Variant report

Variant	rs1137517
Chromosome Location	chr8:86122837-86122838
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86088694..86090413-chr8:86121459..86123027,2	MCF-7	breast:
2	chr8:86115871..86119443-chr8:86120230..86123216,3	K562	blood:

Variant related genes	Relation type
ENSG00000254208	Chromatin interaction
ENSG00000133740	Chromatin interaction
ENSG00000260493	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10101251	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28523659	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
3	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
6	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
7	chr8:86091800-86124200	Weak transcription	HMEC	breast
8	chr8:86101000-86124600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:86101000-86127800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:86101200-86127800	Weak transcription	Spleen	Spleen
11	chr8:86101200-86131000	Weak transcription	HepG2	liver
12	chr8:86102600-86125000	Weak transcription	Fetal Stomach	stomach
13	chr8:86102600-86125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:86102600-86128200	Weak transcription	Fetal Brain Male	brain
15	chr8:86110400-86128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:86110600-86126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:86111000-86128000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:86113000-86127800	Weak transcription	Esophagus	oesophagus
19	chr8:86113200-86123000	Weak transcription	Fetal Brain Female	brain
20	chr8:86113200-86124200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:86113200-86124400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:86113200-86124400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:86113200-86124600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:86113200-86124800	Weak transcription	Brain Anterior Caudate	brain
25	chr8:86113200-86127600	Weak transcription	Right Ventricle	heart
26	chr8:86113200-86131200	Weak transcription	Fetal Heart	heart
27	chr8:86113400-86123200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:86113400-86124000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:86113400-86124000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:86113400-86124000	Weak transcription	Left Ventricle	heart
31	chr8:86113400-86124200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:86113400-86124400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:86113400-86124800	Weak transcription	Osteobl	bone
34	chr8:86113400-86125600	Weak transcription	NHDF-Ad	bronchial
35	chr8:86113400-86125800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:86113400-86128000	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:86113400-86132000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:86113600-86128000	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:86114200-86131200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:86114400-86131200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:86114800-86130600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr8:86116000-86123200	Weak transcription	Thymus	Thymus
43	chr8:86117000-86125800	Weak transcription	NHLF	lung
44	chr8:86118000-86124800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:86118200-86126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:86118400-86127000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:86118800-86124200	Weak transcription	NH-A	brain
48	chr8:86118800-86127600	Weak transcription	Lung	lung
49	chr8:86118800-86127600	Weak transcription	Small Intestine	intestine
50	chr8:86118800-86128200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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