Variant report

Variant	rs12818520
Chromosome Location	chr12:45000786-45000787
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10506253	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs10506254	0.84[JPT][hapmap]
rs10506255	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs11609932	0.84[JPT][hapmap]
rs12231246	1.00[YRI][hapmap]
rs12580824	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs12581256	0.83[JPT][hapmap]
rs12812412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12817968	0.97[ASN][1000 genomes]
rs12818786	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825403	0.84[JPT][hapmap]
rs12827992	0.85[CHD][hapmap];0.84[JPT][hapmap];0.94[LWK][hapmap];0.89[MKK][hapmap]
rs12828039	0.84[JPT][hapmap]
rs1377003	1.00[YRI][hapmap]
rs1450538	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs1452260	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs1452261	0.84[JPT][hapmap]
rs1517205	0.85[CHD][hapmap];0.84[JPT][hapmap];0.88[LWK][hapmap];0.89[MKK][hapmap]
rs17571851	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17572194	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17573382	0.84[JPT][hapmap]
rs17575124	0.84[JPT][hapmap]
rs17575145	0.84[JPT][hapmap]
rs17651444	0.84[JPT][hapmap]
rs17652045	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs17652890	0.84[JPT][hapmap]
rs1869161	0.84[JPT][hapmap]
rs2122530	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs2305449	0.89[CHB][hapmap];0.99[ASN][1000 genomes]
rs34192455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34500282	0.98[ASN][1000 genomes]
rs35889925	0.97[ASN][1000 genomes]
rs4362200	0.84[CHD][hapmap];0.84[JPT][hapmap];0.88[LWK][hapmap]
rs4768560	1.00[YRI][hapmap]
rs55985078	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs61932363	0.98[ASN][1000 genomes]
rs7295695	0.84[JPT][hapmap]
rs7299494	1.00[YRI][hapmap]

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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44986600-45006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:44986800-45015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:44990400-45004800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:44992200-45006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:44993000-45006800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:44994400-45004200	Weak transcription	Brain Germinal Matrix	brain
7	chr12:44995800-45001400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:44995800-45003000	Weak transcription	Fetal Brain Female	brain
9	chr12:44998000-45005600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:44998200-45024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:44998400-45001600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:44998600-45003000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:44998600-45005000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:44998800-45004800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:44998800-45018200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:44999600-45005000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:44999800-45003600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:45000200-45003000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:45000600-45002600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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