Variant report

Variant	rs1880600
Chromosome Location	chr12:47566742-47566743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47564847..47568239-chr12:47568410..47570337,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10785658	0.86[CEU][hapmap]
rs10785660	0.89[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785661	0.87[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10881056	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10881057	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10881058	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183755	0.82[CEU][hapmap]
rs11183769	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183774	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12371765	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12578995	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1357933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1357935	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1525444	0.82[CEU][hapmap]
rs1525453	0.87[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1830054	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1917658	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1949864	0.82[CEU][hapmap]
rs2408714	0.82[CEU][hapmap]
rs4768141	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4768777	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582696	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7135951	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7136496	0.81[AMR][1000 genomes]
rs7295263	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs7297792	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7299627	0.86[EUR][1000 genomes]
rs7311824	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958186	0.86[CEU][hapmap]
rs7958922	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963822	0.82[CEU][hapmap]
rs952968	0.83[YRI][hapmap]
rs9634260	0.82[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv975414	chr12:47565217-47567474	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:47550600-47571800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:47550600-47582400	Weak transcription	Aorta	Aorta
4	chr12:47550800-47570000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:47550800-47570200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:47551200-47583600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:47551400-47567200	Weak transcription	Spleen	Spleen
8	chr12:47554800-47579600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:47555000-47576400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:47556800-47570400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:47557800-47581600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:47558600-47580200	Weak transcription	Primary B cells from cord blood	blood
13	chr12:47558800-47570000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:47558800-47582200	Weak transcription	NH-A	brain
15	chr12:47558800-47582400	Weak transcription	Lung	lung
16	chr12:47559000-47570200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:47559000-47578000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:47559000-47582200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:47559400-47570800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:47560200-47570000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:47560200-47578800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:47561400-47578000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:47565600-47567000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:47566000-47568200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:47566400-47566800	Strong transcription	Primary T cells from cord blood	blood
26	chr12:47566400-47567400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:47566400-47568800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:47566600-47568800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:47566600-47575600	Weak transcription	A549	lung
30	chr12:47566600-47582400	Weak transcription	HSMM	muscle

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