Variant report

Variant	rs819847
Chromosome Location	chr3:155664378-155664379
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	chr3:155659879..155663978-chr3:155664287..155669186,7	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12491537	0.84[EUR][1000 genomes]
rs13060931	0.83[EUR][1000 genomes]
rs1878213	0.85[EUR][1000 genomes]
rs386067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680221	0.85[EUR][1000 genomes]
rs4680225	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4680226	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62286802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62286805	0.85[EUR][1000 genomes]
rs6441026	0.85[EUR][1000 genomes]
rs6441027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768724	0.85[EUR][1000 genomes]
rs7625201	0.85[EUR][1000 genomes]
rs7636930	0.85[EUR][1000 genomes]
rs7643525	0.85[EUR][1000 genomes]
rs819845	0.87[EUR][1000 genomes]
rs819846	0.85[EUR][1000 genomes]
rs819862	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9840456	0.85[EUR][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	nsv877680	chr3:155438022-155723064	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2753744	chr3:155487298-155707298	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155590200-155667400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:155607400-155669000	Weak transcription	Pancreas	Pancrea
3	chr3:155633800-155668200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:155635800-155664400	Weak transcription	Gastric	stomach
5	chr3:155639600-155664400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:155639600-155671000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:155644000-155666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:155644200-155665200	Weak transcription	Fetal Stomach	stomach
9	chr3:155646200-155665200	Weak transcription	Fetal Intestine Small	intestine
10	chr3:155649000-155667400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:155654200-155675800	Weak transcription	NHEK	skin
12	chr3:155655200-155666800	Weak transcription	Lung	lung
13	chr3:155655200-155667600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:155656000-155667200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:155656200-155670400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:155656400-155664400	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:155656600-155664400	Weak transcription	Aorta	Aorta
18	chr3:155656600-155667000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:155657000-155664400	Weak transcription	Left Ventricle	heart
20	chr3:155657000-155666800	Weak transcription	Ovary	ovary
21	chr3:155657000-155667200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:155657000-155667200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:155657200-155668200	Weak transcription	K562	blood
24	chr3:155657200-155669000	Weak transcription	Fetal Lung	lung
25	chr3:155657200-155678200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:155657600-155667200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:155658000-155667000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:155658200-155668200	Weak transcription	Placenta	Placenta
29	chr3:155658600-155666600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:155658600-155667400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:155659400-155666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:155659600-155668800	Weak transcription	Fetal Thymus	thymus
33	chr3:155659800-155666800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:155659800-155668800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr3:155659800-155669400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:155659800-155678800	Weak transcription	A549	lung
37	chr3:155660000-155666800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:155660400-155664400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr3:155660400-155688000	Weak transcription	Hela-S3	cervix
40	chr3:155661000-155665400	Weak transcription	Dnd41	blood
41	chr3:155661800-155666400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:155663200-155664800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:155663400-155664600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:155663600-155664600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:155663600-155664600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:155663600-155664600	Enhancers	HSMM	muscle
47	chr3:155663600-155664600	Enhancers	HSMMtube	muscle
48	chr3:155663600-155664600	Enhancers	Osteobl	bone
49	chr3:155663600-155664800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:155663600-155667400	Enhancers	NHDF-Ad	bronchial

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