Variant report

Variant	rs17285138
Chromosome Location	chr8:131297696-131297697
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131296919..131299075-chr8:131308645..131310618,2	MCF-7	breast:
2	chr8:131296841..131298390-chr8:131305321..131307760,2	K562	blood:
3	chr8:131295924..131298030-chr8:131301524..131303913,2	K562	blood:
4	chr8:131293646..131296151-chr8:131296609..131298187,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1017281	0.90[ASN][1000 genomes]
rs10956514	0.90[ASN][1000 genomes]
rs1118887	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11774947	0.81[ASN][1000 genomes]
rs12548888	0.81[ASN][1000 genomes]
rs12549794	0.81[ASN][1000 genomes]
rs12680942	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1469288	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17284725	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2033059	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2114196	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34656350	0.90[ASN][1000 genomes]
rs4733571	0.93[ASN][1000 genomes]
rs4733572	0.85[ASN][1000 genomes]
rs4733775	0.81[ASN][1000 genomes]
rs4733777	0.93[ASN][1000 genomes]
rs4733780	0.81[ASN][1000 genomes]
rs4733781	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62524650	0.81[ASN][1000 genomes]
rs62525919	0.90[ASN][1000 genomes]
rs62525931	0.82[ASN][1000 genomes]
rs6470812	0.82[ASN][1000 genomes]
rs7012705	0.81[ASN][1000 genomes]
rs72722365	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7839155	0.88[ASN][1000 genomes]
rs876575	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9643252	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131282000-131298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:131282400-131314800	Weak transcription	Gastric	stomach
3	chr8:131283800-131299200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:131289000-131299600	Weak transcription	Pancreas	Pancrea
5	chr8:131289400-131300000	Weak transcription	Fetal Brain Female	brain
6	chr8:131289400-131303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:131289400-131304200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:131289600-131300200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:131289600-131300200	Weak transcription	Fetal Intestine Small	intestine
10	chr8:131290200-131299600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:131290200-131302800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:131290200-131305400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:131290200-131305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:131291800-131300200	Weak transcription	Placenta	Placenta
15	chr8:131291800-131302400	Weak transcription	Left Ventricle	heart
16	chr8:131291800-131305400	Weak transcription	Lung	lung
17	chr8:131292600-131298000	Weak transcription	NHEK	skin
18	chr8:131292600-131301800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:131292600-131303000	Weak transcription	Adipose Nuclei	Adipose
20	chr8:131292800-131297800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:131292800-131300200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:131292800-131302000	Weak transcription	NH-A	brain
23	chr8:131292800-131304800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:131293600-131300600	Weak transcription	A549	lung
25	chr8:131293800-131299000	Weak transcription	HepG2	liver
26	chr8:131294000-131300000	Weak transcription	HUVEC	blood vessel
27	chr8:131295200-131300600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr8:131295200-131302600	Weak transcription	NHDF-Ad	bronchial
29	chr8:131295400-131298200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:131295400-131298600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:131295400-131299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:131295800-131300000	Enhancers	Primary T cells from cord blood	blood
33	chr8:131296000-131297800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:131296000-131298400	Genic enhancers	HSMM	muscle
35	chr8:131296000-131299400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:131296000-131300200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:131296000-131300400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:131296200-131299000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:131296200-131299600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:131296200-131300000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:131296600-131298000	Enhancers	Brain Hippocampus Middle	brain
42	chr8:131297000-131298000	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:131297000-131298800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:131297000-131299400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr8:131297000-131299400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:131297000-131299400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:131297000-131301000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:131297000-131302200	Weak transcription	Psoas Muscle	Psoas
49	chr8:131297200-131298000	Weak transcription	Ovary	ovary
50	chr8:131297200-131298400	Weak transcription	Brain Angular Gyrus	brain

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