Variant report

Variant	rs6720532
Chromosome Location	chr2:153387852-153387853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153386397..153388731-chr2:153398232..153400541,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10180234	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207275	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545134	0.90[ASN][1000 genomes]
rs16831261	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831265	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2459776	0.89[ASN][1000 genomes]
rs2577176	0.90[ASN][1000 genomes]
rs2577180	0.99[ASN][1000 genomes]
rs2577181	0.98[ASN][1000 genomes]
rs2678296	0.81[AMR][1000 genomes]
rs2678303	0.90[ASN][1000 genomes]
rs2678304	0.90[ASN][1000 genomes]
rs2678305	0.88[ASN][1000 genomes]
rs6717982	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721601	0.95[ASN][1000 genomes]
rs6760139	0.89[ASN][1000 genomes]
rs73002191	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7421149	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7591606	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7595822	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9967814	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153376000-153388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:153376600-153390600	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:153381200-153388200	Enhancers	Brain Hippocampus Middle	brain
5	chr2:153381200-153388200	Enhancers	Brain Substantia Nigra	brain
6	chr2:153382400-153393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:153383000-153388000	Weak transcription	Psoas Muscle	Psoas
9	chr2:153383000-153390800	Weak transcription	Ovary	ovary
10	chr2:153383000-153391000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:153383000-153391200	Weak transcription	Aorta	Aorta
12	chr2:153383000-153392000	Weak transcription	Lung	lung
13	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
14	chr2:153383200-153388400	Weak transcription	NHDF-Ad	bronchial
15	chr2:153383200-153393200	Weak transcription	NHEK	skin
16	chr2:153383600-153391400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:153384000-153398200	Weak transcription	HMEC	breast
18	chr2:153384600-153388000	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:153384800-153388000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:153385400-153388400	Enhancers	Brain Anterior Caudate	brain
21	chr2:153385600-153390600	Weak transcription	HepG2	liver
22	chr2:153386200-153399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:153386200-153399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:153386400-153388200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:153386600-153388000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:153386600-153391400	Weak transcription	Brain Angular Gyrus	brain
27	chr2:153386800-153390600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:153386800-153392200	Weak transcription	Fetal Stomach	stomach
29	chr2:153386800-153400000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:153387000-153390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:153387000-153390600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:153387000-153391000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:153387000-153392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:153387600-153388000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:153387600-153389000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:153387600-153390800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:153387600-153392800	Weak transcription	Fetal Kidney	kidney
38	chr2:153387800-153388400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links