Variant report

Variant	rs11985468
Chromosome Location	chr8:126295146-126295147
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126294613..126297401-chr8:126298251..126300790,2	K562	blood:
2	chr8:126290473..126292876-chr8:126294905..126297324,3	K562	blood:
3	chr8:126282161..126284585-chr8:126291694..126295212,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242170	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10087220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10088674	1.00[EUR][1000 genomes]
rs10093674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10096127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10097356	1.00[EUR][1000 genomes]
rs10099782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104564	1.00[EUR][1000 genomes]
rs10105848	1.00[EUR][1000 genomes]
rs10106819	1.00[EUR][1000 genomes]
rs10106935	1.00[EUR][1000 genomes]
rs10106950	1.00[EUR][1000 genomes]
rs10107935	1.00[EUR][1000 genomes]
rs10108634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109000	1.00[EUR][1000 genomes]
rs10111309	1.00[EUR][1000 genomes]
rs10481079	1.00[EUR][1000 genomes]
rs10481153	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481154	1.00[EUR][1000 genomes]
rs11988647	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990560	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995477	1.00[AMR][1000 genomes]
rs11998130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16900466	1.00[EUR][1000 genomes]
rs28374689	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28421051	1.00[EUR][1000 genomes]
rs28481333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28516407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609644	1.00[EUR][1000 genomes]
rs28617180	1.00[EUR][1000 genomes]
rs28676821	1.00[EUR][1000 genomes]
rs28702877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58585963	1.00[EUR][1000 genomes]
rs7015483	1.00[EUR][1000 genomes]
rs73704566	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704568	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704912	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704916	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704922	1.00[EUR][1000 genomes]
rs7826327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844941	1.00[EUR][1000 genomes]
rs9297715	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:126286200-126301600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:126286400-126296000	Weak transcription	Left Ventricle	heart
5	chr8:126286400-126296600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:126286400-126298000	Weak transcription	Pancreas	Pancrea
7	chr8:126286400-126301000	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:126286400-126301200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:126286600-126301200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:126286600-126302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:126287800-126297000	Enhancers	Fetal Thymus	thymus
12	chr8:126288800-126300400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:126290800-126298000	Weak transcription	Gastric	stomach
14	chr8:126290800-126301200	Weak transcription	Right Atrium	heart
15	chr8:126291000-126296600	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
17	chr8:126291200-126296600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:126291400-126297600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:126291400-126301400	Weak transcription	Primary T cells from cord blood	blood
21	chr8:126292000-126296000	Enhancers	Thymus	Thymus
22	chr8:126292400-126296800	Enhancers	GM12878-XiMat	blood
23	chr8:126292600-126295800	Enhancers	HepG2	liver
24	chr8:126292600-126296600	Weak transcription	Fetal Brain Male	brain
25	chr8:126292600-126299600	Weak transcription	K562	blood
26	chr8:126293000-126295600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:126293400-126295200	Enhancers	A549	lung
28	chr8:126293400-126295400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr8:126293400-126296200	Weak transcription	Adipose Nuclei	Adipose
30	chr8:126293400-126296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:126293400-126301200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:126293600-126295400	Enhancers	Liver	Liver
33	chr8:126293600-126296600	Weak transcription	Fetal Heart	heart
34	chr8:126293600-126297400	Weak transcription	HSMMtube	muscle
35	chr8:126293600-126300800	Weak transcription	HSMM	muscle
36	chr8:126293600-126301000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:126293600-126301200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:126293800-126295600	Enhancers	Dnd41	blood
39	chr8:126293800-126297000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:126293800-126297400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:126293800-126301200	Weak transcription	Fetal Lung	lung
42	chr8:126294000-126296600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:126294000-126300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:126294400-126295400	Enhancers	Fetal Intestine Small	intestine
45	chr8:126294400-126295800	Enhancers	Duodenum Mucosa	Duodenum
46	chr8:126294600-126296000	Enhancers	Small Intestine	intestine
47	chr8:126294800-126295200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr8:126294800-126295200	Enhancers	Colon Smooth Muscle	Colon
49	chr8:126294800-126295200	Enhancers	Fetal Intestine Large	intestine
50	chr8:126294800-126295200	Enhancers	Rectal Smooth Muscle	rectum

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