Variant report

Variant	rs193444
Chromosome Location	chr14:71817538-71817539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71808614..71810391-chr14:71815911..71818051,2	MCF-7	breast:
2	chr14:71815345..71818974-chr14:71820775..71823679,4	K562	blood:
3	chr14:71814153..71816192-chr14:71816811..71819401,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10150280	1.00[ASW][hapmap];0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs6574012	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8008110	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8016217	1.00[ASW][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	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
2	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs193444	SLC8A3	cis	cerebellum	SCAN
rs193444	SMOC1	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71789800-71820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:71792200-71819400	Weak transcription	NHEK	skin
3	chr14:71792800-71820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:71792800-71820000	Weak transcription	Pancreas	Pancrea
5	chr14:71795000-71821800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:71795200-71819600	Weak transcription	HSMM	muscle
7	chr14:71795200-71820000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:71795200-71821600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:71795800-71821400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:71797200-71821800	Weak transcription	HSMMtube	muscle
11	chr14:71797600-71821200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:71798800-71818000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:71800400-71819200	Weak transcription	Hela-S3	cervix
14	chr14:71800600-71822200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:71801400-71821000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:71805200-71818800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:71805200-71822200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:71805400-71828600	Weak transcription	Dnd41	blood
19	chr14:71806000-71819400	Weak transcription	Primary T cells from cord blood	blood
20	chr14:71806600-71838400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:71806800-71817600	Weak transcription	Osteobl	bone
22	chr14:71807000-71821600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:71807600-71822000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:71808000-71818600	Weak transcription	NH-A	brain
25	chr14:71808200-71822200	Weak transcription	Fetal Intestine Small	intestine
26	chr14:71808400-71822000	Weak transcription	Small Intestine	intestine
27	chr14:71808400-71829800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:71808600-71821400	Weak transcription	Primary B cells from cord blood	blood
29	chr14:71808600-71821600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:71808800-71838600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:71810200-71820000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr14:71810600-71822400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr14:71810800-71822200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:71812000-71821600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:71812000-71821800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:71812200-71820000	Weak transcription	Spleen	Spleen
37	chr14:71812200-71821200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:71812200-71821600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:71812200-71821600	Weak transcription	Ovary	ovary
40	chr14:71812200-71822600	Weak transcription	Esophagus	oesophagus
41	chr14:71812200-71838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:71813200-71822000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:71813400-71829000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr14:71813600-71821600	Weak transcription	Liver	Liver
45	chr14:71813600-71822800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:71814200-71821400	Weak transcription	NHLF	lung
47	chr14:71816200-71821600	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:71816200-71827800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:71816400-71820000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:71816600-71820800	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links