Variant report

Variant	rs6262
Chromosome Location	chr7:50595920-50595921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11575321	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs11575332	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11575339	0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11575368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11575374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11575378	1.00[ASW][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11575437	1.00[ASW][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11575525	0.82[AFR][1000 genomes]
rs2100279	0.81[AFR][1000 genomes]
rs73121287	0.81[AFR][1000 genomes]
rs73121290	0.81[AFR][1000 genomes]
rs73123220	0.81[AFR][1000 genomes]
rs73351272	1.00[AMR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription 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
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:50589000-50599200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:50595000-50597200	Enhancers	Liver	Liver
4	chr7:50595200-50596200	Genic enhancers	HepG2	liver
5	chr7:50595200-50597000	Enhancers	Gastric	stomach
6	chr7:50595200-50600000	Enhancers	Pancreas	Pancrea
7	chr7:50595200-50604600	Genic enhancers	Fetal Intestine Small	intestine
8	chr7:50595400-50596200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:50595400-50596200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:50595600-50596000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:50595800-50596000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:50595800-50596000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:50595800-50596200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:50595800-50596200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:50595800-50596200	Enhancers	Brain Germinal Matrix	brain
16	chr7:50595800-50597000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:50595800-50597400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:50595800-50599400	Enhancers	Fetal Intestine Large	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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