Variant report

Variant	rs9291487
Chromosome Location	chr4:26967484-26967485
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	chr4:26963208..26966058-chr4:26966686..26968937,2	K562	blood:
2	chr4:26962657..26964232-chr4:26966255..26969155,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10010180	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10019691	0.91[AFR][1000 genomes]
rs1012550	0.96[CEU][hapmap]
rs10433805	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10939147	0.87[CEU][hapmap]
rs12152700	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16878653	0.95[CEU][hapmap]
rs16878671	0.89[AFR][1000 genomes]
rs28570016	0.90[ASN][1000 genomes]
rs28668622	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2871256	0.96[CEU][hapmap]
rs35499018	0.86[ASN][1000 genomes]
rs3762900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4692136	0.96[YRI][hapmap]
rs6830950	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs6833149	0.88[AFR][1000 genomes]
rs6838936	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6855865	0.95[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs6856381	0.88[AFR][1000 genomes]
rs7669818	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7679403	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7681802	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7693687	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7695335	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs7700108	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998971	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9291487	STIM2	Cis_1M	lymphoblastoid	RTeQTL
rs9291487	STIM2	cis	uninvolved skin	skin_eQTL
rs9291487	STIM2	cis	normal skin	skin_eQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26923200-26977200	Weak transcription	Thymus	Thymus
2	chr4:26938600-26969000	Weak transcription	Gastric	stomach
3	chr4:26939200-26969000	Weak transcription	Pancreas	Pancrea
4	chr4:26950000-26980200	Weak transcription	Spleen	Spleen
5	chr4:26950200-26979400	Weak transcription	Ovary	ovary
6	chr4:26959200-26977600	Weak transcription	Fetal Thymus	thymus
7	chr4:26961000-26977200	Weak transcription	Fetal Intestine Small	intestine
8	chr4:26961600-26967600	Weak transcription	Dnd41	blood
9	chr4:26961600-26969600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:26961600-26973400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:26961600-26977200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:26961800-26975800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:26961800-26980200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:26961800-26994000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:26962000-26975200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:26963600-26975000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:26963600-26994200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:26964200-26977200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:26964400-26975000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:26965600-26967600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:26965600-26968000	Enhancers	Brain Hippocampus Middle	brain
22	chr4:26966000-26968000	Strong transcription	Primary T cells from cord blood	blood
23	chr4:26966000-26970400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:26966000-26971000	Weak transcription	Psoas Muscle	Psoas
25	chr4:26966400-26967800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:26966600-26967600	Weak transcription	NHDF-Ad	bronchial
27	chr4:26966600-26967600	Weak transcription	Osteobl	bone
28	chr4:26966600-26986400	Weak transcription	HSMM	muscle
29	chr4:26966600-26989000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:26966600-26994600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:26966800-26969000	Weak transcription	Primary B cells from cord blood	blood
32	chr4:26966800-26977200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:26966800-26979200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:26966800-26979400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:26966800-26985200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:26966800-26986400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:26967000-26967600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr4:26967000-26967800	Weak transcription	Brain Angular Gyrus	brain
39	chr4:26967000-26971000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr4:26967000-26977200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:26967000-26980000	Weak transcription	GM12878-XiMat	blood
42	chr4:26967200-26967800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:26967200-26967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:26967200-26967800	Weak transcription	Brain Anterior Caudate	brain
45	chr4:26967200-26968000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:26967200-26977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:26967400-26967600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:26967400-26968000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:26967400-26968000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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