Variant report

Variant	rs4922139
Chromosome Location	chr8:20084412-20084413
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:20084259-20084479	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-892P	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10095373	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11204102	0.91[CEU][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs11778205	0.87[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12335186	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13253777	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1390943	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2410638	0.87[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4921696	0.82[JPT][hapmap]
rs6586899	0.84[JPT][hapmap]
rs974994	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	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	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:20061600-20085200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:20061600-20086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:20061800-20087400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:20062000-20085000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:20063000-20087200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:20063200-20086600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:20065600-20086400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr8:20065800-20086000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:20066600-20086200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:20066600-20086200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:20067800-20089400	Weak transcription	Stomach Mucosa	stomach
13	chr8:20068000-20087200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:20071800-20086400	Strong transcription	Fetal Intestine Large	intestine
15	chr8:20074200-20088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:20075800-20084600	Strong transcription	Fetal Intestine Small	intestine
17	chr8:20076400-20089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:20076400-20090800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:20077200-20086400	Strong transcription	Liver	Liver
20	chr8:20078400-20089400	Weak transcription	Colonic Mucosa	Colon
21	chr8:20078600-20086400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:20078800-20089600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:20079400-20089400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:20079400-20093800	Weak transcription	Right Ventricle	heart
25	chr8:20079600-20087200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:20079600-20089000	Weak transcription	Fetal Brain Male	brain
27	chr8:20079600-20089200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:20079800-20089200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:20080000-20084600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:20080400-20085600	Weak transcription	HepG2	liver
31	chr8:20080600-20086400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:20080800-20084800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:20081000-20085800	Weak transcription	A549	lung
34	chr8:20081000-20086600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:20081000-20088000	Weak transcription	GM12878-XiMat	blood
36	chr8:20081000-20089200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:20081200-20084600	Strong transcription	Fetal Lung	lung
38	chr8:20081200-20084600	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:20081200-20084800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:20081400-20089400	Weak transcription	NHEK	skin
41	chr8:20081600-20089200	Weak transcription	Fetal Heart	heart
42	chr8:20081800-20084600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:20081800-20084800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:20081800-20085000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr8:20081800-20085800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:20081800-20086400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:20081800-20086400	Strong transcription	Placenta	Placenta
48	chr8:20081800-20086400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr8:20081800-20089000	Weak transcription	HUVEC	blood vessel
50	chr8:20081800-20089200	Weak transcription	Fetal Kidney	kidney

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