Variant report

Variant	rs12734711
Chromosome Location	chr1:84607974-84607975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84606589..84609383-chr1:85086485..85089260,2	MCF-7	breast:
2	chr1:84545204..84547427-chr1:84607809..84609728,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11163870	0.81[ASN][1000 genomes]
rs12094835	0.81[ASN][1000 genomes]
rs12129674	0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12563929	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12567738	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1521519	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17130873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17475438	0.81[ASN][1000 genomes]
rs34654680	0.93[ASN][1000 genomes]
rs34880060	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34972329	0.93[ASN][1000 genomes]
rs35000319	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs35105659	0.93[ASN][1000 genomes]
rs35760860	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35960022	0.93[ASN][1000 genomes]
rs41300540	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57443421	0.81[ASN][1000 genomes]
rs60455471	0.84[ASN][1000 genomes]
rs61360062	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61766872	0.81[ASN][1000 genomes]
rs6699590	0.84[ASN][1000 genomes]
rs71652665	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71652666	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71652667	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72721436	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84584000-84609600	Weak transcription	HSMM	muscle
2	chr1:84584000-84609800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:84588000-84618400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:84596800-84609000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:84601400-84608600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:84601400-84608800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:84606800-84609400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:84607000-84609000	Enhancers	Primary T cells from cord blood	blood
9	chr1:84607000-84613600	Weak transcription	Brain Angular Gyrus	brain
10	chr1:84607200-84609600	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:84607200-84609600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:84607200-84609600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:84607200-84609800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:84607200-84609800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:84607200-84609800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:84607400-84608000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:84607400-84608200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:84607400-84608200	Enhancers	A549	lung
19	chr1:84607400-84609400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:84607400-84609600	Enhancers	HUVEC	blood vessel
21	chr1:84607400-84610000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:84607600-84608800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:84607600-84609000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:84607600-84609400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:84607600-84609800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:84607800-84608800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:84607800-84610000	Weak transcription	Liver	Liver

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