Variant report

Variant	rs7155008
Chromosome Location	chr14:72073452-72073453
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	chr14:72044562..72046264-chr14:72073210..72075565,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10136590	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10143346	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11627930	0.80[AMR][1000 genomes]
rs12878009	0.96[CEU][hapmap]
rs12897119	0.96[CEU][hapmap]
rs1859551	0.86[ASW][hapmap];0.96[CEU][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.90[YRI][hapmap]
rs2041330	0.84[CEU][hapmap]
rs35958404	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3784063	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4464023	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap]
rs4902939	0.80[AMR][1000 genomes]
rs6574014	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7141155	0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap]
rs7145435	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs7150965	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs8007521	0.96[CEU][hapmap];0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7155008	SLC8A3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72053400-72098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:72055200-72087800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:72059000-72098600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:72059400-72088000	Weak transcription	NHLF	lung
5	chr14:72059800-72085600	Weak transcription	NH-A	brain
6	chr14:72059800-72087600	Weak transcription	Hela-S3	cervix
7	chr14:72062800-72074000	Weak transcription	Brain Substantia Nigra	brain
8	chr14:72063200-72087200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:72064800-72084800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:72064800-72085000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:72065000-72087200	Weak transcription	NHEK	skin
12	chr14:72065200-72085400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr14:72065400-72085600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:72065800-72085600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:72065800-72089600	Weak transcription	HSMMtube	muscle
16	chr14:72067400-72084600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:72067400-72084600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:72069400-72083800	Weak transcription	Primary B cells from cord blood	blood
19	chr14:72069800-72074400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:72071200-72074800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:72071400-72074200	Weak transcription	Osteobl	bone
22	chr14:72071400-72085400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:72072200-72074400	Enhancers	Primary T cells from cord blood	blood
24	chr14:72072200-72075200	Enhancers	Brain Anterior Caudate	brain
25	chr14:72072400-72073600	Enhancers	Fetal Heart	heart
26	chr14:72072400-72074000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:72072400-72074400	Enhancers	Thymus	Thymus
28	chr14:72072400-72075000	Enhancers	Brain Angular Gyrus	brain
29	chr14:72072400-72075000	Enhancers	Fetal Thymus	thymus
30	chr14:72072600-72073600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr14:72072600-72073600	Flanking Active TSS	Dnd41	blood
32	chr14:72072600-72087000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:72072600-72090600	Weak transcription	Fetal Intestine Large	intestine
34	chr14:72072600-72103600	Weak transcription	Left Ventricle	heart
35	chr14:72072800-72074600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr14:72072800-72087200	Weak transcription	Aorta	Aorta
37	chr14:72073200-72073800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:72073200-72073800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:72073200-72073800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:72073200-72073800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:72073200-72074400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:72073200-72074400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:72073200-72074600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:72073200-72075000	Flanking Active TSS	GM12878-XiMat	blood
45	chr14:72073200-72075200	Enhancers	Brain Hippocampus Middle	brain
46	chr14:72073200-72085400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:72073200-72085600	Weak transcription	HSMM	muscle
48	chr14:72073200-72087200	Weak transcription	Fetal Intestine Small	intestine
49	chr14:72073200-72087400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:72073200-72090600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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