Variant report

Variant	rs12562383
Chromosome Location	chr1:120305525-120305526
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120305431..120308946-chr1:120308988..120311839,5	K562	blood:

Variant related genes	Relation type
ENSG00000134240	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12121219	0.83[MKK][hapmap]
rs1441008	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs1441009	0.83[YRI][hapmap]
rs1441010	0.81[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17186233	0.83[MKK][hapmap]
rs3790692	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3790693	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3790694	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3790696	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3828089	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4659019	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs4659233	0.89[ASW][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];0.81[AFR][1000 genomes]
rs608358	0.82[CHB][hapmap]

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	nsv831204	chr1:120266449-120314091	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120286800-120310000	Weak transcription	Psoas Muscle	Psoas
2	chr1:120287000-120308200	Weak transcription	Stomach Mucosa	stomach
3	chr1:120287200-120308800	Weak transcription	Fetal Kidney	kidney
4	chr1:120288000-120306800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:120289600-120306200	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr1:120291000-120306800	Weak transcription	Esophagus	oesophagus
7	chr1:120291000-120310600	Weak transcription	Placenta	Placenta
8	chr1:120298200-120312200	Weak transcription	Right Ventricle	heart
9	chr1:120298400-120306800	Weak transcription	Gastric	stomach
10	chr1:120301000-120306800	Weak transcription	Fetal Stomach	stomach
11	chr1:120301000-120311600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:120302600-120306200	Weak transcription	Fetal Intestine Large	intestine
13	chr1:120302600-120306800	Weak transcription	Left Ventricle	heart
14	chr1:120302600-120308400	Weak transcription	Colonic Mucosa	Colon
15	chr1:120302600-120308400	Weak transcription	Fetal Intestine Small	intestine
16	chr1:120302800-120306600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:120304600-120306200	Genic enhancers	Liver	Liver
18	chr1:120305000-120306800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr1:120305200-120306800	Genic enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:120305200-120306800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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