Variant report

Variant	rs263692
Chromosome Location	chr2:211030469-211030470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:211024722..211030637-chr2:211032181..211037580,16	K562	blood:
2	chr2:211023987..211026400-chr2:211029886..211031396,2	K562	blood:
3	chr2:211023133..211025046-chr2:211028754..211030676,2	MCF-7	breast:
4	chr2:211024842..211031528-chr2:211032039..211037580,15	K562	blood:

Variant related genes	Relation type
ENSG00000144445	Chromatin interaction
ENSG00000231294	Chromatin interaction
ENSG00000263530	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10207166	0.87[YRI][hapmap]
rs10210462	1.00[MEX][hapmap]
rs11682724	0.85[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes]
rs11888495	1.00[MEX][hapmap]
rs13426138	1.00[MEX][hapmap]
rs2041654	0.92[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs2110315	0.97[MKK][hapmap]
rs2539009	1.00[MEX][hapmap]
rs263671	1.00[MEX][hapmap]
rs263672	0.83[ASW][hapmap];1.00[MEX][hapmap]
rs4673499	0.83[ASW][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6723779	1.00[EUR][1000 genomes]
rs7559579	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7567227	0.92[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7573093	1.00[MEX][hapmap]
rs7586674	0.92[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv875766	chr2:210996084-211033176	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211002200-211031400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:211006200-211032000	Weak transcription	HUVEC	blood vessel
3	chr2:211008000-211032000	Weak transcription	HSMM	muscle
4	chr2:211010200-211034600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:211010800-211030800	Weak transcription	Esophagus	oesophagus
6	chr2:211010800-211033200	Weak transcription	Fetal Brain Male	brain
7	chr2:211010800-211034400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:211011000-211031200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:211011000-211032800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:211011000-211032800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:211011000-211033800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:211011000-211033800	Weak transcription	Ovary	ovary
13	chr2:211013200-211034000	Weak transcription	Primary B cells from cord blood	blood
14	chr2:211015600-211033800	Weak transcription	Fetal Stomach	stomach
15	chr2:211016600-211031400	Weak transcription	Hela-S3	cervix
16	chr2:211018600-211033000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:211018800-211034200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:211019000-211031800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:211019000-211033200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:211019200-211031200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:211019200-211031200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:211019200-211032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:211019200-211032800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:211019200-211033000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:211019200-211033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:211019200-211034400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:211019400-211031200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:211019400-211031800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:211019400-211032600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:211019400-211033200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:211019400-211033200	Weak transcription	Brain Germinal Matrix	brain
32	chr2:211019400-211033200	Weak transcription	HSMMtube	muscle
33	chr2:211019400-211033400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:211019400-211033600	Weak transcription	Fetal Brain Female	brain
35	chr2:211019600-211032200	Weak transcription	Dnd41	blood
36	chr2:211019600-211033200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:211019800-211033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:211020000-211031400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:211020000-211032800	Weak transcription	Thymus	Thymus
40	chr2:211020400-211031600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:211022200-211032000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:211022400-211034800	Weak transcription	Pancreas	Pancrea
43	chr2:211023000-211033600	Weak transcription	Fetal Thymus	thymus
44	chr2:211023200-211033800	Weak transcription	Psoas Muscle	Psoas
45	chr2:211024200-211030600	Weak transcription	Fetal Lung	lung
46	chr2:211027400-211034400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:211027600-211033200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:211027600-211034200	Weak transcription	Right Ventricle	heart
49	chr2:211027800-211031400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:211027800-211031400	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links