Variant report

Variant	rs34784181
Chromosome Location	chr2:62690914-62690915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:62690827..62693709-chr2:62697942..62699978,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11673903	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11680698	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11899341	0.96[EUR][1000 genomes]
rs7581180	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62684800-62693600	Weak transcription	Right Atrium	heart
2	chr2:62684800-62700800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:62685000-62691200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:62685000-62694600	Enhancers	HepG2	liver
5	chr2:62685000-62696600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:62685600-62693400	Weak transcription	Ovary	ovary
7	chr2:62686200-62693400	Weak transcription	Adipose Nuclei	Adipose
8	chr2:62686200-62699000	Weak transcription	HSMMtube	muscle
9	chr2:62686600-62691200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:62686600-62692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:62687400-62693600	Weak transcription	Fetal Brain Female	brain
12	chr2:62687600-62693400	Weak transcription	Fetal Brain Male	brain
13	chr2:62688000-62693200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:62688200-62691200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:62688200-62692800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:62688200-62693000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:62688200-62693200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:62689200-62691400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:62689200-62693400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:62689200-62694400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:62689200-62694400	Weak transcription	NHEK	skin
22	chr2:62689400-62693400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:62689400-62693400	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:62689400-62693400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:62689400-62693400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:62689400-62694400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:62689400-62694600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:62689400-62694600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:62689600-62691600	Enhancers	Liver	Liver
30	chr2:62689600-62693000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:62689600-62693000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:62689600-62693400	Weak transcription	Esophagus	oesophagus
33	chr2:62689600-62693600	Weak transcription	NHDF-Ad	bronchial
34	chr2:62689600-62693600	Weak transcription	NHLF	lung
35	chr2:62689600-62697000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:62689800-62691600	Weak transcription	Osteobl	bone
37	chr2:62689800-62693600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:62690000-62693600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:62690200-62691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:62690200-62693000	Weak transcription	A549	lung
41	chr2:62690400-62692800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:62690400-62694600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:62690400-62700600	Weak transcription	Fetal Intestine Large	intestine
44	chr2:62690600-62691800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr2:62690800-62691000	Enhancers	Placenta	Placenta
46	chr2:62690800-62691600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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