Variant report

Variant	rs59858156
Chromosome Location	chr8:59326625-59326626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:59326614-59326666	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:59321605..59324137-chr8:59325281..59327832,3	K562	blood:
2	chr8:59325247..59326918-chr8:59332690..59334959,2	K562	blood:
3	chr8:59323970..59326918-chr8:59333459..59336402,2	K562	blood:
4	chr8:59311092..59312732-chr8:59325481..59327752,2	K562	blood:

Variant related genes	Relation type
UBXN2B	TF binding region
ENSG00000215114	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12675674	0.90[AMR][1000 genomes]
rs16923375	0.90[AMR][1000 genomes]
rs16923442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16923457	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16923502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16923506	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16923510	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57465869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57749758	1.00[AMR][1000 genomes]
rs59152897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59206925	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6996431	1.00[EUR][1000 genomes]
rs7016739	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8192873	1.00[AMR][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	esv2757275	chr8:59305290-59342331	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
2	esv2759619	chr8:59305290-59342331	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59324400-59335400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:59324400-59335600	Weak transcription	Spleen	Spleen
3	chr8:59324400-59337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:59324400-59341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:59324600-59326800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:59324600-59332000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:59324600-59335000	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:59324600-59335400	Weak transcription	Left Ventricle	heart
9	chr8:59324600-59335600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:59324600-59337400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:59324600-59339200	Weak transcription	Esophagus	oesophagus
12	chr8:59324800-59327000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr8:59324800-59329400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:59324800-59330200	Weak transcription	Placenta	Placenta
15	chr8:59324800-59330800	Weak transcription	HSMM	muscle
16	chr8:59324800-59333600	Weak transcription	NHDF-Ad	bronchial
17	chr8:59324800-59337400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:59324800-59337400	Weak transcription	Fetal Stomach	stomach
19	chr8:59324800-59352000	Weak transcription	HSMMtube	muscle
20	chr8:59324800-59362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:59325000-59327000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:59325000-59327000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:59325000-59329400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:59325000-59329800	Weak transcription	Adipose Nuclei	Adipose
25	chr8:59325000-59329800	Weak transcription	Fetal Thymus	thymus
26	chr8:59325000-59331800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:59325000-59332400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:59325000-59335600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:59325000-59335600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:59325000-59336400	Weak transcription	Osteobl	bone
31	chr8:59325000-59348800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:59325000-59352600	Weak transcription	Fetal Kidney	kidney
33	chr8:59325000-59357600	Weak transcription	NHLF	lung
34	chr8:59325000-59360000	Weak transcription	Right Ventricle	heart
35	chr8:59325000-59361200	Weak transcription	Psoas Muscle	Psoas
36	chr8:59325200-59333400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:59325200-59333600	Weak transcription	HMEC	breast
38	chr8:59325200-59333800	Weak transcription	NH-A	brain
39	chr8:59325200-59334200	Weak transcription	A549	lung
40	chr8:59325200-59334800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:59325200-59334800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:59325200-59335000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:59325200-59335200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:59325200-59335600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:59325200-59335800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:59325200-59338200	Weak transcription	Ovary	ovary
47	chr8:59325200-59338200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:59325200-59339200	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:59325200-59351200	Weak transcription	K562	blood
50	chr8:59325200-59370800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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