Variant report

Variant	rs17094865
Chromosome Location	chr12:44998603-44998604
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10785513	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11182552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11182562	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12314678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470803	0.99[ASN][1000 genomes]
rs1545496	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17094882	0.88[ASN][1000 genomes]
rs1966856	0.88[ASN][1000 genomes]
rs2060839	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2060842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060895	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2060896	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2060897	0.85[ASN][1000 genomes]
rs2060898	0.85[ASN][1000 genomes]
rs2060899	0.99[ASN][1000 genomes]
rs2218943	0.86[ASN][1000 genomes]
rs4641544	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768067	0.86[ASN][1000 genomes]
rs4768562	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6582508	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582509	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134952	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7304431	0.99[ASN][1000 genomes]
rs765770	0.81[ASN][1000 genomes]
rs7958608	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7966743	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7966744	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	esv2762976	chr12:44969431-45000228	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44940200-44999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:44966800-45000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:44977400-44998800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:44986600-45006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:44986800-45015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:44990400-45004800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:44992000-44999400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:44992200-45006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:44993000-45006800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:44994400-45004200	Weak transcription	Brain Germinal Matrix	brain
11	chr12:44995800-45001400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:44995800-45003000	Weak transcription	Fetal Brain Female	brain
13	chr12:44997000-44999400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:44998000-45005600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:44998200-45024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:44998400-45001600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:44998600-44998800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:44998600-45003000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:44998600-45005000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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