Variant report

Variant	rs3782743
Chromosome Location	chr12:4870894-4870895
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4864992..4867674-chr12:4869599..4872090,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10431361	0.83[EUR][1000 genomes]
rs10431362	0.80[EUR][1000 genomes]
rs10744660	0.86[CHB][hapmap];0.96[JPT][hapmap]
rs10774267	0.84[EUR][1000 genomes]
rs10849134	0.82[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs10849138	0.86[YRI][hapmap];0.82[EUR][1000 genomes]
rs10849139	0.96[YRI][hapmap]
rs11063319	0.86[CHB][hapmap];0.96[JPT][hapmap];0.81[ASN][1000 genomes]
rs11063323	1.00[CHB][hapmap];0.96[JPT][hapmap];0.91[ASN][1000 genomes]
rs11063327	0.82[EUR][1000 genomes]
rs11063328	0.82[EUR][1000 genomes]
rs12312983	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12422704	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1860347	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2018895	0.85[EUR][1000 genomes]
rs2286581	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs2286582	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs4766284	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4766285	0.82[ASN][1000 genomes]
rs6489564	0.86[CHB][hapmap];0.96[JPT][hapmap];0.82[ASN][1000 genomes]
rs7132150	0.86[CHB][hapmap];0.96[JPT][hapmap];0.89[ASN][1000 genomes]
rs7295230	0.83[EUR][1000 genomes]
rs7295251	0.83[EUR][1000 genomes]
rs7311675	0.88[YRI][hapmap];0.83[EUR][1000 genomes]
rs7311694	0.83[EUR][1000 genomes]
rs7314849	0.83[EUR][1000 genomes]
rs7315211	0.86[YRI][hapmap];0.83[EUR][1000 genomes]
rs766504	0.85[EUR][1000 genomes]
rs766505	0.85[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs7953399	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7953482	0.82[EUR][1000 genomes]
rs7967117	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs7970126	0.82[EUR][1000 genomes]
rs7973527	0.84[EUR][1000 genomes]
rs7976219	0.84[EUR][1000 genomes]
rs7979891	0.89[ASN][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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4836400-4872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:4845000-4872600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:4852400-4872400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:4854200-4876000	Weak transcription	Fetal Brain Male	brain
5	chr12:4864600-4872200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:4867200-4880200	Weak transcription	Spleen	Spleen
7	chr12:4867400-4872600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:4867600-4872400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:4867800-4872200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:4868200-4874400	Weak transcription	Left Ventricle	heart
11	chr12:4868800-4874600	Weak transcription	Right Ventricle	heart
12	chr12:4869000-4875400	Weak transcription	Fetal Stomach	stomach
13	chr12:4869600-4873600	Strong transcription	Brain Germinal Matrix	brain
14	chr12:4869600-4875600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:4869800-4884200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:4870200-4871000	Strong transcription	Fetal Brain Female	brain
17	chr12:4870200-4871200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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