Variant report

Variant	rs2402974
Chromosome Location	chr7:129329261-129329262
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	chr7:129321375..129324178-chr7:129328402..129330581,2	K562	blood:
2	chr7:129328277..129329928-chr7:129333290..129335643,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11532743	0.81[EUR][1000 genomes]
rs12535925	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12537627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12537713	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12538512	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12540281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13233824	0.86[CHB][hapmap]
rs13239849	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13241028	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13246347	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1806626	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34783564	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35240725	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35343997	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35629686	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731610	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4731611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4731613	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4731618	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59675752	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62489293	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62489334	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71583713	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71583720	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2402974	IRF5	cis	cerebellum	SCAN
rs2402974	CALU	cis	cerebellum	SCAN
rs2402974	UBE2H	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129283800-129331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:129297800-129349800	Weak transcription	Small Intestine	intestine
3	chr7:129301000-129330200	Weak transcription	Gastric	stomach
4	chr7:129302000-129331800	Weak transcription	Esophagus	oesophagus
5	chr7:129305000-129338200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:129307200-129352000	Weak transcription	NHLF	lung
7	chr7:129311400-129352200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:129313000-129330200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:129314400-129330200	Weak transcription	Right Ventricle	heart
10	chr7:129314600-129329800	Weak transcription	Spleen	Spleen
11	chr7:129314800-129330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:129314800-129351200	Weak transcription	Pancreas	Pancrea
13	chr7:129315000-129331400	Weak transcription	Colonic Mucosa	Colon
14	chr7:129315200-129330200	Weak transcription	Brain Angular Gyrus	brain
15	chr7:129315200-129330200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:129315200-129341800	Weak transcription	NH-A	brain
17	chr7:129315400-129331600	Weak transcription	HSMM	muscle
18	chr7:129315400-129357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:129315600-129330200	Weak transcription	Osteobl	bone
20	chr7:129315600-129331600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:129315600-129331600	Weak transcription	HSMMtube	muscle
22	chr7:129315600-129373600	Weak transcription	Psoas Muscle	Psoas
23	chr7:129316000-129330000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:129316000-129330200	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:129316000-129331400	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:129316000-129331600	Weak transcription	GM12878-XiMat	blood
27	chr7:129316200-129329400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:129316200-129330000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:129316200-129330200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:129316200-129330200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:129316400-129329400	Weak transcription	Fetal Intestine Large	intestine
32	chr7:129316400-129330000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:129316400-129330200	Weak transcription	Fetal Brain Female	brain
34	chr7:129316400-129331400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:129316400-129350200	Weak transcription	Brain Germinal Matrix	brain
36	chr7:129316400-129357200	Weak transcription	Fetal Brain Male	brain
37	chr7:129316600-129329400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:129316600-129330200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:129317200-129329800	Weak transcription	Fetal Intestine Small	intestine
40	chr7:129317200-129329800	Weak transcription	Ovary	ovary
41	chr7:129317600-129329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:129317600-129331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:129317600-129338400	Weak transcription	K562	blood
44	chr7:129317800-129329400	Weak transcription	Left Ventricle	heart
45	chr7:129317800-129329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:129317800-129329400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:129317800-129329600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:129317800-129330200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:129317800-129330200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:129317800-129330200	Weak transcription	Lung	lung

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