Variant report

Variant	rs12085822
Chromosome Location	chr1:95615554-95615555
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	chr1:95596200..95598459-chr1:95614133..95616898,2	K562	blood:
2	chr1:95596200..95598565-chr1:95613847..95616898,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10874906	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10874908	0.81[ASN][1000 genomes]
rs11165314	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11165317	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165318	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165319	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165333	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165343	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11165346	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11165349	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12021650	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12034397	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12036706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037572	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12048133	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12067935	0.88[AMR][1000 genomes]
rs12084387	0.88[AMR][1000 genomes]
rs12401359	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12407571	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408858	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1927043	0.89[ASN][1000 genomes]
rs2147587	0.81[ASN][1000 genomes]
rs2148797	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296308	0.81[ASN][1000 genomes]
rs259340	0.87[AMR][1000 genomes]
rs259341	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs259348	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs259351	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259353	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259356	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3738171	0.81[ASN][1000 genomes]
rs3753872	0.81[ASN][1000 genomes]
rs3767313	0.81[ASN][1000 genomes]
rs3767315	0.81[ASN][1000 genomes]
rs3820345	0.81[ASN][1000 genomes]
rs4950024	0.81[ASN][1000 genomes]
rs547339	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs564610	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs592097	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61771764	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61771765	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61771766	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs658018	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6666528	0.81[ASN][1000 genomes]
rs6671408	0.81[ASN][1000 genomes]
rs6702139	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs688633	0.83[AMR][1000 genomes];0.85[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95584000-95629400	Weak transcription	Aorta	Aorta
2	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:95592800-95634200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:95592800-95661800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:95598800-95633800	Weak transcription	Fetal Heart	heart
6	chr1:95600000-95650200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:95601200-95618400	Weak transcription	Pancreas	Pancrea
8	chr1:95601800-95633600	Weak transcription	HepG2	liver
9	chr1:95602200-95628000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:95602800-95628800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:95602800-95634200	Weak transcription	Left Ventricle	heart
12	chr1:95603000-95640800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:95604200-95630000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:95605600-95618000	Weak transcription	Fetal Lung	lung
15	chr1:95609000-95629000	Weak transcription	Fetal Intestine Small	intestine
16	chr1:95610600-95620200	Strong transcription	K562	blood
17	chr1:95610600-95628200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:95611400-95628000	Weak transcription	Brain Anterior Caudate	brain
19	chr1:95611800-95630600	Weak transcription	A549	lung
20	chr1:95612400-95629600	Weak transcription	Fetal Intestine Large	intestine
21	chr1:95612800-95616600	Strong transcription	Liver	Liver
22	chr1:95614800-95629200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:95615000-95628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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