Variant report

Variant	rs2190863
Chromosome Location	chr14:71712343-71712344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71711940..71713445-chr14:71722921..71725630,2	MCF-7	breast:
2	chr14:71711268..71712852-chr14:71785240..71787299,2	MCF-7	breast:
3	chr14:71710210..71712589-chr14:71742927..71745344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1000448	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1000449	0.99[ASN][1000 genomes]
rs11158903	0.91[ASN][1000 genomes]
rs11622499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11623541	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs11623545	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11627275	0.99[ASN][1000 genomes]
rs17109189	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4899392	0.97[ASN][1000 genomes]
rs4902924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56398258	0.95[ASN][1000 genomes]
rs7149082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.99[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	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2190863	SLC8A3	cis	cerebellum	SCAN
rs2190863	KIAA0247	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71704600-71713200	Weak transcription	Thymus	Thymus
2	chr14:71706800-71713000	Enhancers	Fetal Muscle Leg	muscle
3	chr14:71707600-71713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:71708000-71712400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:71708200-71713400	Weak transcription	NHEK	skin
6	chr14:71709000-71715200	Weak transcription	Fetal Brain Male	brain
7	chr14:71709400-71713200	Weak transcription	HUVEC	blood vessel
8	chr14:71709600-71717800	Weak transcription	Fetal Lung	lung
9	chr14:71711400-71712600	Weak transcription	Aorta	Aorta
10	chr14:71711600-71714000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:71711600-71714800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:71711600-71714800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:71711800-71714800	Weak transcription	Fetal Heart	heart
14	chr14:71712000-71714000	Enhancers	Primary B cells from peripheral blood	blood
15	chr14:71712000-71714000	Enhancers	Primary T cells from cord blood	blood
16	chr14:71712000-71714000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:71712000-71714000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr14:71712000-71714200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:71712000-71714200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:71712000-71714400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:71712200-71712400	Enhancers	Right Atrium	heart
22	chr14:71712200-71712800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:71712200-71713200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:71712200-71713200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:71712200-71713200	Enhancers	Spleen	Spleen
26	chr14:71712200-71713200	Weak transcription	Osteobl	bone
27	chr14:71712200-71713400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:71712200-71713400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:71712200-71713800	Weak transcription	NHDF-Ad	bronchial
30	chr14:71712200-71714000	Enhancers	Fetal Thymus	thymus
31	chr14:71712200-71714200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr14:71712200-71714200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr14:71712200-71714200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:71712200-71714200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr14:71712200-71714200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr14:71712200-71714400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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