Variant report

Variant	rs7306746
Chromosome Location	chr12:51709282-51709283
allele	C/T
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:23)

rs_ID	r²[population]
rs10516	0.85[EUR][1000 genomes]
rs10876162	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169795	0.86[EUR][1000 genomes]
rs11169805	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11616158	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12310910	0.82[AMR][1000 genomes]
rs12582273	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12829179	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12830766	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12831721	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17860300	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17860301	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17860343	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3858624	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57941347	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61022955	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68042460	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7133606	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7299306	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7299453	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7959814	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7964134	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9651999	0.93[AMR][1000 genomes];0.87[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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51681800-51714200	Weak transcription	Gastric	stomach
2	chr12:51696600-51712400	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr12:51698400-51712600	Weak transcription	Spleen	Spleen
4	chr12:51699200-51709400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:51699800-51710000	Strong transcription	Fetal Thymus	thymus
6	chr12:51700600-51711000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:51702200-51712400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:51702400-51709600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:51702400-51712200	Weak transcription	GM12878-XiMat	blood
10	chr12:51702800-51712200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:51703200-51709800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:51703400-51711200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:51703400-51711200	Weak transcription	Placenta	Placenta
14	chr12:51704000-51712200	Weak transcription	Stomach Mucosa	stomach
15	chr12:51704400-51712200	Weak transcription	A549	lung
16	chr12:51704600-51712600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:51706600-51709400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:51706800-51709600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:51707400-51712400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:51707600-51709400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:51707600-51709600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:51707600-51712600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:51707800-51709400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:51707800-51709600	Weak transcription	Primary B cells from cord blood	blood
25	chr12:51707800-51709800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:51707800-51712600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr12:51708000-51709600	Weak transcription	Thymus	Thymus
28	chr12:51708200-51712200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:51708400-51712600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr12:51708600-51711800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:51708800-51709400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:51708800-51712400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:51708800-51716600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:51709000-51710000	Enhancers	K562	blood
35	chr12:51709200-51709600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:51709200-51709800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:51709200-51710000	Genic enhancers	Primary T cells from cord blood	blood

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