Variant report

Variant	rs12763621
Chromosome Location	chr10:50217963-50217964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50217414..50220289-chr10:50222557..50225109,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1125517	0.92[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12763646	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12764062	0.92[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12764806	0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12765128	0.90[CHB][hapmap]
rs12765141	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12767010	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12768497	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12769016	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12770669	0.92[CHB][hapmap];0.97[CHD][hapmap];0.82[TSI][hapmap]
rs12770882	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12774742	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12775861	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12775969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12776211	0.84[CHD][hapmap]
rs12779947	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12782892	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17773323	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1877798	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1877805	0.81[JPT][hapmap]
rs1877806	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1913519	0.97[EUR][1000 genomes]
rs1996185	0.97[EUR][1000 genomes]
rs2102686	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2175916	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2175917	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2254863	0.98[EUR][1000 genomes]
rs2255253	0.99[EUR][1000 genomes]
rs2255360	1.00[EUR][1000 genomes]
rs34706288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3763776	0.92[CHB][hapmap];0.97[CHD][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes]
rs3810954	0.91[ASW][hapmap];0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3938117	0.92[CHB][hapmap]
rs7078453	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7078724	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7082096	0.84[CHD][hapmap]
rs7082251	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7083453	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7912598	0.92[CHB][hapmap];0.97[CHD][hapmap];0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv6620	chr10:50197344-50224635	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50210800-50219800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50210800-50223600	Weak transcription	Spleen	Spleen
3	chr10:50213400-50223000	Enhancers	Ovary	ovary
4	chr10:50215000-50219400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:50215200-50218400	Enhancers	Fetal Brain Male	brain
6	chr10:50215200-50222400	Enhancers	Left Ventricle	heart
7	chr10:50215400-50219400	Enhancers	Fetal Stomach	stomach
8	chr10:50216000-50218000	Enhancers	Fetal Lung	lung
9	chr10:50216000-50218800	Enhancers	Right Atrium	heart
10	chr10:50216000-50219800	Enhancers	Fetal Muscle Trunk	muscle
11	chr10:50216000-50219800	Enhancers	Fetal Muscle Leg	muscle
12	chr10:50216200-50220000	Enhancers	Fetal Intestine Large	intestine
13	chr10:50216200-50221800	Enhancers	Fetal Intestine Small	intestine
14	chr10:50216600-50218200	Enhancers	Fetal Heart	heart
15	chr10:50216600-50218600	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:50216600-50219000	Enhancers	K562	blood
17	chr10:50216600-50222000	Enhancers	Right Ventricle	heart
18	chr10:50216600-50223000	Enhancers	Placenta	Placenta
19	chr10:50216800-50218400	Weak transcription	Esophagus	oesophagus
20	chr10:50216800-50218400	Enhancers	Fetal Brain Female	brain
21	chr10:50217000-50218600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr10:50217200-50219200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr10:50217200-50220600	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:50217200-50226600	Weak transcription	Aorta	Aorta
25	chr10:50217400-50218200	Enhancers	Adipose Nuclei	Adipose
26	chr10:50217400-50218400	Weak transcription	Psoas Muscle	Psoas
27	chr10:50217400-50231200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr10:50217600-50218000	Bivalent Enhancer	Fetal Kidney	kidney
29	chr10:50217600-50218600	Enhancers	Stomach Smooth Muscle	stomach
30	chr10:50217600-50218800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr10:50217600-50227000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:50217800-50218000	Enhancers	Rectal Mucosa Donor 29	rectum

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