Variant report

Variant	rs61047003
Chromosome Location	chr4:26938761-26938762
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26930423..26932416-chr4:26938011..26939754,2	K562	blood:
2	chr4:26929049..26932416-chr4:26937175..26939754,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10029307	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11729927	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11730235	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11734308	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11737218	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11943948	0.85[ASN][1000 genomes]
rs12641261	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12644073	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12646473	0.87[ASN][1000 genomes]
rs12650172	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13138942	0.85[ASN][1000 genomes]
rs13139464	0.81[ASN][1000 genomes]
rs28497454	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28520489	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34996346	0.87[ASN][1000 genomes]
rs3792685	0.93[ASN][1000 genomes]
rs4274829	0.85[ASN][1000 genomes]
rs4505809	0.85[ASN][1000 genomes]
rs4519790	0.85[ASN][1000 genomes]
rs4532223	0.85[ASN][1000 genomes]
rs4557250	0.85[ASN][1000 genomes]
rs4557251	0.84[ASN][1000 genomes]
rs57663175	0.96[ASN][1000 genomes]
rs57686546	0.94[ASN][1000 genomes]
rs58968032	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60890366	0.97[ASN][1000 genomes]
rs62302532	0.96[ASN][1000 genomes]
rs62302533	0.96[ASN][1000 genomes]
rs62302535	0.94[ASN][1000 genomes]
rs6448479	0.86[ASN][1000 genomes]
rs6448484	0.85[ASN][1000 genomes]
rs6448488	0.96[ASN][1000 genomes]
rs6815719	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6833053	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6833895	0.86[ASN][1000 genomes]
rs6835631	0.97[ASN][1000 genomes]
rs6844153	0.97[ASN][1000 genomes]
rs6853032	0.85[ASN][1000 genomes]
rs73116683	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73811400	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73813220	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7655686	0.92[ASN][1000 genomes]
rs9790789	0.85[ASN][1000 genomes]

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	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
5	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61047003	STIM2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26911600-26965800	Weak transcription	HMEC	breast
2	chr4:26914800-26942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:26918400-26939800	Weak transcription	Fetal Heart	heart
4	chr4:26922800-26941400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:26923000-26940200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:26923000-26942400	Weak transcription	Fetal Brain Male	brain
7	chr4:26923000-26942400	Weak transcription	Left Ventricle	heart
8	chr4:26923200-26939400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:26923200-26941400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:26923200-26942400	Weak transcription	Brain Angular Gyrus	brain
11	chr4:26923200-26965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:26923200-26977200	Weak transcription	Thymus	Thymus
13	chr4:26923400-26954400	Weak transcription	HSMM	muscle
14	chr4:26923400-26960600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:26923800-26943800	Weak transcription	Fetal Lung	lung
16	chr4:26924400-26940200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:26924400-26940600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:26924400-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:26924600-26940000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:26933000-26942400	Weak transcription	Right Atrium	heart
21	chr4:26934800-26940800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:26936000-26940400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:26936000-26940400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:26936000-26944600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr4:26936200-26938800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:26936200-26939200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:26936400-26939200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:26936400-26939600	Enhancers	Primary B cells from cord blood	blood
29	chr4:26936400-26939600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr4:26936800-26939600	Enhancers	Primary B cells from peripheral blood	blood
31	chr4:26937400-26939400	Weak transcription	Fetal Intestine Small	intestine
32	chr4:26937400-26941400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:26937800-26939600	Enhancers	Stomach Mucosa	stomach
34	chr4:26937800-26942200	Enhancers	K562	blood
35	chr4:26938000-26938800	Enhancers	HepG2	liver
36	chr4:26938000-26939000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:26938000-26939200	Enhancers	Duodenum Mucosa	Duodenum
38	chr4:26938000-26939600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:26938000-26945000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:26938200-26938800	Enhancers	NHLF	lung
41	chr4:26938200-26939200	Enhancers	GM12878-XiMat	blood
42	chr4:26938400-26938800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr4:26938400-26938800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:26938400-26938800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:26938400-26938800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:26938400-26938800	Enhancers	Lung	lung
47	chr4:26938400-26938800	Enhancers	Psoas Muscle	Psoas
48	chr4:26938400-26939000	Enhancers	Spleen	Spleen
49	chr4:26938400-26939200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr4:26938400-26939200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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