Variant report

Variant	rs3817512
Chromosome Location	chr7:16839100-16839101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16835874..16837684-chr7:16837980..16840761,3	MCF-7	breast:
2	chr7:16838886..16840701-chr7:16920523..16922296,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173467	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10085446	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10224320	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10252977	0.95[ASN][1000 genomes]
rs10499476	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[ASN][1000 genomes]
rs12665886	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[ASN][1000 genomes]
rs12665957	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12672294	0.98[ASN][1000 genomes]
rs12672301	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12672400	0.98[ASN][1000 genomes]
rs12674385	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13229262	0.97[ASN][1000 genomes]
rs13437970	0.95[ASN][1000 genomes]
rs1525744	0.89[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs17136670	0.98[ASN][1000 genomes]
rs17150186	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[ASN][1000 genomes]
rs17629719	0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs28945075	0.83[ASN][1000 genomes]
rs28945079	0.93[ASN][1000 genomes]
rs28945083	0.85[CEU][hapmap]
rs3757454	0.98[ASN][1000 genomes]
rs3757455	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3807501	0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[ASN][1000 genomes]
rs3807502	0.98[ASN][1000 genomes]
rs3807503	0.98[ASN][1000 genomes]
rs3817502	0.98[ASN][1000 genomes]
rs3817505	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[ASN][1000 genomes]
rs3817506	0.96[ASN][1000 genomes]
rs3817507	0.96[ASN][1000 genomes]
rs3817508	0.95[ASN][1000 genomes]
rs3817509	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[ASN][1000 genomes]
rs3817510	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[ASN][1000 genomes]
rs3823653	0.98[ASN][1000 genomes]
rs55824063	0.99[ASN][1000 genomes]
rs56291875	0.98[ASN][1000 genomes]
rs57997528	0.98[ASN][1000 genomes]
rs61130271	0.99[ASN][1000 genomes]
rs62440423	0.98[ASN][1000 genomes]
rs62440424	0.96[ASN][1000 genomes]
rs62440425	0.98[ASN][1000 genomes]
rs62440459	0.99[ASN][1000 genomes]
rs73073559	0.98[ASN][1000 genomes]
rs73078122	0.83[ASN][1000 genomes]
rs73078127	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73078130	0.83[ASN][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	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv887761	chr7:16834361-17732490	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv887762	chr7:16834361-17746628	Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv887763	chr7:16834361-17750811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16814400-16843800	Weak transcription	Small Intestine	intestine
2	chr7:16823600-16843600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:16831800-16839200	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr7:16832000-16839600	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr7:16832400-16840000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr7:16833600-16839600	Strong transcription	A549	lung
7	chr7:16834000-16842400	Weak transcription	Gastric	stomach
8	chr7:16834200-16839800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr7:16835000-16844200	Weak transcription	Psoas Muscle	Psoas
10	chr7:16835800-16840000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:16838200-16839800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:16838200-16841200	Weak transcription	Colonic Mucosa	Colon
13	chr7:16838400-16840000	Weak transcription	Fetal Stomach	stomach
14	chr7:16838800-16839200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
15	chr7:16838800-16839600	Strong transcription	Fetal Intestine Small	intestine
16	chr7:16838800-16839800	Weak transcription	Stomach Mucosa	stomach

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