Variant report

Variant	rs17634771
Chromosome Location	chr7:50541554-50541555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50540382..50543888-chr7:50545544..50548848,3	K562	blood:

Variant related genes	Relation type
ENSG00000132437	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10268819	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10499696	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1107743	1.00[JPT][hapmap]
rs11575282	1.00[JPT][hapmap]
rs11575286	1.00[JPT][hapmap]
rs11575298	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11575300	0.80[EUR][1000 genomes]
rs11575301	0.80[EUR][1000 genomes]
rs11575313	1.00[JPT][hapmap]
rs11575321	1.00[JPT][hapmap]
rs11575322	1.00[JPT][hapmap]
rs11575342	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11575404	1.00[JPT][hapmap]
rs11575429	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11575548	1.00[JPT][hapmap]
rs11575553	1.00[JPT][hapmap]
rs11770199	1.00[CHB][hapmap]
rs11771818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772525	1.00[CHB][hapmap]
rs1349491	1.00[JPT][hapmap]
rs1466163	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs17553036	1.00[JPT][hapmap]
rs17553791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs17634717	1.00[JPT][hapmap]
rs17634958	1.00[JPT][hapmap]
rs17635123	1.00[JPT][hapmap]
rs2242041	1.00[JPT][hapmap]
rs2329367	1.00[JPT][hapmap]
rs2329486	1.00[CHB][hapmap]
rs2715126	1.00[JPT][hapmap]
rs2715129	1.00[CHB][hapmap]
rs2876830	1.00[JPT][hapmap]
rs3177656	1.00[JPT][hapmap]
rs3807553	1.00[JPT][hapmap]
rs4947714	1.00[CHB][hapmap]
rs6975015	0.81[EUR][1000 genomes]
rs7785984	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7809234	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs7810039	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50535800-50546800	Weak transcription	Pancreas	Pancrea
2	chr7:50535800-50553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:50536000-50542800	Weak transcription	Colonic Mucosa	Colon
4	chr7:50536200-50542200	Strong transcription	Fetal Intestine Small	intestine
5	chr7:50536200-50545400	Weak transcription	Right Atrium	heart
6	chr7:50536400-50541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:50536400-50541800	Strong transcription	Fetal Intestine Large	intestine
8	chr7:50536600-50543000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:50540600-50542800	Enhancers	Stomach Smooth Muscle	stomach
10	chr7:50540800-50542200	Enhancers	Psoas Muscle	Psoas
11	chr7:50540800-50543400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr7:50540800-50543400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:50540800-50543400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:50541400-50542200	Enhancers	Rectal Smooth Muscle	rectum
15	chr7:50541400-50542200	Strong transcription	HepG2	liver
16	chr7:50541400-50542800	Enhancers	Colon Smooth Muscle	Colon

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