Variant report

Variant	rs2582780
Chromosome Location	chr1:120331433-120331434
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120329924..120336261-chr1:120336777..120341772,6	K562	blood:
2	chr1:120330723..120332386-chr1:120334423..120336178,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1163542	1.00[EUR][1000 genomes]
rs1163543	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1163544	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1163550	1.00[EUR][1000 genomes]
rs1177389	0.99[EUR][1000 genomes]
rs12132674	0.95[EUR][1000 genomes]
rs1814447	0.97[EUR][1000 genomes]
rs2282402	0.94[ASN][1000 genomes]
rs2582779	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582782	0.99[EUR][1000 genomes]
rs2582785	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582786	0.97[EUR][1000 genomes]
rs2582790	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2843014	0.99[EUR][1000 genomes]
rs2843015	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2843016	0.98[EUR][1000 genomes]
rs2843017	0.97[EUR][1000 genomes]
rs72695189	0.96[EUR][1000 genomes]
rs753425	0.97[EUR][1000 genomes]
rs930448	0.97[EUR][1000 genomes]
rs935060	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs978730	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120323800-120332600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:120324800-120335000	Enhancers	Fetal Intestine Large	intestine
3	chr1:120324800-120335000	Enhancers	Fetal Intestine Small	intestine
4	chr1:120325400-120331600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:120325600-120333600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:120327200-120336400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:120327400-120337000	Weak transcription	Colonic Mucosa	Colon
8	chr1:120328400-120336800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:120328600-120333200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:120328800-120333200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:120328800-120333600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:120329000-120332800	Weak transcription	Fetal Stomach	stomach
13	chr1:120329600-120333600	Weak transcription	Gastric	stomach
14	chr1:120330000-120334400	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:120330200-120332800	Weak transcription	Small Intestine	intestine
16	chr1:120330200-120333600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:120330200-120336000	Weak transcription	Esophagus	oesophagus
18	chr1:120330600-120333200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:120330600-120333600	Weak transcription	Pancreas	Pancrea
20	chr1:120330600-120336000	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:120330800-120332000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:120330800-120332800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:120330800-120333200	Weak transcription	Placenta	Placenta
24	chr1:120330800-120335800	Weak transcription	Fetal Lung	lung
25	chr1:120331000-120332800	Weak transcription	Stomach Mucosa	stomach
26	chr1:120331000-120335800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:120331000-120337800	Weak transcription	HMEC	breast
28	chr1:120331200-120332600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:120331200-120332800	Weak transcription	HepG2	liver
30	chr1:120331200-120333000	Weak transcription	Fetal Kidney	kidney
31	chr1:120331200-120333200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:120331200-120336200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:120331400-120331600	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links