Variant report

Variant	rs2204853
Chromosome Location	chr2:213316826-213316827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10153722	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10165364	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10172512	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10178298	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10178687	0.88[CEU][hapmap]
rs10180614	0.88[CEU][hapmap]
rs10190653	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10193290	0.81[CEU][hapmap];0.86[GIH][hapmap]
rs10196652	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10497976	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11689233	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11695241	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs13382605	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13387495	0.81[CEU][hapmap];0.86[GIH][hapmap]
rs13388843	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13392407	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13394464	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13401008	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13411815	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13420607	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13422427	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1384291	0.88[CEU][hapmap]
rs1482381	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs1505348	0.81[CEU][hapmap]
rs1505349	0.81[CEU][hapmap];0.86[GIH][hapmap]
rs1552161	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1586045	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16848611	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16848707	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16848787	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17260933	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17325381	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1813049	0.95[EUR][1000 genomes]
rs1813050	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1882352	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921630	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1997470	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2086612	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2101151	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57473409	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57921759	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6710782	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs6715328	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs6733009	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7564771	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs7568763	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9283525	0.88[CEU][hapmap]
rs972488	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs972489	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9808433	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs999946	1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][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	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv875811	chr2:213200920-213347104	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213312200-213320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213315800-213317200	Enhancers	NHEK	skin
3	chr2:213315800-213317400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:213316200-213317000	Enhancers	Fetal Kidney	kidney
5	chr2:213316400-213317000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:213316400-213317000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:213316400-213317000	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:213316400-213317000	Enhancers	Brain Substantia Nigra	brain
9	chr2:213316400-213317000	Enhancers	HMEC	breast
10	chr2:213316400-213317000	Enhancers	HSMMtube	muscle
11	chr2:213316400-213317200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:213316400-213317200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:213316400-213317200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:213316400-213317200	Enhancers	NHDF-Ad	bronchial
15	chr2:213316600-213317000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:213316600-213317000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:213316600-213317000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:213316600-213317000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:213316600-213317000	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:213316600-213317000	Enhancers	Hela-S3	cervix
21	chr2:213316600-213317200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:213316600-213318200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:213316600-213318200	Enhancers	HepG2	liver
24	chr2:213316800-213317000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:213316800-213317000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:213316800-213317200	Active TSS	Fetal Heart	heart

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