Variant report

Variant	rs10785536
Chromosome Location	chr12:45227302-45227303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10161447	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506258	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10785535	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10785537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785538	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10785540	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182754	0.82[EUR][1000 genomes]
rs11504491	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11524561	0.88[AMR][1000 genomes]
rs11833874	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227370	0.95[EUR][1000 genomes]
rs12316579	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818329	0.89[EUR][1000 genomes]
rs1376126	0.92[CEU][hapmap];0.84[AMR][1000 genomes]
rs1395397	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506679	0.85[CEU][hapmap]
rs1605296	0.91[CEU][hapmap];0.87[CHB][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1605297	0.92[CEU][hapmap];0.89[CHB][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1605298	0.92[CEU][hapmap];0.89[CHB][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17095127	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857927	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876241	0.83[AMR][1000 genomes]
rs2055675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055677	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258058	0.88[AMR][1000 genomes]
rs2408083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408084	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2408085	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2465109	0.91[AMR][1000 genomes]
rs2465110	0.82[AMR][1000 genomes]
rs2658948	0.83[CEU][hapmap]
rs2658951	0.86[AMR][1000 genomes]
rs2658954	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2658957	0.92[CEU][hapmap];0.88[CHB][hapmap];0.91[AMR][1000 genomes]
rs2658959	0.88[AMR][1000 genomes]
rs2658965	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2658966	0.92[CHB][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2710453	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710457	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2710459	0.91[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2710460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2710461	0.91[AMR][1000 genomes]
rs2710462	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238095	0.91[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes]
rs4300447	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4499065	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768075	0.91[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes]
rs4768577	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768578	0.83[EUR][1000 genomes]
rs55741117	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56892258	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57190502	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs74079970	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7957160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960817	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7971834	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7973268	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975618	0.82[EUR][1000 genomes]
rs7976293	1.00[JPT][hapmap]
rs884259	0.92[CEU][hapmap];0.89[CHB][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs884260	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs978696	0.82[CHB][hapmap];1.00[JPT][hapmap]

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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45211600-45227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45220200-45227800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:45220200-45229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:45220600-45242000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:45221800-45228000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr12:45221800-45229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:45221800-45242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:45222400-45227800	Enhancers	Primary T cells from cord blood	blood
10	chr12:45223200-45229400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:45224000-45228000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:45224800-45228400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:45224800-45229000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:45225200-45227400	Weak transcription	Fetal Brain Female	brain
15	chr12:45225200-45229000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:45225200-45231400	Enhancers	Fetal Intestine Small	intestine
17	chr12:45225400-45227600	Enhancers	Fetal Intestine Large	intestine
18	chr12:45226000-45227400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:45226200-45227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:45226200-45230600	Enhancers	Fetal Brain Male	brain
21	chr12:45226600-45228800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:45226800-45230000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:45227200-45227600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:45227200-45227800	Active TSS	Duodenum Mucosa	Duodenum
25	chr12:45227200-45227800	Active TSS	Rectal Mucosa Donor 29	rectum

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