Variant report

Variant	rs7313593
Chromosome Location	chr12:4938930-4938931
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10849145	1.00[JPT][hapmap]
rs10849146	0.85[EUR][1000 genomes]
rs10849147	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10849149	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10849153	1.00[JPT][hapmap]
rs11063358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11063359	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12366826	1.00[JPT][hapmap]
rs17702562	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61907137	0.84[AFR][1000 genomes]
rs61907139	0.84[EUR][1000 genomes]
rs61907144	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61908768	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489569	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489570	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489571	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489572	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489573	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489576	1.00[JPT][hapmap]
rs7310191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963542	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520570	chr12:4929787-4954591	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1047238	chr12:4929787-4955435	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4926400-4939000	Weak transcription	Spleen	Spleen
2	chr12:4929000-4939200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:4929200-4966600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:4929400-4966600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:4930800-4942400	Weak transcription	Fetal Brain Male	brain
6	chr12:4934000-4939000	Enhancers	Primary T cells from cord blood	blood
7	chr12:4934000-4940000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:4934000-4942400	Weak transcription	HSMM	muscle
9	chr12:4934200-4939000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:4934200-4939800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:4935800-4965000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:4937000-4939600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr12:4937400-4940200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:4937400-4940400	Flanking Active TSS	Dnd41	blood
15	chr12:4937600-4939400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr12:4937600-4939400	Flanking Active TSS	GM12878-XiMat	blood
17	chr12:4937600-4939800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr12:4937600-4940200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:4937600-4940200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:4937800-4939200	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr12:4937800-4939200	Flanking Active TSS	Fetal Thymus	thymus
22	chr12:4937800-4939800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:4938200-4939400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:4938400-4939200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr12:4938400-4939200	Flanking Active TSS	Thymus	Thymus
26	chr12:4938400-4939400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr12:4938400-4939600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:4938400-4939600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:4938400-4940600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr12:4938600-4939000	Active TSS	Primary T cells fromperipheralblood	blood
31	chr12:4938600-4939000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:4938600-4939400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:4938600-4939400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr12:4938600-4939400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:4938600-4940800	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:4938600-4960200	Weak transcription	Fetal Brain Female	brain
37	chr12:4938800-4939000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr12:4938800-4939200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr12:4938800-4939200	Genic enhancers	Brain Germinal Matrix	brain
40	chr12:4938800-4939400	Enhancers	Fetal Stomach	stomach

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