Variant report

Variant	rs7973268
Chromosome Location	chr12:45228324-45228325
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45228113..45230766-chr12:45231414..45233959,2	K562	blood:
2	chr12:45228200..45231167-chr12:45235682..45238420,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10161447	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10506258	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10785535	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10785536	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10785537	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10785538	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10785540	0.85[EUR][1000 genomes]
rs11182754	0.82[EUR][1000 genomes]
rs11504491	0.95[EUR][1000 genomes]
rs11833874	0.95[EUR][1000 genomes]
rs12227370	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12316579	0.97[EUR][1000 genomes]
rs12818329	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1376126	0.90[AMR][1000 genomes]
rs1395397	0.82[EUR][1000 genomes]
rs1506679	0.85[AMR][1000 genomes]
rs1506680	0.85[AMR][1000 genomes]
rs1605296	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1605297	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1605298	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17095127	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1857927	0.82[EUR][1000 genomes]
rs1876241	0.91[AMR][1000 genomes]
rs2055675	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2055676	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2055677	0.82[EUR][1000 genomes]
rs2258058	0.80[AMR][1000 genomes]
rs2408083	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2408084	0.82[MEX][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2408085	0.82[MEX][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465108	0.85[AMR][1000 genomes]
rs2465109	0.80[AMR][1000 genomes]
rs2465110	0.90[AMR][1000 genomes]
rs2658948	0.85[AMR][1000 genomes]
rs2658954	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2658957	0.80[AMR][1000 genomes]
rs2658965	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2658966	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2710453	0.82[EUR][1000 genomes]
rs2710455	0.97[EUR][1000 genomes]
rs2710457	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2710459	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2710460	0.97[EUR][1000 genomes]
rs2710461	0.80[AMR][1000 genomes]
rs2710462	0.95[EUR][1000 genomes]
rs4238095	0.80[AMR][1000 genomes]
rs4300447	0.85[EUR][1000 genomes]
rs4415832	0.88[EUR][1000 genomes]
rs4499065	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768075	0.80[AMR][1000 genomes]
rs4768577	0.97[EUR][1000 genomes]
rs4768578	0.83[EUR][1000 genomes]
rs55741117	0.82[EUR][1000 genomes]
rs56892258	0.95[EUR][1000 genomes]
rs57190502	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312377	0.83[AMR][1000 genomes]
rs74079970	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7957052	0.95[EUR][1000 genomes]
rs7957160	0.95[EUR][1000 genomes]
rs7971834	0.95[EUR][1000 genomes]
rs7975618	0.82[EUR][1000 genomes]
rs884259	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs884260	0.80[AMR][1000 genomes];0.81[EUR][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	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
5	nsv983317	chr12:45228308-45229655	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	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	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45220200-45229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:45220600-45242000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45221800-45229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:45221800-45242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:45223200-45229400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:45224800-45228400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:45224800-45229000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:45225200-45229000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:45225200-45231400	Enhancers	Fetal Intestine Small	intestine
11	chr12:45226200-45230600	Enhancers	Fetal Brain Male	brain
12	chr12:45226600-45228800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:45226800-45230000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:45227400-45230800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:45227600-45228800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:45227800-45228800	Weak transcription	Primary T cells from cord blood	blood
17	chr12:45227800-45228800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:45227800-45229000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:45227800-45229000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:45227800-45230400	Enhancers	Fetal Brain Female	brain
21	chr12:45228000-45229000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:45228000-45229000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:45228000-45229600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:45228000-45231200	Enhancers	Fetal Intestine Large	intestine
25	chr12:45228000-45231400	Enhancers	Duodenum Mucosa	Duodenum

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