Variant report

Variant	rs6830323
Chromosome Location	chr4:26877271-26877272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26876702..26878634-chr4:26883669..26885455,2	K562	blood:
2	chr4:26876720..26878835-chr4:26986672..26989304,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10470822	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12648414	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12648597	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28445387	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3924177	0.82[EUR][1000 genomes]
rs4133239	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4259045	0.82[EUR][1000 genomes]
rs4376128	0.83[EUR][1000 genomes]
rs4518229	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4519791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4575981	0.83[EUR][1000 genomes]
rs4692128	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4692129	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6448478	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs6448482	0.83[EUR][1000 genomes]
rs6448483	0.83[EUR][1000 genomes]
rs6448486	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6822297	0.84[JPT][hapmap]
rs6830424	0.81[EUR][1000 genomes]
rs7672936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7678576	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7688788	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7697626	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[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	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6830323	STIM2	cis	Whole Blood	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26864400-26886600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr4:26864600-26885600	Weak transcription	Thymus	Thymus
3	chr4:26866000-26880400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:26866000-26881800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:26867200-26879000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:26867200-26880000	Weak transcription	Fetal Intestine Large	intestine
7	chr4:26867200-26884200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:26869800-26886000	Weak transcription	Fetal Stomach	stomach
9	chr4:26870000-26879400	Weak transcription	NHLF	lung
10	chr4:26870000-26879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:26870600-26881800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:26870800-26879200	Weak transcription	Small Intestine	intestine
13	chr4:26870800-26880800	Weak transcription	Stomach Mucosa	stomach
14	chr4:26872800-26877400	Weak transcription	HSMMtube	muscle
15	chr4:26873000-26886200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:26873400-26877800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:26873400-26883600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:26873600-26879200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:26873600-26880000	Weak transcription	NHEK	skin
20	chr4:26873800-26880000	Weak transcription	HMEC	breast
21	chr4:26873800-26881200	Weak transcription	Fetal Heart	heart
22	chr4:26873800-26881400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:26875600-26879000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:26875600-26879200	Weak transcription	Primary B cells from cord blood	blood
25	chr4:26875600-26881400	Weak transcription	Right Atrium	heart
26	chr4:26875600-26904600	Weak transcription	Brain Anterior Caudate	brain
27	chr4:26875800-26878000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:26875800-26879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:26875800-26879200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:26875800-26880400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:26875800-26880400	Weak transcription	Psoas Muscle	Psoas
32	chr4:26875800-26888200	Weak transcription	Adipose Nuclei	Adipose
33	chr4:26876000-26877400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:26876000-26877400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:26876000-26877800	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:26876000-26879200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:26876000-26879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:26876000-26879600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:26876000-26880400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:26876000-26881400	Weak transcription	Pancreas	Pancrea
41	chr4:26876200-26877600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:26876200-26878600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:26876200-26879000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:26876200-26879200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr4:26876200-26879200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:26876400-26877400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:26876400-26885600	Weak transcription	Fetal Lung	lung
48	chr4:26876600-26879000	Weak transcription	Primary T cells from cord blood	blood
49	chr4:26876600-26879800	Weak transcription	Brain Substantia Nigra	brain
50	chr4:26876800-26877600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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