Variant report

Variant	rs62179623
Chromosome Location	chr2:153486703-153486704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153480491..153482921-chr2:153485255..153487403,2	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10048775	0.91[EUR][1000 genomes]
rs10169433	0.82[EUR][1000 genomes]
rs13413144	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13427289	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1437677	0.83[EUR][1000 genomes]
rs2450	0.82[EUR][1000 genomes]
rs4664120	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4664599	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4664608	0.82[EUR][1000 genomes]
rs56191709	0.83[EUR][1000 genomes]
rs62179597	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62179635	0.82[EUR][1000 genomes]
rs62179636	0.82[EUR][1000 genomes]
rs9989874	0.90[AMR][1000 genomes];0.91[EUR][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	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
2	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
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3693437	chr2:153484685-153505003	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
7	chr2:153468800-153492000	Weak transcription	Liver	Liver
8	chr2:153469000-153493800	Weak transcription	Spleen	Spleen
9	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
10	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
11	chr2:153469200-153495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:153469600-153487200	Weak transcription	Fetal Thymus	thymus
13	chr2:153469600-153496800	Weak transcription	HSMM	muscle
14	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:153473000-153500600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:153473800-153496400	Weak transcription	Osteobl	bone
18	chr2:153474400-153505000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:153475800-153493000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:153476600-153492800	Weak transcription	Gastric	stomach
21	chr2:153477600-153489800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:153477800-153488000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:153477800-153488200	Weak transcription	Pancreas	Pancrea
24	chr2:153477800-153488400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:153477800-153488400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:153477800-153493800	Weak transcription	HSMMtube	muscle
27	chr2:153477800-153496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:153477800-153496600	Weak transcription	Aorta	Aorta
29	chr2:153478200-153487000	Weak transcription	Brain Germinal Matrix	brain
30	chr2:153478600-153488600	Weak transcription	Right Ventricle	heart
31	chr2:153479400-153496200	Weak transcription	NH-A	brain
32	chr2:153479800-153488600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:153481000-153488000	Strong transcription	HepG2	liver
34	chr2:153481000-153490200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:153481200-153491200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:153481200-153493400	Weak transcription	Fetal Brain Male	brain
37	chr2:153481200-153502200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:153481200-153502400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:153481400-153490400	Strong transcription	NHEK	skin
40	chr2:153481400-153502400	Strong transcription	Placenta	Placenta
41	chr2:153481400-153503000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:153481600-153489400	Strong transcription	HMEC	breast
43	chr2:153482000-153487000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:153482000-153490600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:153482000-153493600	Weak transcription	NHLF	lung
46	chr2:153482400-153488000	Weak transcription	A549	lung
47	chr2:153483000-153487000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:153483000-153491200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:153483600-153488400	Weak transcription	Fetal Kidney	kidney
50	chr2:153483800-153487000	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links