Variant report

Variant	rs4922150
Chromosome Location	chr8:20136267-20136268
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11204108	0.83[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs11784923	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13256776	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13259502	0.84[GIH][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes]
rs13275384	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13280649	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1497018	0.91[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes]
rs1532445	0.87[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2132702	0.82[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs4436141	0.82[CEU][hapmap];0.86[CHD][hapmap]
rs4598258	0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs61354672	0.89[ASN][1000 genomes]
rs7818837	0.83[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7843875	0.86[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20129600-20137800	Weak transcription	Fetal Intestine Large	intestine
2	chr8:20129600-20139400	Weak transcription	NH-A	brain
3	chr8:20129800-20136400	Enhancers	NHDF-Ad	bronchial
4	chr8:20131000-20136600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:20131200-20137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:20131600-20136400	Enhancers	Primary T cells from cord blood	blood
7	chr8:20132200-20138200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:20132800-20138600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:20133000-20137600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:20133000-20137600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:20133200-20136600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:20133400-20137600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:20133400-20139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:20133600-20136800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:20133600-20139400	Weak transcription	HSMMtube	muscle
16	chr8:20133800-20136400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:20134200-20136400	Enhancers	Thymus	Thymus
18	chr8:20134800-20136800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr8:20134800-20139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:20135000-20139200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:20135400-20136400	Weak transcription	Brain Germinal Matrix	brain
22	chr8:20135400-20137600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:20135400-20137600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:20135400-20137600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:20135400-20137600	Weak transcription	Fetal Brain Male	brain
26	chr8:20135400-20138600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:20135400-20139400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:20135400-20139400	Weak transcription	Osteobl	bone
29	chr8:20135400-20139600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:20135400-20145400	Weak transcription	Fetal Lung	lung
31	chr8:20135600-20137600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:20135600-20139200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:20135600-20139400	Weak transcription	Placenta	Placenta
34	chr8:20135800-20136400	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:20135800-20136600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:20135800-20137000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr8:20135800-20137600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:20135800-20137800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:20135800-20138000	Weak transcription	Fetal Brain Female	brain
40	chr8:20135800-20141200	Weak transcription	Right Atrium	heart
41	chr8:20136000-20136400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:20136000-20136800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:20136000-20137400	Enhancers	Dnd41	blood
44	chr8:20136000-20137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:20136000-20138000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:20136000-20138000	Weak transcription	HSMM	muscle
47	chr8:20136000-20139200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:20136000-20139400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:20136000-20139600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:20136000-20139600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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