Variant report

Variant	rs6847438
Chromosome Location	chr4:26914644-26914645
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	chr4:26914621..26917099-chr4:26917825..26919349,2	K562	blood:
2	chr4:26903933..26906548-chr4:26914437..26916470,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10006403	0.81[CEU][hapmap]
rs10023256	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs10470822	0.93[CEU][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10939142	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10939144	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs12331333	0.85[CEU][hapmap]
rs12644232	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13129075	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13434709	0.86[CEU][hapmap]
rs17555311	0.96[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28454570	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28704572	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3924177	0.80[ASN][1000 genomes]
rs4259045	0.82[ASN][1000 genomes]
rs4376128	0.80[ASN][1000 genomes]
rs4519791	0.92[CEU][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs4575981	0.82[ASN][1000 genomes]
rs4692131	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4692132	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs4692137	0.96[CEU][hapmap]
rs6448478	1.00[JPT][hapmap]
rs6448482	0.82[ASN][1000 genomes]
rs6448483	0.82[ASN][1000 genomes]
rs6448485	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6448487	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6822297	0.92[CEU][hapmap]
rs6831605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs724624	0.84[CEU][hapmap]
rs725981	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7658174	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7666651	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]
rs7672936	0.92[CEU][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs7692953	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9654110	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs9998368	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6847438	STIM2	cis	Whole Blood	GTEx
rs6847438	STIM2	cis	uninvolved skin	skin_eQTL

Chromatin state (count:86 , 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	chr4:26907000-26917400	Weak transcription	Gastric	stomach
4	chr4:26907200-26937800	Weak transcription	Stomach Mucosa	stomach
5	chr4:26908400-26914800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr4:26909000-26915800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:26909600-26916600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:26909600-26921400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:26909600-26923000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:26909800-26921400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:26910000-26915800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:26910000-26916200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:26910000-26926600	Weak transcription	Fetal Stomach	stomach
14	chr4:26910200-26921000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr4:26910200-26921000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:26910200-26921200	Weak transcription	Primary B cells from cord blood	blood
17	chr4:26910200-26925800	Weak transcription	NHEK	skin
18	chr4:26910400-26921400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:26910800-26921800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:26911000-26915000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr4:26911000-26915400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:26911000-26917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:26911600-26965800	Weak transcription	HMEC	breast
24	chr4:26911800-26915000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr4:26912000-26915800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:26912400-26914800	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:26912400-26918800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:26912600-26921600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:26912800-26919600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr4:26913000-26914800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:26913000-26915000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:26913000-26920200	Enhancers	Primary T cells from cord blood	blood
33	chr4:26913200-26914800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:26913200-26914800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:26913200-26914800	Enhancers	GM12878-XiMat	blood
36	chr4:26913200-26915000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr4:26913400-26914800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:26913400-26914800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:26913400-26914800	Enhancers	Brain Hippocampus Middle	brain
40	chr4:26913800-26914800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:26913800-26914800	Enhancers	Left Ventricle	heart
42	chr4:26913800-26914800	Enhancers	Ovary	ovary
43	chr4:26913800-26915000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr4:26914000-26914800	Enhancers	Dnd41	blood
45	chr4:26914000-26915200	Enhancers	Duodenum Mucosa	Duodenum
46	chr4:26914000-26923000	Weak transcription	Aorta	Aorta
47	chr4:26914200-26914800	Active TSS	Brain Anterior Caudate	brain
48	chr4:26914200-26914800	Enhancers	NHDF-Ad	bronchial
49	chr4:26914200-26924200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:26914400-26914800	Enhancers	H1 Cell Line	embryonic stem cell

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