Variant report

Variant	rs7697626
Chromosome Location	chr4:26907364-26907365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10470822	0.84[ASN][1000 genomes]
rs12648414	0.84[EUR][1000 genomes]
rs12648597	0.90[EUR][1000 genomes]
rs28445387	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4133239	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4519791	0.93[ASN][1000 genomes]
rs4692128	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4692129	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60006504	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6448486	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6830323	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7672936	0.90[ASN][1000 genomes]
rs7678576	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7688788	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[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
rs7697626	STIM2	cis	Whole Blood	GTEx

Chromatin state (count:62 , 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	chr4:26901800-26909000	Weak transcription	GM12878-XiMat	blood
10	chr4:26902600-26909000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:26902800-26908800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:26902800-26909400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:26902800-26909400	Weak transcription	Brain Substantia Nigra	brain
14	chr4:26902800-26909800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:26902800-26912400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:26902800-26914400	Weak transcription	Right Atrium	heart
17	chr4:26903000-26913000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:26903600-26909000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:26904400-26910200	Weak transcription	Pancreas	Pancrea
20	chr4:26904400-26913800	Weak transcription	Left Ventricle	heart
21	chr4:26904800-26909000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:26905000-26910400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:26905200-26909200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:26906000-26907400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:26906000-26907400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:26906000-26907400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr4:26906000-26907600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:26906000-26910600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr4:26906400-26909200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:26906800-26907400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:26906800-26909000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:26906800-26909000	Weak transcription	Adipose Nuclei	Adipose
33	chr4:26906800-26909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:26906800-26909400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:26906800-26912000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:26907000-26909000	Weak transcription	Brain Angular Gyrus	brain
37	chr4:26907000-26909000	Weak transcription	Brain Anterior Caudate	brain
38	chr4:26907000-26909000	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:26907000-26909000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr4:26907000-26909400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:26907000-26909400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:26907000-26909400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:26907000-26909800	Weak transcription	Ovary	ovary
44	chr4:26907000-26913000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:26907000-26913200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:26907000-26914400	Weak transcription	Psoas Muscle	Psoas
47	chr4:26907000-26917400	Weak transcription	Gastric	stomach
48	chr4:26907200-26908600	Weak transcription	Primary B cells from cord blood	blood
49	chr4:26907200-26908600	Weak transcription	Primary T cells from cord blood	blood
50	chr4:26907200-26909000	Weak transcription	Primary monocytes fromperipheralblood	blood

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