Variant report

Variant	rs1395373
Chromosome Location	chr3:43332890-43332891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43326351..43330245-chr3:43331873..43336524,8	MCF-7	breast:
2	chr3:43327270..43330892-chr3:43331691..43335794,4	K562	blood:
3	chr3:43326667..43329249-chr3:43332041..43333633,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163788	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1120779	1.00[MEX][hapmap];0.88[MKK][hapmap]
rs1472807	1.00[MEX][hapmap];0.88[MKK][hapmap]
rs2036616	1.00[MEX][hapmap];0.94[MKK][hapmap]
rs4346523	1.00[MEX][hapmap]
rs4569634	1.00[MEX][hapmap]
rs4642093	1.00[MEX][hapmap];0.94[MKK][hapmap]
rs4682681	0.94[MKK][hapmap]
rs4682884	1.00[MEX][hapmap]
rs6441771	1.00[MEX][hapmap];0.94[MKK][hapmap]
rs7636644	1.00[MEX][hapmap];0.94[MKK][hapmap]
rs906156	1.00[MEX][hapmap]
rs906157	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv876732	chr3:43326887-43360879	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv590154	chr3:43327873-43334020	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv590155	chr3:43327873-43334878	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv590158	chr3:43327924-43334878	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv590160	chr3:43328076-43334878	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43328800-43333000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr3:43329200-43333600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr3:43329200-43344800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:43329200-43346800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:43329400-43346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:43329600-43345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:43329800-43335000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:43330200-43333000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:43330200-43333000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr3:43330200-43333200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:43330200-43333400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:43330400-43333000	Enhancers	Gastric	stomach
13	chr3:43330400-43333000	Enhancers	Small Intestine	intestine
14	chr3:43330400-43333000	Enhancers	Spleen	Spleen
15	chr3:43330400-43333200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr3:43330400-43333400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:43330400-43333400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
18	chr3:43330400-43333600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr3:43330400-43344800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:43330600-43333200	Transcr. at gene 5' and 3'	Thymus	Thymus
21	chr3:43330600-43333400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr3:43330600-43334800	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr3:43330800-43333000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:43330800-43333000	Enhancers	Fetal Intestine Small	intestine
25	chr3:43330800-43333200	Enhancers	Stomach Mucosa	stomach
26	chr3:43330800-43336400	Weak transcription	HSMMtube	muscle
27	chr3:43330800-43344600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:43330800-43359000	Weak transcription	Fetal Brain Male	brain
29	chr3:43331000-43333200	Enhancers	Fetal Lung	lung
30	chr3:43331000-43333400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:43331000-43334200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:43331000-43335400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:43331000-43340600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr3:43331000-43344600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:43331200-43333000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
36	chr3:43331200-43333000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr3:43331200-43333400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:43331200-43333400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:43331200-43333400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
40	chr3:43331200-43334800	Genic enhancers	Dnd41	blood
41	chr3:43331200-43338200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:43331200-43344600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:43331400-43333000	Enhancers	Brain Anterior Caudate	brain
44	chr3:43331400-43333000	Active TSS	Lung	lung
45	chr3:43331400-43333200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:43331400-43333400	Enhancers	NHDF-Ad	bronchial
47	chr3:43331400-43334600	Weak transcription	Esophagus	oesophagus
48	chr3:43331400-43338000	Weak transcription	HSMM	muscle
49	chr3:43331400-43338000	Weak transcription	K562	blood
50	chr3:43331400-43344600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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