Variant report

Variant	rs7573966
Chromosome Location	chr2:37138046-37138047
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37135486..37138382-chr2:37141654..37143991,3	K562	blood:
2	chr2:37129384..37131644-chr2:37135815..37138378,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10193295	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10490657	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap]
rs11124554	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11124555	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11679564	0.81[ASN][1000 genomes]
rs11695609	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12476515	0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13418962	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17020071	0.95[JPT][hapmap]
rs17443495	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs17497343	0.81[ASN][1000 genomes]
rs2003585	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110944	0.81[EUR][1000 genomes]
rs2110994	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245109	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs2252032	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2372786	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2540998	0.84[CHB][hapmap]
rs2691106	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2691112	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2717493	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28527412	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770774	0.96[CEU][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3845778	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3845780	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4016033	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4016036	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4389320	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs45504994	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4670638	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs57747847	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62132550	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6752845	0.80[JPT][hapmap]
rs7561572	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7588378	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7592902	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7605601	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs888083	0.85[CEU][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7573966	EIF2AK2	cis	cerebellum	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
7	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon
9	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:37105000-37164600	Weak transcription	Lung	lung
12	chr2:37105200-37139200	Weak transcription	Aorta	Aorta
13	chr2:37105200-37141200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
16	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
17	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
18	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
19	chr2:37110800-37142800	Weak transcription	Gastric	stomach
20	chr2:37111200-37140600	Weak transcription	Fetal Brain Female	brain
21	chr2:37111600-37139200	Weak transcription	Ovary	ovary
22	chr2:37111800-37138200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:37112000-37138400	Weak transcription	Brain Germinal Matrix	brain
24	chr2:37112400-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:37114000-37145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:37117400-37139400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:37117400-37144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:37117600-37139800	Weak transcription	HSMM	muscle
29	chr2:37117600-37153600	Weak transcription	Hela-S3	cervix
30	chr2:37118000-37139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:37118000-37139600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:37118000-37139800	Weak transcription	HUVEC	blood vessel
33	chr2:37118000-37140000	Weak transcription	NHEK	skin
34	chr2:37118000-37140200	Weak transcription	HMEC	breast
35	chr2:37118200-37139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:37118200-37139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:37119600-37139000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:37119600-37139200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:37119600-37139200	Weak transcription	Osteobl	bone
40	chr2:37119600-37140000	Weak transcription	GM12878-XiMat	blood
41	chr2:37119800-37142200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:37120000-37139200	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:37120000-37139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:37120000-37153800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:37120200-37142600	Weak transcription	K562	blood
46	chr2:37120200-37149200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:37120400-37138400	Weak transcription	Left Ventricle	heart
48	chr2:37120600-37168000	Weak transcription	Thymus	Thymus
49	chr2:37120800-37166400	Weak transcription	Placenta	Placenta
50	chr2:37121000-37139400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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