Variant report

Variant	rs7006994
Chromosome Location	chr8:62646793-62646794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62625633..62628053-chr8:62645304..62647717,4	MCF-7	breast:
2	chr8:62646618..62650526-chr8:62650601..62652671,5	K562	blood:
3	chr8:62625842..62628329-chr8:62645711..62649789,3	MCF-7	breast:
4	chr8:62640389..62641942-chr8:62644431..62647137,2	K562	blood:
5	chr8:62646181..62648199-chr8:62694469..62696991,2	MCF-7	breast:
6	chr8:62645030..62648026-chr8:62724465..62726005,2	K562	blood:
7	chr8:62645432..62647219-chr8:62678333..62681197,2	MCF-7	breast:
8	chr8:62646741..62649839-chr8:62670597..62672576,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264408	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000251127	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10089733	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10096620	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10098830	0.95[AFR][1000 genomes]
rs10098842	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10110165	0.92[AFR][1000 genomes]
rs10112762	0.82[AFR][1000 genomes]
rs10504332	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11785234	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992715	0.82[EUR][1000 genomes]
rs16927824	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28453030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478791	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28515925	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609354	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28624467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28662977	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737591	0.91[AFR][1000 genomes]
rs4737592	0.93[AFR][1000 genomes]
rs56084352	0.91[EUR][1000 genomes]
rs6982384	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989668	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990434	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009874	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015215	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018102	0.91[AFR][1000 genomes]
rs72659045	0.82[EUR][1000 genomes]
rs72659053	0.82[EUR][1000 genomes]
rs72659065	0.89[EUR][1000 genomes]
rs7835761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62643600-62649200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:62644000-62648600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:62644000-62648600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:62644200-62647600	Weak transcription	K562	blood
5	chr8:62644400-62647600	Weak transcription	Gastric	stomach
6	chr8:62645000-62647000	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:62645000-62647000	Enhancers	Stomach Mucosa	stomach
8	chr8:62645000-62647000	Flanking Active TSS	A549	lung
9	chr8:62645400-62647200	Enhancers	NHDF-Ad	bronchial
10	chr8:62645400-62648000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:62645600-62647000	Enhancers	Adipose Nuclei	Adipose
12	chr8:62645600-62647000	Enhancers	Fetal Lung	lung
13	chr8:62645600-62647000	Enhancers	Small Intestine	intestine
14	chr8:62645600-62647200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:62645800-62647000	Enhancers	NHLF	lung
16	chr8:62645800-62647200	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:62645800-62647200	Enhancers	Fetal Stomach	stomach
18	chr8:62645800-62647400	Enhancers	Osteobl	bone
19	chr8:62645800-62647600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:62646000-62647800	Bivalent Enhancer	HUVEC	blood vessel
21	chr8:62646200-62646800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr8:62646200-62647200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:62646200-62647200	Enhancers	HepG2	liver
24	chr8:62646400-62647000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr8:62646400-62647200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:62646400-62647200	Enhancers	Fetal Intestine Large	intestine
27	chr8:62646400-62647200	Enhancers	Fetal Intestine Small	intestine
28	chr8:62646400-62647200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr8:62646400-62650600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:62646600-62646800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:62646600-62646800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr8:62646600-62647200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr8:62646600-62648000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:62646600-62648200	Enhancers	Primary B cells from cord blood	blood
35	chr8:62646600-62649800	Enhancers	Hela-S3	cervix
36	chr8:62646600-62652400	Weak transcription	Pancreas	Pancrea

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