Variant report

Variant	rs4853680
Chromosome Location	chr2:191023961-191023962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10931445	0.91[CHD][hapmap]
rs12466564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473267	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12617376	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12623181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12993833	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35996430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853668	0.88[CHD][hapmap]
rs4853675	0.91[CHD][hapmap]
rs785254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785261	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs785264	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv526659	chr2:191023961-191027133	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191021600-191024200	Enhancers	GM12878-XiMat	blood
2	chr2:191022800-191024000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:191022800-191024400	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:191023000-191025200	Enhancers	Brain Substantia Nigra	brain
5	chr2:191023200-191026200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:191023400-191024000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:191023400-191024000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:191023400-191024000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:191023400-191024000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:191023400-191024000	Enhancers	Brain Anterior Caudate	brain
11	chr2:191023400-191024000	Enhancers	Esophagus	oesophagus
12	chr2:191023400-191024000	Enhancers	Left Ventricle	heart
13	chr2:191023400-191024000	Enhancers	HepG2	liver
14	chr2:191023400-191024200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:191023400-191024200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:191023400-191024200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:191023400-191024400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:191023400-191024400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:191023400-191024400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:191023400-191024400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:191023400-191024400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:191023400-191024400	Enhancers	Brain Angular Gyrus	brain
23	chr2:191023400-191024400	Enhancers	Colonic Mucosa	Colon
24	chr2:191023400-191024400	Enhancers	Right Atrium	heart
25	chr2:191023400-191024600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:191023400-191024600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:191023400-191024600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:191023400-191024800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:191023400-191025400	Enhancers	Brain Hippocampus Middle	brain
30	chr2:191023600-191024400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:191023600-191024400	Enhancers	Fetal Muscle Leg	muscle
32	chr2:191023600-191024400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:191023600-191025400	Enhancers	Adipose Nuclei	Adipose
34	chr2:191023600-191026800	Enhancers	Osteobl	bone
35	chr2:191023800-191024000	Active TSS	Rectal Smooth Muscle	rectum
36	chr2:191023800-191024200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr2:191023800-191024400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:191023800-191025400	Enhancers	NHDF-Ad	bronchial

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