Variant report

Variant	rs11991292
Chromosome Location	chr8:129862135-129862136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:129855829..129857601-chr8:129861654..129864302,2	MCF-7	breast:
2	chr4:116843676..116845196-chr8:129860321..129863005,2	MCF-7	breast:
3	chr8:129861118..129862963-chr8:129865839..129868302,2	MCF-7	breast:
4	chr8:129858879..129861538-chr8:129862120..129864287,2	MCF-7	breast:
5	chr8:129860905..129863737-chr8:129866151..129867802,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1157136	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11780321	0.85[AFR][1000 genomes]
rs11781488	0.84[AFR][1000 genomes]
rs11783808	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11786024	0.80[ASN][1000 genomes]
rs11989880	0.94[AFR][1000 genomes]
rs16903635	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17818958	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1879163	0.88[AFR][1000 genomes]
rs1879164	0.88[AFR][1000 genomes]
rs2139456	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3857888	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4645529	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs58858133	0.86[AFR][1000 genomes]
rs59067049	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6996393	0.82[AFR][1000 genomes]
rs72726589	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72726590	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643240	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612214	chr8:129851646-129862252	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv3480628	chr8:129859165-129862551	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3480629	chr8:129859165-129862551	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv19677	chr8:129859328-129862377	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv612219	chr8:129859924-129862252	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv612220	chr8:129859924-129866274	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv517445	chr8:129859924-129881299	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv612222	chr8:129860008-129862252	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129843800-129863600	Weak transcription	Dnd41	blood
2	chr8:129857400-129863400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:129858000-129862200	Weak transcription	NHEK	skin
4	chr8:129858200-129862200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:129858200-129862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:129858200-129862400	Weak transcription	NHLF	lung
7	chr8:129858400-129862400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:129858400-129862400	Weak transcription	HMEC	breast
9	chr8:129858600-129862200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:129858600-129868800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:129858800-129862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:129859000-129862400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:129859000-129862600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:129859000-129863400	Weak transcription	Osteobl	bone
15	chr8:129859400-129862400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:129859400-129862400	Weak transcription	HSMM	muscle
17	chr8:129860000-129867000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:129861200-129867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:129861800-129864600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:129862000-129862400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:129862000-129864400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:129862000-129864400	Enhancers	NHDF-Ad	bronchial

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