Variant report

Variant	rs12538260
Chromosome Location	chr7:40801477-40801478
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	chr7:40800254..40802241-chr7:40803757..40805437,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1013575	1.00[EUR][1000 genomes]
rs1013576	1.00[EUR][1000 genomes]
rs10486815	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981180	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531154	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531482	1.00[EUR][1000 genomes]
rs12531846	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12532716	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532916	1.00[EUR][1000 genomes]
rs12534713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534734	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538963	1.00[EUR][1000 genomes]
rs12539159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540807	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171765	1.00[EUR][1000 genomes]
rs17171779	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17714132	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714215	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714523	1.00[EUR][1000 genomes]
rs17770820	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921751	1.00[EUR][1000 genomes]
rs1990190	1.00[EUR][1000 genomes]
rs2302027	1.00[EUR][1000 genomes]
rs35105954	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720372	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4720374	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4720375	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720376	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720382	1.00[EUR][1000 genomes]
rs4720383	1.00[EUR][1000 genomes]
rs4723975	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4723981	1.00[EUR][1000 genomes]
rs723837	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7781779	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7794957	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40787800-40802800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:40789400-40802800	Weak transcription	Aorta	Aorta
3	chr7:40790000-40802800	Weak transcription	HSMM	muscle
4	chr7:40790000-40802800	Weak transcription	HSMMtube	muscle
5	chr7:40797200-40801600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:40798200-40809400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:40798800-40803400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:40799600-40802200	Enhancers	Brain Anterior Caudate	brain
9	chr7:40799600-40802400	Enhancers	Brain Substantia Nigra	brain
10	chr7:40799800-40804600	Enhancers	Fetal Lung	lung
11	chr7:40800000-40801600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:40800000-40801800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:40800600-40802600	Enhancers	Brain Hippocampus Middle	brain
14	chr7:40800800-40802000	Enhancers	HepG2	liver
15	chr7:40800800-40802800	Weak transcription	NHLF	lung
16	chr7:40801000-40801800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:40801000-40802000	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:40801000-40803200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:40801000-40803200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:40801000-40808200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:40801200-40801600	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:40801200-40805200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:40801400-40801800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:40801400-40801800	Enhancers	Fetal Muscle Leg	muscle
25	chr7:40801400-40803000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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