Variant report

Variant	rs1497386
Chromosome Location	chr4:143334733-143334734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143326578..143329374-chr4:143334403..143336752,2	MCF-7	breast:
2	chr4:143334587..143337797-chr4:143392954..143395413,3	MCF-7	breast:
3	chr4:143333597..143335971-chr4:143337267..143338808,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1155075	0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs11938760	0.83[JPT][hapmap]
rs13133199	0.85[AMR][1000 genomes]
rs1391095	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs1391097	0.95[CEU][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1497388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17016027	0.92[JPT][hapmap]
rs2029990	0.84[JPT][hapmap]
rs2130253	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2646095	0.85[CEU][hapmap]
rs2840094	0.87[AFR][1000 genomes]
rs3756125	0.92[YRI][hapmap];0.94[AFR][1000 genomes]
rs3775707	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4626289	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6838117	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71608480	0.82[EUR][1000 genomes]

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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143327600-143335600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:143327800-143335600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:143328600-143335200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:143328600-143336400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:143329000-143335000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:143329000-143335800	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:143329000-143336000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr4:143329000-143336200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr4:143329000-143336600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr4:143329000-143338200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:143329000-143350000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:143329800-143337200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:143330000-143334800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:143330000-143335000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:143330000-143335600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:143330000-143337400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:143330000-143338000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:143330200-143344800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:143330400-143337400	Weak transcription	NHDF-Ad	bronchial
20	chr4:143331400-143337800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:143331600-143336400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:143332200-143336600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:143333000-143336600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:143333600-143336600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:143333800-143336600	Enhancers	HMEC	breast
26	chr4:143334000-143335200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr4:143334000-143336400	Enhancers	HSMMtube	muscle
28	chr4:143334200-143334800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:143334200-143334800	Weak transcription	A549	lung
30	chr4:143334200-143335200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr4:143334200-143336400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:143334200-143337400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:143334400-143336200	Enhancers	NHEK	skin
34	chr4:143334400-143337400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:143334600-143335000	Enhancers	Primary T cells from cord blood	blood
36	chr4:143334600-143335000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:143334600-143335000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:143334600-143335200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:143334600-143335600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:143334600-143335800	Weak transcription	HSMM	muscle
41	chr4:143334600-143336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links