Variant report

Variant	rs10198599
Chromosome Location	chr2:205920351-205920352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10187682	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207227	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677135	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389161	1.00[ASN][1000 genomes]
rs13389502	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395282	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414808	1.00[ASN][1000 genomes]
rs13417895	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13418029	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13419302	1.00[ASN][1000 genomes]
rs1355342	1.00[ASN][1000 genomes]
rs1434157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060399	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28474701	1.00[ASN][1000 genomes]
rs6716363	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731783	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761835	1.00[ASN][1000 genomes]
rs73053146	1.00[ASN][1000 genomes]
rs7566341	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593901	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs985164	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv215415	chr2:205919161-205921637	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205899800-205920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:205900400-205920600	Weak transcription	Aorta	Aorta
3	chr2:205912600-205924600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:205913200-205920600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:205913400-205920600	Weak transcription	HSMM	muscle
6	chr2:205916800-205920800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:205917400-205921400	Enhancers	Fetal Heart	heart
8	chr2:205918800-205920600	Weak transcription	HSMMtube	muscle
9	chr2:205919400-205920600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:205919400-205920600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:205919400-205921200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:205919600-205920600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:205919600-205920600	Enhancers	Colon Smooth Muscle	Colon
14	chr2:205919600-205924600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:205919800-205920400	Weak transcription	NHLF	lung
16	chr2:205919800-205920600	Weak transcription	Fetal Stomach	stomach
17	chr2:205919800-205920600	Weak transcription	Ovary	ovary
18	chr2:205919800-205923600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:205920000-205920400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:205920000-205920400	Weak transcription	Fetal Lung	lung
21	chr2:205920200-205920400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:205920200-205920600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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