Variant report

Variant	rs17479145
Chromosome Location	chr8:118819719-118819720
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118818062..118819741-chr8:118823694..118825347,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10098896	0.83[JPT][hapmap]
rs10098992	0.92[JPT][hapmap]
rs10102974	0.85[JPT][hapmap]
rs10103242	0.83[JPT][hapmap]
rs10111990	0.83[JPT][hapmap]
rs12675718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17439576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450494	0.85[JPT][hapmap]
rs2067866	0.85[JPT][hapmap]
rs58783789	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835395	0.83[JPT][hapmap]
rs9656922	0.83[JPT][hapmap]
rs9792392	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118800600-118822800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:118802200-118821200	Strong transcription	NHDF-Ad	bronchial
4	chr8:118802400-118820400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:118804200-118836000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:118804200-118838000	Strong transcription	HSMM	muscle
7	chr8:118804800-118822400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:118805400-118821200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr8:118805400-118826000	Strong transcription	NHLF	lung
10	chr8:118805400-118836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:118805600-118849800	Strong transcription	Liver	Liver
12	chr8:118806000-118823200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:118806600-118824800	Weak transcription	Right Ventricle	heart
14	chr8:118808400-118827000	Weak transcription	Hela-S3	cervix
15	chr8:118808600-118849400	Weak transcription	Stomach Mucosa	stomach
16	chr8:118808800-118822600	Strong transcription	Osteobl	bone
17	chr8:118809000-118819800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:118809000-118820200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr8:118809200-118820000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr8:118809400-118820800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:118810000-118843800	Weak transcription	Fetal Heart	heart
22	chr8:118810200-118824600	Weak transcription	Brain Anterior Caudate	brain
23	chr8:118811000-118820800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:118811200-118820400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:118811200-118822800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:118813000-118820000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:118814000-118842200	Weak transcription	Primary B cells from cord blood	blood
28	chr8:118814200-118821200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:118814800-118820600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:118814800-118821800	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr8:118815000-118822800	Strong transcription	NH-A	brain
32	chr8:118815200-118820400	Strong transcription	Fetal Intestine Large	intestine
33	chr8:118815200-118821000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:118815400-118819800	Strong transcription	Ovary	ovary
35	chr8:118815400-118820200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:118815400-118821200	Strong transcription	NHEK	skin
37	chr8:118815400-118821400	Strong transcription	Primary T cells from cord blood	blood
38	chr8:118815400-118823200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:118815400-118834800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:118815600-118819800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr8:118815600-118822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:118815600-118823600	Strong transcription	HUVEC	blood vessel
43	chr8:118815800-118819800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:118815800-118822800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:118816000-118820200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:118816200-118820000	Strong transcription	HSMMtube	muscle
47	chr8:118816800-118836800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:118817000-118824600	Weak transcription	Fetal Brain Female	brain
49	chr8:118817000-118828600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:118817000-118833600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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