Variant report

Variant	rs72886536
Chromosome Location	chr2:183796363-183796364
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:183796079-183798693	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:183790442..183793000-chr2:183794575..183797188,2	K562	blood:
2	chr2:183786363..183790600-chr2:183794242..183796759,3	K562	blood:
3	chr2:183794651..183797325-chr2:183799133..183802180,3	K562	blood:
4	chr2:183787824..183790280-chr2:183794708..183796727,2	K562	blood:

Variant related genes	Relation type
NCKAP1	TF binding region
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17265880	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2675089	0.85[EUR][1000 genomes]
rs66727515	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6711655	0.90[EUR][1000 genomes]
rs6734848	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739840	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886535	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886597	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72888442	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72888444	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72888445	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72888453	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72888459	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72888467	0.95[EUR][1000 genomes]
rs72888485	0.96[EUR][1000 genomes]
rs72888487	0.96[EUR][1000 genomes]
rs7575613	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7602601	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3693446	chr2:183785598-183833514	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183757400-183797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:183765600-183805200	Weak transcription	Gastric	stomach
3	chr2:183768600-183811600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:183769800-183811800	Weak transcription	Small Intestine	intestine
5	chr2:183772400-183799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:183772400-183811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
8	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
9	chr2:183775600-183833000	Weak transcription	Pancreas	Pancrea
10	chr2:183780000-183807000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:183780400-183800800	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
13	chr2:183780800-183811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:183781000-183798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:183781200-183798200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:183781200-183805800	Weak transcription	Fetal Heart	heart
17	chr2:183782200-183814200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:183783000-183799600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:183784600-183804400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:183784800-183811400	Strong transcription	Fetal Intestine Large	intestine
21	chr2:183785800-183803800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:183785800-183824200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:183786000-183803800	Strong transcription	HSMM	muscle
24	chr2:183786000-183804400	Strong transcription	HUVEC	blood vessel
25	chr2:183786200-183798400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:183786200-183804200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr2:183786400-183800000	Weak transcription	Fetal Brain Female	brain
28	chr2:183786400-183814200	Weak transcription	Aorta	Aorta
29	chr2:183786600-183826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:183787000-183824000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:183788000-183830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:183788200-183845600	Weak transcription	Lung	lung
33	chr2:183788400-183798000	Weak transcription	Fetal Stomach	stomach
34	chr2:183788400-183798200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:183788400-183809600	Strong transcription	NH-A	brain
36	chr2:183788400-183811600	Weak transcription	Right Ventricle	heart
37	chr2:183788600-183798000	Weak transcription	Fetal Intestine Small	intestine
38	chr2:183789200-183806200	Weak transcription	Brain Angular Gyrus	brain
39	chr2:183789200-183836400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:183789400-183811600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:183789600-183812600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:183789800-183796800	Weak transcription	Brain Anterior Caudate	brain
43	chr2:183790200-183796400	Strong transcription	Liver	Liver
44	chr2:183790200-183814400	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:183790800-183824200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:183791200-183808600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:183791800-183802000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:183792400-183797000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:183792600-183811400	Weak transcription	Hela-S3	cervix
50	chr2:183793200-183799200	Weak transcription	Fetal Lung	lung

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