Variant report

Variant	rs985164
Chromosome Location	chr2:205943592-205943593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10187682	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198599	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205931	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207227	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677135	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389161	1.00[ASN][1000 genomes]
rs13389502	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395282	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414808	1.00[ASN][1000 genomes]
rs13417895	1.00[ASN][1000 genomes]
rs13418029	1.00[ASN][1000 genomes]
rs13419302	1.00[ASN][1000 genomes]
rs1355342	1.00[ASN][1000 genomes]
rs1434157	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060399	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28474701	1.00[ASN][1000 genomes]
rs6716363	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716774	0.85[EUR][1000 genomes]
rs6731783	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761835	1.00[ASN][1000 genomes]
rs73053146	1.00[ASN][1000 genomes]
rs7566341	0.98[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	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205921400-205943600	Weak transcription	Aorta	Aorta
2	chr2:205935200-205943600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:205935400-205943800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:205936000-205943600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:205940400-205945400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:205940800-205943800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:205941000-205944400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:205941400-205943600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:205941600-205945800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:205941600-205950600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:205941800-205945600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:205942200-205950800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:205942400-205943600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:205942400-205943600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:205942400-205944200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:205942400-205944400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:205942400-205945600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:205942400-205945800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:205942400-205945800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:205942800-205945800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:205943000-205943600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:205943000-205945600	Enhancers	Primary T cells from cord blood	blood
23	chr2:205943400-205943800	Enhancers	Fetal Thymus	thymus
24	chr2:205943400-205944200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:205943400-205944400	Enhancers	Primary T cells fromperipheralblood	blood

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