Variant report

Variant	rs1512262
Chromosome Location	chr9:100509800-100509801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:47360676..47363617-chr9:100509407..100511558,2	MCF-7	breast:
2	chr9:100508324..100510279-chr9:100516593..100518821,3	K562	blood:
3	chr9:100498773..100502226-chr9:100506540..100509849,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1512263	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924016	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924040	0.88[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16924042	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs16924053	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57489136	0.98[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs59320519	0.93[EUR][1000 genomes]
rs60789150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60847735	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73484450	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73484452	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73484459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73484460	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73484463	0.93[EUR][1000 genomes]
rs73484465	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73484466	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73484469	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73484472	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[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	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv614934	chr9:100482976-100550253	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100504000-100514000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:100507200-100513600	Enhancers	Fetal Intestine Small	intestine
3	chr9:100508000-100509800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:100509000-100509800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr9:100509000-100511000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:100509000-100513200	Enhancers	Fetal Intestine Large	intestine
7	chr9:100509200-100510600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:100509200-100511000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:100509400-100509800	Enhancers	Gastric	stomach
10	chr9:100509400-100510200	Enhancers	HepG2	liver
11	chr9:100509400-100510400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:100509400-100511200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:100509400-100511400	Enhancers	HSMMtube	muscle
14	chr9:100509400-100511600	Enhancers	Adipose Nuclei	Adipose
15	chr9:100509600-100509800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:100509600-100510000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr9:100509600-100510000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:100509600-100510000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:100509600-100510200	Enhancers	Small Intestine	intestine
20	chr9:100509600-100510200	Enhancers	Stomach Mucosa	stomach
21	chr9:100509600-100510400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:100509600-100510600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:100509600-100510600	Enhancers	HSMM	muscle
24	chr9:100509600-100511000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:100509600-100511000	Enhancers	Esophagus	oesophagus
26	chr9:100509600-100511200	Enhancers	Placenta	Placenta
27	chr9:100509800-100510000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:100509800-100510000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr9:100509800-100510000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:100509800-100510000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:100509800-100510000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr9:100509800-100510000	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr9:100509800-100510000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr9:100509800-100510200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:100509800-100510600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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