Variant report

Variant	rs72987891
Chromosome Location	chr6:131371207-131371208
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	chr6:131370012..131372653-chr6:131373371..131376105,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11154614	0.92[ASN][1000 genomes]
rs11961521	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11969461	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12527232	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12665101	0.89[ASN][1000 genomes]
rs12665208	0.81[ASN][1000 genomes]
rs13192526	0.81[ASN][1000 genomes]
rs13207929	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13208091	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13209830	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332492	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1338906	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17180547	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1855078	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1977744	0.94[ASN][1000 genomes]
rs34445705	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34863373	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35273150	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66491359	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6908768	0.94[ASN][1000 genomes]
rs6923182	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72987859	1.00[ASN][1000 genomes]
rs72989827	0.92[ASN][1000 genomes]
rs72989829	0.92[ASN][1000 genomes]
rs7743764	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745206	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9483209	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9492784	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492785	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492799	0.88[AMR][1000 genomes];0.91[EUR][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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131346000-131375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:131351400-131375000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:131351600-131374600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:131352400-131374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:131356600-131375000	Weak transcription	Brain Angular Gyrus	brain
6	chr6:131359000-131374800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:131360800-131374800	Weak transcription	HSMM	muscle
8	chr6:131360800-131375000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:131361400-131373800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:131363800-131371400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:131364000-131372200	Weak transcription	NHLF	lung
12	chr6:131364400-131372600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:131364400-131374600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:131367800-131374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:131368000-131372600	Weak transcription	HepG2	liver
16	chr6:131368200-131374800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:131368200-131375200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:131369200-131372600	Weak transcription	Ovary	ovary
19	chr6:131369600-131372200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:131369600-131372400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:131369600-131372800	Enhancers	NHDF-Ad	bronchial
22	chr6:131370000-131372200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:131370400-131372600	Enhancers	Osteobl	bone
24	chr6:131370400-131373600	Weak transcription	Fetal Lung	lung
25	chr6:131370400-131374600	Weak transcription	Brain Anterior Caudate	brain
26	chr6:131370600-131371800	Enhancers	Colon Smooth Muscle	Colon
27	chr6:131370600-131372400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:131370600-131374600	Weak transcription	A549	lung
29	chr6:131370800-131372400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:131371000-131374600	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:131371000-131375000	Weak transcription	Brain Substantia Nigra	brain
32	chr6:131371200-131371600	Enhancers	Adipose Nuclei	Adipose
33	chr6:131371200-131372600	Weak transcription	Psoas Muscle	Psoas
34	chr6:131371200-131374200	Weak transcription	Fetal Stomach	stomach
35	chr6:131371200-131374600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:131371200-131374800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:131371200-131374800	Weak transcription	Brain Inferior Temporal Lobe	brain

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