription	Fetal Lung	lung
23	chr3:136448000-136460800	Weak transcription	Brain Germinal Matrix	brain
24	chr3:136448200-136453200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:136448200-136453200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:136448200-136453400	Weak transcription	Adipose Nuclei	Adipose
27	chr3:136448200-136453600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:136448200-136453800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:136448200-136454000	Enhancers	Brain Substantia Nigra	brain
30	chr3:136448200-136455000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr3:136448200-136459800	Weak transcription	Osteobl	bone
32	chr3:136448200-136460000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:136448200-136467600	Weak transcription	HSMM	muscle
34	chr3:136448200-136467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:136448200-136467800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:136448200-136467800	Weak transcription	HSMMtube	muscle
37	chr3:136448400-136453200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:136448400-136455400	Weak transcription	NH-A	brain
39	chr3:136448400-136459800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:136448600-136460200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:136448600-136462800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:136448600-136463800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:136448600-136467600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:136449000-136453800	Weak transcription	Right Atrium	heart
45	chr3:136449000-136454000	Weak transcription	Lung	lung
46	chr3:136449000-136470000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:136449200-136453400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:136449200-136454600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr3:136449600-136451800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:136449800-136462400	Weak transcription	Dnd41	blood

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