Variant report

Variant	rs8005552
Chromosome Location	chr14:105927936-105927937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105927897-105928207	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105925538..105928214-chr14:105944900..105948509,4	K562	blood:

Variant related genes	Relation type
MTA1	TF binding region
ENSG00000182809	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10138891	0.86[AMR][1000 genomes]
rs10147154	1.00[CHD][hapmap]
rs11160845	0.86[AMR][1000 genomes]
rs11621365	1.00[CHD][hapmap]
rs11845995	1.00[CHD][hapmap]
rs12323571	0.86[AMR][1000 genomes]
rs12891645	0.87[AMR][1000 genomes]
rs3936032	0.89[YRI][hapmap];0.93[AMR][1000 genomes]
rs4074000	0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs4074001	1.00[CHD][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes]
rs4983407	1.00[CHD][hapmap];0.82[YRI][hapmap]
rs4983412	0.93[AMR][1000 genomes]
rs4983414	1.00[CHD][hapmap];0.86[YRI][hapmap]
rs4983418	1.00[CHD][hapmap]
rs4983422	0.86[AMR][1000 genomes]
rs4983423	0.86[AMR][1000 genomes]
rs4983614	1.00[CHD][hapmap]
rs4983624	0.86[YRI][hapmap]
rs6576099	1.00[CHD][hapmap]
rs6576105	0.93[AMR][1000 genomes]
rs6576106	0.96[YRI][hapmap];0.93[AMR][1000 genomes]
rs7140395	0.86[AMR][1000 genomes]
rs7143366	1.00[ASN][1000 genomes]
rs7149807	0.93[AMR][1000 genomes]
rs7153174	1.00[CHD][hapmap]
rs7158977	0.86[AMR][1000 genomes]
rs7161158	1.00[CHD][hapmap]
rs73362069	0.86[AMR][1000 genomes]
rs7492842	0.86[YRI][hapmap]
rs7492892	0.93[AMR][1000 genomes]
rs7492915	0.93[AMR][1000 genomes]
rs7493450	0.96[YRI][hapmap];0.93[AMR][1000 genomes]
rs7493964	0.83[YRI][hapmap]
rs8012089	0.86[AMR][1000 genomes]
rs9743822	1.00[CHD][hapmap];0.92[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:105897800-105940000	Weak transcription	K562	blood
4	chr14:105898400-105931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
6	chr14:105902800-105937800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:105903200-105935400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:105906800-105931000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
11	chr14:105912000-105937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:105915400-105931000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:105915400-105935000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:105915400-105936800	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr14:105915600-105937000	Strong transcription	Fetal Stomach	stomach
16	chr14:105916000-105931000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:105917600-105928800	Weak transcription	Fetal Kidney	kidney
18	chr14:105919000-105935200	Weak transcription	Stomach Mucosa	stomach
19	chr14:105919200-105929400	Weak transcription	Psoas Muscle	Psoas
20	chr14:105923000-105930800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:105923200-105929600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:105923400-105933800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:105923600-105933600	Weak transcription	GM12878-XiMat	blood
24	chr14:105923800-105929400	Weak transcription	NHEK	skin
25	chr14:105924600-105929400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:105924800-105929000	Weak transcription	Fetal Heart	heart
27	chr14:105925000-105930800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr14:105926000-105930400	Strong transcription	Fetal Muscle Leg	muscle
29	chr14:105926200-105928200	Strong transcription	HMEC	breast
30	chr14:105926200-105929200	Strong transcription	Right Ventricle	heart
31	chr14:105926200-105929200	Strong transcription	Spleen	Spleen
32	chr14:105926200-105931400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:105926200-105935800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:105926200-105937000	Strong transcription	Brain Germinal Matrix	brain
35	chr14:105926200-105937400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:105926400-105931000	Strong transcription	A549	lung
37	chr14:105926400-105931400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:105926400-105931400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:105926400-105931600	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:105926400-105932400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:105926400-105933600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:105926400-105933600	Strong transcription	Gastric	stomach
43	chr14:105926400-105934200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr14:105926400-105934800	Strong transcription	Pancreas	Pancrea
45	chr14:105926400-105936600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:105926400-105936600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:105926400-105937000	Strong transcription	Fetal Intestine Small	intestine
48	chr14:105926400-105937800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:105926400-105937800	Strong transcription	Fetal Brain Female	brain
50	chr14:105926400-105937800	Strong transcription	Thymus	Thymus

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