Variant report

Variant	rs55756195
Chromosome Location	chr2:40478711-40478712
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1651353	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55747433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72794782	0.83[EUR][1000 genomes]
rs72794786	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv524586	chr2:40447587-40497501	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873912	chr2:40468418-40492315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv873913	chr2:40469705-40485074	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40448000-40487400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40451400-40490000	Weak transcription	Dnd41	blood
3	chr2:40467800-40487400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:40470400-40481200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:40472600-40487200	Weak transcription	HSMM	muscle
6	chr2:40475800-40480000	Enhancers	Fetal Heart	heart
7	chr2:40475800-40485400	Weak transcription	Right Atrium	heart
8	chr2:40477200-40478800	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:40477600-40479000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:40477600-40479200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:40477800-40479400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr2:40477800-40479600	Enhancers	Colon Smooth Muscle	Colon
13	chr2:40477800-40479800	Enhancers	Fetal Intestine Small	intestine
14	chr2:40477800-40479800	Enhancers	Stomach Mucosa	stomach
15	chr2:40478000-40478800	Enhancers	Fetal Stomach	stomach
16	chr2:40478000-40478800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:40478000-40479400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:40478000-40479600	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:40478000-40479800	Enhancers	Fetal Intestine Large	intestine
20	chr2:40478200-40478800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:40478200-40479200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:40478400-40478800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:40478400-40478800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:40478400-40478800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:40478400-40478800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr2:40478400-40478800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr2:40478400-40478800	Enhancers	Right Ventricle	heart
28	chr2:40478400-40479000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:40478400-40479800	Enhancers	Left Ventricle	heart
30	chr2:40478600-40478800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:40478600-40478800	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:40478600-40479000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:40478600-40479000	Enhancers	Fetal Kidney	kidney
34	chr2:40478600-40481800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:40478600-40487000	Weak transcription	Hela-S3	cervix

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