Variant report

Variant	rs11986510
Chromosome Location	chr8:110654538-110654539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110344899..110348479-chr8:110652629..110655762,4	MCF-7	breast:
2	chr8:110649169..110652040-chr8:110653790..110655530,2	K562	blood:
3	chr8:110552227..110553856-chr8:110652244..110654868,2	MCF-7	breast:
4	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:
5	chr8:110632763..110635475-chr8:110652459..110654978,2	K562	blood:

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10505131	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10505132	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11994796	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256586	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13268243	0.89[EUR][1000 genomes]
rs2702	0.91[EUR][1000 genomes]
rs3108829	0.87[EUR][1000 genomes]
rs3108832	0.85[EUR][1000 genomes]
rs3108837	0.83[EUR][1000 genomes]
rs3108853	0.90[EUR][1000 genomes]
rs3108854	0.90[EUR][1000 genomes]
rs3108862	0.90[EUR][1000 genomes]
rs3108863	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108864	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108865	0.90[EUR][1000 genomes]
rs3108869	0.88[EUR][1000 genomes]
rs3133926	0.85[EUR][1000 genomes]
rs3133927	0.85[EUR][1000 genomes]
rs3134317	0.90[EUR][1000 genomes]
rs3134319	0.90[EUR][1000 genomes]
rs3134325	0.85[EUR][1000 genomes]
rs3134331	0.83[EUR][1000 genomes]
rs6469275	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6985646	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7008447	0.82[AMR][1000 genomes];0.91[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110590200-110654800	Weak transcription	Lung	lung
2	chr8:110620400-110654800	Weak transcription	Esophagus	oesophagus
3	chr8:110621200-110654800	Weak transcription	Fetal Brain Female	brain
4	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:110626200-110654800	Weak transcription	Brain Anterior Caudate	brain
6	chr8:110633200-110656000	Weak transcription	Gastric	stomach
7	chr8:110640200-110655200	Weak transcription	Brain Angular Gyrus	brain
8	chr8:110643800-110655400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:110648200-110655600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:110650400-110654800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:110650600-110655600	Weak transcription	Right Atrium	heart
12	chr8:110650600-110656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:110651200-110655600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:110652000-110654600	Weak transcription	Fetal Brain Male	brain
15	chr8:110652400-110654800	Weak transcription	Adipose Nuclei	Adipose
16	chr8:110652400-110654800	Weak transcription	K562	blood
17	chr8:110652400-110655000	Weak transcription	HMEC	breast
18	chr8:110652400-110655000	Weak transcription	NHLF	lung
19	chr8:110652400-110655200	Weak transcription	NHEK	skin
20	chr8:110652400-110655400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:110652400-110655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:110652600-110654800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:110652600-110655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:110652600-110655000	Weak transcription	Stomach Mucosa	stomach
25	chr8:110652800-110654800	Weak transcription	Pancreas	Pancrea
26	chr8:110652800-110655000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:110652800-110655200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:110652800-110655800	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:110653000-110655600	Weak transcription	A549	lung
30	chr8:110653400-110655400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:110653600-110656000	Weak transcription	Psoas Muscle	Psoas
32	chr8:110653800-110654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:110653800-110654800	Weak transcription	GM12878-XiMat	blood
34	chr8:110653800-110654800	Weak transcription	HepG2	liver
35	chr8:110653800-110655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:110654000-110656200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:110654200-110654600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:110654400-110654600	Flanking Active TSS	Liver	Liver

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