Variant report

Variant	rs11165317
Chromosome Location	chr1:95596555-95596556
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	chr1:95596200..95598565-chr1:95613847..95616898,3	K562	blood:
2	chr1:95596200..95598459-chr1:95614133..95616898,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10874906	0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165314	0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11165318	0.86[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165319	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165333	0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165343	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11165346	0.91[AMR][1000 genomes]
rs11165349	0.91[AMR][1000 genomes]
rs12021650	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12034397	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12036706	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12037572	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12048133	0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12067935	0.85[AMR][1000 genomes]
rs12084387	0.85[AMR][1000 genomes]
rs12085822	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12401359	0.91[AMR][1000 genomes]
rs12407571	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12408858	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1927043	0.87[ASN][1000 genomes]
rs2148797	0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs259340	0.83[AMR][1000 genomes]
rs259341	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs259348	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs259351	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs259353	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs259356	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs547339	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs564610	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs592097	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61771764	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61771765	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61771766	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs658018	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6702139	0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688633	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]

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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv870669	chr1:95586773-95690269	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95584000-95629400	Weak transcription	Aorta	Aorta
2	chr1:95584400-95603400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:95584600-95602200	Weak transcription	Right Ventricle	heart
4	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:95588200-95596600	Weak transcription	Pancreas	Pancrea
6	chr1:95588200-95599600	Weak transcription	Gastric	stomach
7	chr1:95588200-95608000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:95588400-95597800	Weak transcription	Fetal Heart	heart
9	chr1:95590000-95611000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:95591800-95602800	Enhancers	Liver	Liver
11	chr1:95592800-95596600	Weak transcription	Left Ventricle	heart
12	chr1:95592800-95634200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:95592800-95661800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:95594600-95598000	Weak transcription	HepG2	liver
15	chr1:95594600-95610600	Weak transcription	A549	lung
16	chr1:95594800-95602400	Weak transcription	K562	blood
17	chr1:95596200-95598400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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