Variant report

Variant	rs7016149
Chromosome Location	chr8:20147062-20147063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20144491..20147216-chr8:20149456..20152230,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11204109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12114422	0.90[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12545373	0.90[CHB][hapmap];0.90[YRI][hapmap];0.88[ASN][1000 genomes]
rs12546414	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs12547641	0.81[ASN][1000 genomes]
rs12675554	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs12677666	0.90[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs60077789	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62499991	0.90[ASN][1000 genomes]
rs62499992	0.91[ASN][1000 genomes]
rs62499993	0.91[ASN][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv890644	chr8:20138477-20162213	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20142000-20147400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:20144200-20154800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:20144800-20147400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:20144800-20150400	Enhancers	Fetal Muscle Leg	muscle
5	chr8:20145000-20148600	Enhancers	Fetal Thymus	thymus
6	chr8:20145200-20147200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:20145200-20147200	Weak transcription	Fetal Kidney	kidney
8	chr8:20145400-20147200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:20145400-20147200	Enhancers	Fetal Intestine Small	intestine
10	chr8:20145400-20147800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:20145400-20148600	Enhancers	Fetal Lung	lung
12	chr8:20145400-20148600	Enhancers	Placenta	Placenta
13	chr8:20145600-20147200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:20145600-20147400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:20145600-20148200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:20145600-20148600	Enhancers	Ovary	ovary
17	chr8:20145800-20147200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:20145800-20147400	Weak transcription	Osteobl	bone
19	chr8:20145800-20148000	Enhancers	Fetal Muscle Trunk	muscle
20	chr8:20145800-20148200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:20145800-20155000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:20146000-20147200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:20146000-20147400	Weak transcription	NHDF-Ad	bronchial
24	chr8:20146000-20148800	Enhancers	Fetal Stomach	stomach
25	chr8:20146000-20149600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr8:20146000-20152000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:20146200-20147600	Enhancers	Brain Germinal Matrix	brain
28	chr8:20146200-20148400	Enhancers	Dnd41	blood
29	chr8:20146200-20148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:20146200-20149000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:20146200-20152000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:20146400-20147400	Weak transcription	Esophagus	oesophagus
33	chr8:20146600-20147400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:20146600-20147600	Enhancers	HSMMtube	muscle
35	chr8:20146800-20147200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:20146800-20147400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:20146800-20147800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:20146800-20148200	Enhancers	Fetal Intestine Large	intestine
39	chr8:20146800-20148400	Enhancers	HSMM	muscle
40	chr8:20146800-20148600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:20146800-20149000	Enhancers	NHLF	lung
42	chr8:20147000-20147200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
43	chr8:20147000-20147200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:20147000-20147200	Enhancers	HMEC	breast
45	chr8:20147000-20147400	Weak transcription	Fetal Brain Male	brain
46	chr8:20147000-20147400	Enhancers	Right Atrium	heart
47	chr8:20147000-20147600	Enhancers	Pancreas	Pancrea
48	chr8:20147000-20147800	Weak transcription	Brain Anterior Caudate	brain
49	chr8:20147000-20147800	Enhancers	Fetal Brain Female	brain
50	chr8:20147000-20148600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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