Variant report

Variant	rs57962861
Chromosome Location	chr8:110651091-110651092
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110414719..110417184-chr8:110648514..110651300,2	MCF-7	breast:
2	chr8:110579382..110581964-chr8:110650395..110652048,2	MCF-7	breast:
3	chr8:110640096..110643423-chr8:110647995..110651502,3	K562	blood:
4	chr8:110644089..110646105-chr8:110649563..110651332,2	K562	blood:
5	chr8:110649169..110652040-chr8:110653790..110655530,2	K562	blood:
6	chr8:110573673..110575507-chr8:110649898..110652477,2	MCF-7	breast:
7	chr8:110344019..110346826-chr8:110650680..110652185,2	K562	blood:
8	chr8:110643544..110645348-chr8:110650716..110653682,2	MCF-7	breast:
9	chr8:110550837..110554716-chr8:110650281..110652829,3	MCF-7	breast:
10	chr8:110649788..110653968-chr8:110654410..110658481,7	K562	blood:
11	chr8:110587443..110588480-chr8:110650468..110651460,3	MCF-7	breast:
12	chr8:110573839..110574809-chr8:110650720..110651406,2	MCF-7	breast:
13	chr8:110645891..110648090-chr8:110649445..110652296,2	K562	blood:
14	chr8:110553979..110556820-chr8:110650989..110652969,2	MCF-7	breast:
15	chr12:52540517..52543405-chr8:110649072..110651646,2	MCF-7	breast:
16	chr8:110650444..110652185-chr8:110656417..110658481,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248050	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000120533	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10086058	1.00[EUR][1000 genomes]
rs10091536	1.00[EUR][1000 genomes]
rs10097751	1.00[EUR][1000 genomes]
rs10101288	1.00[EUR][1000 genomes]
rs16879807	0.82[ASN][1000 genomes]
rs16879840	0.90[ASN][1000 genomes]
rs16879889	1.00[EUR][1000 genomes]
rs16879906	1.00[EUR][1000 genomes]
rs28423669	1.00[EUR][1000 genomes]
rs28571606	1.00[EUR][1000 genomes]
rs28583803	1.00[EUR][1000 genomes]
rs28593097	1.00[EUR][1000 genomes]
rs28610171	1.00[EUR][1000 genomes]
rs28623195	1.00[EUR][1000 genomes]
rs4313130	1.00[EUR][1000 genomes]
rs57167766	1.00[EUR][1000 genomes]
rs57285880	1.00[EUR][1000 genomes]
rs57964282	0.81[ASN][1000 genomes]
rs58404081	1.00[EUR][1000 genomes]
rs58910462	1.00[EUR][1000 genomes]
rs59161508	1.00[EUR][1000 genomes]
rs59981669	1.00[EUR][1000 genomes]
rs60387056	1.00[EUR][1000 genomes]
rs60841208	1.00[EUR][1000 genomes]
rs73319188	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73319190	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7817773	1.00[EUR][1000 genomes]
rs7825511	1.00[EUR][1000 genomes]
rs7825600	1.00[EUR][1000 genomes]
rs7825601	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110590200-110654800	Weak transcription	Lung	lung
2	chr8:110620400-110651200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:110620400-110654800	Weak transcription	Esophagus	oesophagus
4	chr8:110621200-110654800	Weak transcription	Fetal Brain Female	brain
5	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:110626200-110654800	Weak transcription	Brain Anterior Caudate	brain
7	chr8:110629800-110651800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:110631600-110652000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:110633200-110656000	Weak transcription	Gastric	stomach
10	chr8:110635400-110651200	Weak transcription	Fetal Brain Male	brain
11	chr8:110640200-110652000	Weak transcription	Adipose Nuclei	Adipose
12	chr8:110640200-110655200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:110641800-110651200	Weak transcription	Stomach Mucosa	stomach
14	chr8:110641800-110651600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:110643800-110655400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:110646800-110652400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:110647600-110651600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr8:110648200-110652000	Enhancers	HepG2	liver
19	chr8:110648200-110655600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:110648800-110652000	Weak transcription	Left Ventricle	heart
21	chr8:110649200-110652400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:110650200-110651400	Enhancers	Fetal Intestine Large	intestine
23	chr8:110650400-110652400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:110650400-110654800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:110650600-110651200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:110650600-110651600	Enhancers	Liver	Liver
27	chr8:110650600-110651800	Enhancers	NHEK	skin
28	chr8:110650600-110652000	Weak transcription	Pancreas	Pancrea
29	chr8:110650600-110652200	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:110650600-110653800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:110650600-110655600	Weak transcription	Right Atrium	heart
32	chr8:110650600-110656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:110651000-110651200	Enhancers	Fetal Intestine Small	intestine
34	chr8:110651000-110651400	Weak transcription	HMEC	breast
35	chr8:110651000-110652400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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