Variant report

Variant	rs12021650
Chromosome Location	chr1:95629858-95629859
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10874906	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165314	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11165317	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11165318	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165319	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165333	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11165343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11165346	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11165349	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12034397	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12036706	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12037572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12048133	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12067935	0.85[AMR][1000 genomes]
rs12084387	0.85[AMR][1000 genomes]
rs12085822	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12401359	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12407571	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12408858	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1927043	0.86[ASN][1000 genomes]
rs2148797	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259340	0.83[AMR][1000 genomes]
rs259341	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs259348	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs259351	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs259353	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs259356	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs547339	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs564610	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs592097	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61771764	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61771765	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61771766	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs658018	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6702139	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs688633	0.87[AMR][1000 genomes];0.84[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:95592800-95634200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:95592800-95661800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:95598800-95633800	Weak transcription	Fetal Heart	heart
5	chr1:95600000-95650200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:95601800-95633600	Weak transcription	HepG2	liver
7	chr1:95602800-95634200	Weak transcription	Left Ventricle	heart
8	chr1:95603000-95640800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:95604200-95630000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:95611800-95630600	Weak transcription	A549	lung
11	chr1:95618400-95639200	Weak transcription	Colonic Mucosa	Colon
12	chr1:95618600-95637600	Weak transcription	Psoas Muscle	Psoas
13	chr1:95623000-95630000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:95623600-95632800	Weak transcription	K562	blood
15	chr1:95623600-95649800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:95628000-95630200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr1:95628000-95631000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:95628600-95631000	Strong transcription	Liver	Liver
19	chr1:95628600-95637600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:95629000-95630200	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr1:95629000-95649800	Weak transcription	Brain Anterior Caudate	brain
22	chr1:95629200-95630800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr1:95629200-95637400	Weak transcription	Right Ventricle	heart
24	chr1:95629400-95630200	ZNF genes & repeats	Aorta	Aorta
25	chr1:95629400-95630200	ZNF genes & repeats	Fetal Stomach	stomach
26	chr1:95629800-95630200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr1:95629800-95630200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr1:95629800-95630600	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr1:95629800-95630800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:95629800-95631000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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