Variant report

Variant	rs1008274
Chromosome Location	chr7:126544422-126544423
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	7:126085913-126088095..7:126537894-126544517	GM12878	blood:
2	7:126537894-126544517..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1003036	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs10227752	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs10234281	0.85[CHB][hapmap]
rs10236120	0.80[CHB][hapmap]
rs10236204	0.80[CHB][hapmap]
rs1121874	0.85[CHB][hapmap]
rs1154324	0.85[CHB][hapmap]
rs11563513	0.80[CHB][hapmap]
rs1204563	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs1204567	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs1204569	0.85[CHB][hapmap]
rs1204579	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs1204588	0.85[CHB][hapmap]
rs1204593	0.85[CHB][hapmap]
rs1204594	0.85[CHB][hapmap]
rs1211384	0.85[CHB][hapmap]
rs12164089	0.80[CHB][hapmap]
rs12669064	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs12671594	0.81[CHB][hapmap]
rs1361965	0.80[CHB][hapmap]
rs1361968	0.80[CHB][hapmap]
rs1361976	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs1419465	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1419468	0.80[CHB][hapmap]
rs1419470	0.85[CHB][hapmap]
rs1419471	0.84[CHB][hapmap]
rs1548766	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1592372	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs16871742	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2022072	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs2067052	0.82[JPT][hapmap]
rs2072416	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs2188188	0.80[CHB][hapmap]
rs2518949	0.82[ASN][1000 genomes]
rs2518954	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2518955	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2535926	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs2535932	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2535933	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2535938	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2535939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3808136	0.80[CHB][hapmap]
rs3808142	0.84[CHB][hapmap]
rs4326328	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs6950713	0.85[CHB][hapmap]
rs6975379	0.85[CHB][hapmap]
rs992169	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv608376	chr7:126457779-126571077	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758132	chr7:126494789-126677843	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759562	chr7:126494789-126677843	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv427805	chr7:126494789-126677843	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1849599	chr7:126507755-126557892	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv981575	chr7:126520557-126563439	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv16629	chr7:126531997-126552956	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv5940	chr7:126535731-126580660	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126544200-126545000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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