Variant report

Variant	rs7666651
Chromosome Location	chr4:26906436-26906437
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	chr4:26903933..26906548-chr4:26914437..26916470,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10002654	0.82[EUR][1000 genomes]
rs10470822	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10939142	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10939144	0.89[EUR][1000 genomes]
rs12644232	0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13129075	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17555311	0.84[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28454570	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28704572	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3924177	0.89[ASN][1000 genomes]
rs4259045	0.91[ASN][1000 genomes]
rs4376128	0.89[ASN][1000 genomes]
rs4519791	0.85[YRI][hapmap];0.83[EUR][1000 genomes]
rs4575981	0.91[ASN][1000 genomes]
rs4692131	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6448478	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs6448480	0.83[ASN][1000 genomes]
rs6448481	0.84[ASN][1000 genomes]
rs6448482	0.91[ASN][1000 genomes]
rs6448483	0.91[ASN][1000 genomes]
rs6448485	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6448487	0.84[CHB][hapmap];0.93[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6830424	0.86[ASN][1000 genomes]
rs6831605	0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6847438	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs725981	0.84[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7658174	0.84[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7672936	0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs7692953	0.92[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9998368	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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
rs7666651	STIM2	cis	Whole Blood	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26880600-26921600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:26886600-26921600	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:26898400-26907400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:26898400-26914400	Weak transcription	HSMM	muscle
5	chr4:26899400-26908000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr4:26900400-26913200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:26900800-26908000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:26901200-26907600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:26901600-26906800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:26901800-26909000	Weak transcription	GM12878-XiMat	blood
11	chr4:26902000-26906800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:26902600-26909000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:26902800-26906600	Weak transcription	Ovary	ovary
14	chr4:26902800-26907000	Weak transcription	Lung	lung
15	chr4:26902800-26908800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:26902800-26909400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:26902800-26909400	Weak transcription	Brain Substantia Nigra	brain
18	chr4:26902800-26909800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:26902800-26912400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:26902800-26914400	Weak transcription	Right Atrium	heart
21	chr4:26903000-26913000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:26903600-26909000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:26903800-26906800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:26904400-26910200	Weak transcription	Pancreas	Pancrea
25	chr4:26904400-26913800	Weak transcription	Left Ventricle	heart
26	chr4:26904800-26909000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:26905000-26910400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:26905200-26909200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:26905600-26907000	Enhancers	Brain Anterior Caudate	brain
30	chr4:26905600-26907000	Enhancers	Brain Hippocampus Middle	brain
31	chr4:26905800-26906800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:26906000-26906600	Enhancers	Primary B cells from cord blood	blood
33	chr4:26906000-26906600	Enhancers	Primary T cells from cord blood	blood
34	chr4:26906000-26906600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:26906000-26906600	Enhancers	Small Intestine	intestine
36	chr4:26906000-26906600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr4:26906000-26907000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:26906000-26907000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:26906000-26907000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr4:26906000-26907200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:26906000-26907200	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:26906000-26907200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr4:26906000-26907200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:26906000-26907200	Enhancers	Stomach Mucosa	stomach
45	chr4:26906000-26907400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr4:26906000-26907400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr4:26906000-26907400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr4:26906000-26907600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:26906000-26910600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr4:26906200-26906600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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