Variant report

Variant	rs72721430
Chromosome Location	chr8:125315483-125315484
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	chr8:125309455..125311025-chr8:125315072..125317526,2	K562	blood:
2	chr8:125307762..125311080-chr8:125313612..125318794,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10090489	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093809	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10093812	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369882	0.98[ASN][1000 genomes]
rs28485247	0.90[ASN][1000 genomes]
rs28589797	0.98[ASN][1000 genomes]
rs28657471	1.00[ASN][1000 genomes]
rs4316136	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66538719	0.98[ASN][1000 genomes]
rs66579093	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67086747	1.00[ASN][1000 genomes]
rs6990592	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990925	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721427	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72721429	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72721432	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72721441	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833150	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886564	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3344377	chr8:125313371-125316194	Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3397598	chr8:125313771-125315669	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125301400-125329800	Weak transcription	HSMMtube	muscle
2	chr8:125304600-125317800	Weak transcription	Fetal Heart	heart
3	chr8:125306200-125328000	Weak transcription	A549	lung
4	chr8:125309400-125331000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:125311200-125333600	Weak transcription	Right Ventricle	heart
6	chr8:125312000-125320200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:125312000-125323800	Weak transcription	Aorta	Aorta
8	chr8:125312000-125330800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:125312400-125319400	Weak transcription	Primary T cells from cord blood	blood
10	chr8:125312400-125331000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:125312600-125326000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:125312600-125328000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:125312600-125329800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:125312600-125329800	Weak transcription	Thymus	Thymus
15	chr8:125312600-125330000	Weak transcription	Fetal Stomach	stomach
16	chr8:125312600-125333000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:125312600-125346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:125312800-125316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:125312800-125319200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:125312800-125323600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:125312800-125329800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:125312800-125329800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:125312800-125331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:125312800-125337800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:125313400-125329800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:125314000-125320200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:125314000-125326200	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:125314000-125330000	Weak transcription	Left Ventricle	heart
29	chr8:125314200-125316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:125314200-125330000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:125314200-125332000	Weak transcription	Fetal Intestine Small	intestine
32	chr8:125314200-125340200	Weak transcription	Placenta	Placenta

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