Variant report

Variant	rs73954983
Chromosome Location	chr2:111925427-111925428
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111906145..111907968-chr2:111923810..111926255,2	K562	blood:
2	chr2:111914059..111916689-chr2:111925221..111929362,3	MCF-7	breast:
3	chr2:111923929..111929033-chr2:111931509..111935010,6	K562	blood:
4	chr2:111878223..111880850-chr2:111925023..111926756,3	K562	blood:
5	chr2:111916941..111919260-chr2:111925363..111927012,2	K562	blood:

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10165671	1.00[AMR][1000 genomes]
rs10167160	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10182176	1.00[AMR][1000 genomes]
rs10189017	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190492	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193696	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193890	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196066	1.00[AMR][1000 genomes]
rs10196162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196180	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10199467	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10201912	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388484	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13389130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392035	1.00[AMR][1000 genomes]
rs13402681	1.00[AMR][1000 genomes]
rs13421194	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13421457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452430	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41309782	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56866966	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59094500	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60702028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61178006	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6730446	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739435	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742633	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743841	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948380	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948389	1.00[AMR][1000 genomes]
rs73954946	1.00[AMR][1000 genomes]
rs73954948	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954949	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954951	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954963	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954965	1.00[AMR][1000 genomes]
rs73954977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111906600-111927000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:111915200-111925600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:111916000-111925800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:111917000-111925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:111919400-111925600	Weak transcription	Osteobl	bone
6	chr2:111919600-111926800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:111920400-111926000	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:111920400-111926200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:111920400-111926400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:111920600-111928000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:111920800-111926200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:111920800-111926400	Weak transcription	Fetal Brain Female	brain
13	chr2:111920800-111943000	Weak transcription	Right Ventricle	heart
14	chr2:111921000-111925600	Strong transcription	HepG2	liver
15	chr2:111921200-111939400	Weak transcription	Right Atrium	heart
16	chr2:111921400-111925600	Weak transcription	Small Intestine	intestine
17	chr2:111921400-111926200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:111921400-111928800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:111921400-111932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:111921600-111925600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:111922200-111928600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:111922800-111925600	Strong transcription	Fetal Stomach	stomach
23	chr2:111923000-111925800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:111923000-111926000	Weak transcription	Fetal Heart	heart
25	chr2:111923000-111926400	Weak transcription	Psoas Muscle	Psoas
26	chr2:111923000-111927800	Weak transcription	Colonic Mucosa	Colon
27	chr2:111923000-111929000	Weak transcription	Spleen	Spleen
28	chr2:111923200-111926800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:111923200-111927000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:111923400-111925600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:111923400-111925600	Weak transcription	NHDF-Ad	bronchial
32	chr2:111923400-111926000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:111923400-111928000	Weak transcription	Primary B cells from cord blood	blood
34	chr2:111923800-111929600	Weak transcription	Aorta	Aorta
35	chr2:111924000-111925600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:111924000-111926200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:111924000-111926200	Weak transcription	Left Ventricle	heart
38	chr2:111924000-111926200	Weak transcription	Lung	lung
39	chr2:111924000-111926400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:111924000-111926400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:111924000-111929000	Weak transcription	Pancreas	Pancrea
42	chr2:111924000-111931600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:111924200-111925600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:111924200-111926400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:111924200-111926600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:111924200-111927400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:111924400-111928200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:111924400-111931600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:111924600-111925800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:111924800-111925800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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