Variant report

Variant	rs4585697
Chromosome Location	chr7:50615840-50615841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50609777..50612702-chr7:50615393..50617097,3	K562	blood:

Variant related genes	Relation type
ENSG00000132437	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10228056	0.93[JPT][hapmap]
rs10239937	0.94[ASN][1000 genomes]
rs10244632	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs10249982	0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10274275	0.88[ASN][1000 genomes]
rs11575282	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs11575286	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs11575313	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs11575321	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs11575322	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs11575338	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs11575349	0.85[EUR][1000 genomes]
rs12535064	0.93[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs12538830	0.93[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1349491	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs1451366	0.85[ASN][1000 genomes]
rs1451368	0.85[ASN][1000 genomes]
rs17133877	0.93[JPT][hapmap]
rs1901311	0.83[ASN][1000 genomes]
rs1901312	0.83[ASN][1000 genomes]
rs1982406	0.93[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2100279	0.85[EUR][1000 genomes]
rs2100280	0.86[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2122818	0.83[ASN][1000 genomes]
rs2122821	0.83[ASN][1000 genomes]
rs2167366	0.83[ASN][1000 genomes]
rs2198144	0.86[CHB][hapmap]
rs2329364	0.93[JPT][hapmap]
rs2876830	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs3735274	0.93[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap]
rs3807553	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs4947584	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs4947588	0.83[ASN][1000 genomes]
rs56670620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58129743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592961	0.93[CHB][hapmap];0.87[CHD][hapmap]
rs6592963	0.86[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs6592973	0.83[ASN][1000 genomes]
rs67275148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952023	0.88[ASN][1000 genomes]
rs6963534	0.85[ASN][1000 genomes]
rs6970468	0.83[ASN][1000 genomes]
rs6974583	0.83[ASN][1000 genomes]
rs73121282	0.85[EUR][1000 genomes]
rs73121285	0.85[EUR][1000 genomes]
rs73121287	0.85[EUR][1000 genomes]
rs73121290	0.85[EUR][1000 genomes]
rs73121292	0.85[EUR][1000 genomes]
rs73123220	0.84[EUR][1000 genomes]
rs73123247	0.85[EUR][1000 genomes]
rs73123249	0.85[EUR][1000 genomes]
rs73123251	0.85[EUR][1000 genomes]
rs73123254	0.85[EUR][1000 genomes]
rs73123257	0.84[EUR][1000 genomes]
rs73123261	0.85[EUR][1000 genomes]
rs73123264	0.85[EUR][1000 genomes]
rs73123266	0.85[EUR][1000 genomes]
rs73123283	0.85[EUR][1000 genomes]
rs73123285	0.85[EUR][1000 genomes]
rs73123291	0.85[EUR][1000 genomes]
rs73125208	0.83[EUR][1000 genomes]
rs73125215	0.83[EUR][1000 genomes]
rs73125225	0.83[EUR][1000 genomes]
rs7807564	0.83[ASN][1000 genomes]
rs7808025	0.93[CHB][hapmap];0.95[CHD][hapmap]
rs7809758	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs9918591	0.88[ASN][1000 genomes]
rs9918702	0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	nsv429750	chr7:50603534-50622712	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429752	chr7:50607353-50620030	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv429751	chr7:50607353-50622712	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50600600-50619400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50601600-50631400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50602600-50618200	Weak transcription	Pancreas	Pancrea
4	chr7:50611000-50631800	Weak transcription	Colonic Mucosa	Colon
5	chr7:50611600-50623800	Weak transcription	Liver	Liver
6	chr7:50612000-50619600	Weak transcription	Fetal Intestine Large	intestine
7	chr7:50612400-50617600	Weak transcription	Fetal Intestine Small	intestine
8	chr7:50613000-50621600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:50614800-50619400	Weak transcription	HepG2	liver

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