Variant report

Variant	rs72950200
Chromosome Location	chr4:149229441-149229442
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:149225536..149228131-chr4:149228809..149230483,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10008249	1.00[AMR][1000 genomes]
rs10008590	1.00[AMR][1000 genomes]
rs10010607	1.00[AMR][1000 genomes]
rs10011595	1.00[AMR][1000 genomes]
rs10012283	1.00[AMR][1000 genomes]
rs10012907	1.00[AMR][1000 genomes]
rs10025629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10026826	1.00[AMR][1000 genomes]
rs10029951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10033445	1.00[AMR][1000 genomes]
rs10034151	1.00[AMR][1000 genomes]
rs10034617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11099685	1.00[AMR][1000 genomes]
rs2037480	1.00[AMR][1000 genomes]
rs28369259	1.00[AMR][1000 genomes]
rs28377573	1.00[AMR][1000 genomes]
rs28391722	1.00[AMR][1000 genomes]
rs28407287	1.00[AFR][1000 genomes]
rs28408757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452605	1.00[AMR][1000 genomes]
rs28498606	1.00[AMR][1000 genomes]
rs28500506	1.00[AMR][1000 genomes]
rs28549338	1.00[AMR][1000 genomes]
rs28663510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28672384	1.00[AMR][1000 genomes]
rs28696003	1.00[AMR][1000 genomes]
rs28696868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28702892	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28723458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28798239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28837820	1.00[AMR][1000 genomes]
rs28848778	1.00[AMR][1000 genomes]
rs28886306	1.00[AMR][1000 genomes]
rs28897121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4087964	1.00[AMR][1000 genomes]
rs4087965	1.00[AMR][1000 genomes]
rs58411881	1.00[AMR][1000 genomes]
rs59699864	1.00[AMR][1000 genomes]
rs59761460	1.00[AMR][1000 genomes]
rs61760022	1.00[AMR][1000 genomes]
rs72950130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950143	1.00[AMR][1000 genomes]
rs72950148	1.00[AMR][1000 genomes]
rs72950178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950189	0.86[AFR][1000 genomes]
rs72950201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951945	1.00[AFR][1000 genomes]
rs72951952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951978	1.00[AFR][1000 genomes]
rs73855926	1.00[AMR][1000 genomes]
rs9997923	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1031815	chr4:149172485-149282928	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1028105	chr4:149199913-149284620	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537297	chr4:149199913-149284620	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149206400-149231600	Weak transcription	Right Ventricle	heart
2	chr4:149215200-149232800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:149216800-149238000	Weak transcription	Lung	lung
4	chr4:149221000-149232000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:149225000-149232000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:149226000-149232000	Weak transcription	Pancreas	Pancrea
7	chr4:149227200-149231400	Weak transcription	Psoas Muscle	Psoas
8	chr4:149227200-149232000	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:149227200-149232000	Weak transcription	Left Ventricle	heart
10	chr4:149227400-149231600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:149227400-149232000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:149227400-149232600	Weak transcription	Fetal Stomach	stomach
13	chr4:149227400-149234200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:149227400-149234600	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:149229200-149230000	Enhancers	Ovary	ovary

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