Variant report

Variant	rs4768561
Chromosome Location	chr12:44997498-44997499
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10506251	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506252	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182567	0.92[EUR][1000 genomes]
rs11182568	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs11182573	0.92[EUR][1000 genomes]
rs11182575	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs11182578	0.92[EUR][1000 genomes]
rs11182582	0.92[EUR][1000 genomes]
rs11182593	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs11612950	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613236	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615599	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452886	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs17094881	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094886	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094892	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17571971	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572590	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572765	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574492	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17574839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17575480	1.00[ASN][1000 genomes]
rs17649873	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17650849	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17651646	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs17652715	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17653092	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17653542	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17654244	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2408044	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4768061	1.00[ASN][1000 genomes]
rs4768068	0.87[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768069	0.92[EUR][1000 genomes]
rs4768070	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768566	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768570	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs59098139	0.92[EUR][1000 genomes]
rs61671085	0.92[EUR][1000 genomes]
rs6582510	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs6582511	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs6582512	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135950	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296595	1.00[ASN][1000 genomes]
rs7301676	1.00[ASN][1000 genomes]
rs7305652	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282400	1.00[ASN][1000 genomes]
rs73284070	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284080	0.92[EUR][1000 genomes]
rs74081513	0.92[EUR][1000 genomes]
rs7955981	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7957292	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961698	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs7966845	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967221	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974472	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976217	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	chr12:44943400-44998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:44966800-45000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:44977400-44998800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:44986600-45006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:44986800-45015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:44987200-44997600	Weak transcription	Fetal Brain Male	brain
8	chr12:44990400-45004800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:44991600-44997800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:44992000-44999400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:44992200-45006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:44993000-45006800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:44994400-45004200	Weak transcription	Brain Germinal Matrix	brain
14	chr12:44995800-45001400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:44995800-45003000	Weak transcription	Fetal Brain Female	brain
16	chr12:44996800-44998400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:44997000-44999400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:44997400-44998000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:44997400-44998200	Enhancers	Pancreatic Islets	Pancreatic Islet

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