Variant report

Variant	rs6891719
Chromosome Location	chr5:95191922-95191923
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	chr5:95187602..95189431-chr5:95191166..95193314,2	K562	blood:
2	chr5:95191104..95193650-chr5:95201052..95202970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236882	Chromatin interaction
ENSG00000251409	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11135439	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs154447	1.00[CHB][hapmap]
rs17085164	1.00[ASN][1000 genomes]
rs17463444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17463911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464446	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs248339	1.00[CHB][hapmap]
rs248342	1.00[CHB][hapmap]
rs257683	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28926194	1.00[ASN][1000 genomes]
rs35129919	1.00[ASN][1000 genomes]
rs60575087	1.00[ASN][1000 genomes]
rs6556889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95177800-95192200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
3	chr5:95182800-95192200	Weak transcription	Esophagus	oesophagus
4	chr5:95185000-95192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:95185000-95193000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:95185200-95192400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:95186400-95194200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:95186600-95192200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:95186600-95192200	Weak transcription	Lung	lung
10	chr5:95186600-95192200	Weak transcription	Ovary	ovary
11	chr5:95186600-95192800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:95186800-95192000	Active TSS	Liver	Liver
13	chr5:95186800-95192200	Weak transcription	Adipose Nuclei	Adipose
14	chr5:95186800-95192200	Weak transcription	HepG2	liver
15	chr5:95188400-95195600	Enhancers	Fetal Heart	heart
16	chr5:95188600-95194400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:95188800-95192200	Weak transcription	Pancreas	Pancrea
18	chr5:95188800-95192800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:95188800-95193000	Weak transcription	Stomach Mucosa	stomach
20	chr5:95189400-95192200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:95189400-95193400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:95189600-95192200	Weak transcription	Left Ventricle	heart
23	chr5:95189800-95192200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:95190200-95192200	Weak transcription	Right Atrium	heart
25	chr5:95190600-95192000	Weak transcription	Fetal Kidney	kidney
26	chr5:95191000-95194200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:95191000-95194200	Enhancers	Brain Hippocampus Middle	brain
28	chr5:95191000-95194200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:95191000-95194200	Enhancers	Brain Substantia Nigra	brain
30	chr5:95191000-95194400	Enhancers	Brain Angular Gyrus	brain
31	chr5:95191200-95192400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:95191200-95193200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:95191200-95193400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:95191200-95194200	Enhancers	Brain Anterior Caudate	brain
35	chr5:95191200-95194200	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:95191200-95194200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:95191400-95192200	Weak transcription	Psoas Muscle	Psoas
38	chr5:95191600-95192000	Weak transcription	Placenta	Placenta
39	chr5:95191800-95193600	Enhancers	Right Ventricle	heart
40	chr5:95191800-95194000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:95191800-95194400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr5:95191800-95195800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:95191800-95195800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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