Variant report

Variant	rs3779787
Chromosome Location	chr8:19797916-19797917
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19797802..19799354-chr8:19971667..19974269,2	K562	blood:
2	chr8:19796997..19799625-chr8:19800573..19802091,2	K562	blood:
3	chr8:19797563..19799546-chr8:19810189..19812255,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10104051	0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1534649	0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs3779788	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56321069	0.94[ASN][1000 genomes]
rs7816032	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8176337	0.85[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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19795400-19802000	Active TSS	Right Ventricle	heart
2	chr8:19796200-19798000	Active TSS	Fetal Heart	heart
3	chr8:19796200-19798200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:19796200-19798200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:19796200-19798400	Active TSS	Right Atrium	heart
6	chr8:19796200-19798600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:19796200-19799200	Active TSS	Left Ventricle	heart
8	chr8:19796200-19799800	Active TSS	Fetal Brain Female	brain
9	chr8:19796400-19798000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:19796400-19798000	Active TSS	K562	blood
11	chr8:19796400-19798200	Active TSS	Brain Anterior Caudate	brain
12	chr8:19796400-19798400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:19796400-19798400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:19796400-19798400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr8:19796400-19798400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:19796400-19798600	Active TSS	Psoas Muscle	Psoas
17	chr8:19796400-19799400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:19796600-19798000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:19796600-19798000	Active TSS	Brain Angular Gyrus	brain
20	chr8:19796600-19798000	Active TSS	Ovary	ovary
21	chr8:19796600-19798200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:19796600-19798200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
23	chr8:19796600-19798200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:19796600-19798200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:19796600-19798200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr8:19796600-19798200	Flanking Active TSS	Pancreas	Pancrea
27	chr8:19796600-19798400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr8:19796600-19798400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:19796600-19798400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
30	chr8:19796600-19798400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr8:19796600-19798400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr8:19796600-19798400	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr8:19796600-19798400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr8:19796800-19798000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:19796800-19798000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr8:19796800-19798000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:19796800-19798000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:19796800-19798000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:19796800-19798000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:19796800-19798000	Active TSS	Brain Substantia Nigra	brain
41	chr8:19796800-19798000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr8:19796800-19798000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
43	chr8:19796800-19798000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr8:19796800-19798000	Active TSS	Fetal Lung	lung
45	chr8:19796800-19798200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:19796800-19798200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:19796800-19798200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr8:19796800-19798200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
49	chr8:19796800-19798200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:19796800-19798200	Active TSS	Aorta	Aorta

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