Variant report

Variant	rs7143960
Chromosome Location	chr14:70172278-70172279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70172067..70174667-chr14:70175869..70177439,2	K562	blood:
2	chr14:70172067..70174968-chr14:70175832..70177369,2	K562	blood:
3	chr14:70167441..70169384-chr14:70170889..70173121,2	K562	blood:
4	chr14:70158665..70161434-chr14:70169533..70173159,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10149246	0.85[CHB][hapmap];0.91[CHD][hapmap];0.81[MKK][hapmap]
rs1275742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1275745	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs1275746	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs1275817	0.92[CHB][hapmap];0.91[ASN][1000 genomes]
rs1295826	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs17107161	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs1743379	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs1999722	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs2210803	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs2332094	0.83[CHB][hapmap]
rs34686932	0.87[ASN][1000 genomes]
rs4899304	0.93[JPT][hapmap]
rs4902745	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs60716885	0.90[ASN][1000 genomes]
rs61980729	0.87[ASN][1000 genomes]
rs61980730	0.90[ASN][1000 genomes]
rs6573900	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs7157093	0.93[ASN][1000 genomes]
rs8006991	0.83[CHB][hapmap]
rs945308	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs945309	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.91[ASN][1000 genomes]
rs945310	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.91[ASN][1000 genomes]
rs945312	0.93[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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7143960	SLC8A3	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70160000-70177600	Weak transcription	Fetal Brain Female	brain
2	chr14:70161200-70176200	Weak transcription	NHDF-Ad	bronchial
3	chr14:70161600-70179200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:70162800-70178000	Weak transcription	HSMM	muscle
5	chr14:70163000-70175600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:70163000-70177800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:70163200-70175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:70163400-70179400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
10	chr14:70163600-70176000	Weak transcription	NHEK	skin
11	chr14:70164000-70178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:70164600-70174000	Weak transcription	HMEC	breast
13	chr14:70166600-70175400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:70166600-70179000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:70168000-70177400	Strong transcription	Fetal Intestine Small	intestine
16	chr14:70168200-70172800	Genic enhancers	Fetal Thymus	thymus
17	chr14:70168200-70179200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:70168400-70175000	Weak transcription	Stomach Mucosa	stomach
19	chr14:70169000-70175400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:70169000-70175400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:70169000-70175400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:70169000-70177600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:70169200-70176200	Weak transcription	Fetal Brain Male	brain
24	chr14:70169400-70175400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:70169600-70175000	Weak transcription	Colonic Mucosa	Colon
26	chr14:70169600-70175200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:70170000-70172600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr14:70170000-70172600	Genic enhancers	Lung	lung
29	chr14:70170000-70172600	Strong transcription	NHLF	lung
30	chr14:70170000-70178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:70170000-70178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:70170000-70178200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:70170000-70178400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:70170200-70172600	Genic enhancers	Adipose Nuclei	Adipose
35	chr14:70170200-70172800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:70170200-70173600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:70170200-70173800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr14:70170200-70175000	Weak transcription	Psoas Muscle	Psoas
39	chr14:70170200-70175400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:70170200-70177600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:70170200-70177600	Strong transcription	Fetal Intestine Large	intestine
42	chr14:70170200-70177600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:70170200-70178400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:70170200-70178400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:70170400-70172600	Genic enhancers	Spleen	Spleen
46	chr14:70170400-70173200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:70170400-70173600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr14:70170400-70174000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:70170400-70175200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:70170400-70176000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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