Variant report

Variant	rs11757993
Chromosome Location	chr6:80222804-80222805
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:80215719..80218658-chr6:80221222..80223898,3	K562	blood:
2	chr6:80221232..80224610-chr6:80224901..80227580,3	K562	blood:
3	chr6:80212286..80214570-chr6:80222627..80224495,2	K562	blood:
4	chr6:80211479..80218062-chr6:80218996..80224127,6	K562	blood:
5	chr6:80220196..80223373-chr6:80227964..80230707,4	K562	blood:
6	chr6:80218148..80219970-chr6:80220759..80223148,2	K562	blood:
7	chr6:80221232..80223663-chr6:80223749..80226401,2	K562	blood:

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LCA5	hsa-miR-132-3p	chr6:80222799-80222819

Variant related genes	Relation type
LCA5	miRNA target site

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11753205	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11756302	0.87[AMR][1000 genomes]
rs11756486	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11758791	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1472729	0.85[JPT][hapmap]
rs16879583	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16890791	0.95[CHB][hapmap]
rs16890821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890842	0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16890846	0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1875845	0.81[CHB][hapmap]
rs2047897	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2069304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2629469	0.81[ASN][1000 genomes]
rs2655689	0.85[JPT][hapmap]
rs2803172	0.82[AMR][1000 genomes]
rs34068461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35548514	0.83[ASN][1000 genomes]
rs4706790	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4706791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4706792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55697211	0.84[AMR][1000 genomes]
rs55951062	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56311322	0.83[AMR][1000 genomes]
rs72899927	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72899942	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72899955	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72899963	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72901812	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72901839	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7742272	0.85[CHB][hapmap]
rs7743617	0.87[AMR][1000 genomes]
rs7755562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7771276	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7774418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7775536	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs9443675	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9448731	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9448733	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9448738	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	esv1798451	chr6:80222511-80234343	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80171600-80226600	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:80179800-80235000	Weak transcription	HSMMtube	muscle
3	chr6:80189600-80225200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:80190200-80234400	Weak transcription	Fetal Intestine Large	intestine
5	chr6:80192400-80223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:80192400-80226800	Weak transcription	Brain Anterior Caudate	brain
7	chr6:80194800-80225400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:80195400-80235000	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:80197400-80224200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:80198400-80235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:80199000-80235000	Weak transcription	Adipose Nuclei	Adipose
12	chr6:80207600-80246000	Weak transcription	Ovary	ovary
13	chr6:80209000-80235000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:80212400-80232600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:80213000-80224400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:80214400-80235000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:80214600-80246000	Weak transcription	Fetal Stomach	stomach
18	chr6:80215200-80229600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:80216000-80236800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:80216400-80235000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:80216400-80235000	Weak transcription	NH-A	brain
22	chr6:80217600-80224000	Weak transcription	Brain Germinal Matrix	brain
23	chr6:80217600-80235000	Weak transcription	Pancreas	Pancrea
24	chr6:80217800-80223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:80217800-80227200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:80217800-80246000	Weak transcription	Aorta	Aorta
27	chr6:80218200-80244000	Weak transcription	Fetal Brain Female	brain
28	chr6:80218400-80228000	Weak transcription	K562	blood
29	chr6:80218400-80233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:80219000-80235400	Weak transcription	Fetal Heart	heart
31	chr6:80220200-80223800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:80220400-80230200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:80221400-80235600	Weak transcription	Fetal Kidney	kidney
34	chr6:80221800-80223000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:80221800-80234400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:80222000-80223000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:80222000-80224200	Strong transcription	Left Ventricle	heart
38	chr6:80222000-80225200	Weak transcription	Psoas Muscle	Psoas
39	chr6:80222000-80227400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:80222400-80223400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:80222400-80223400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:80222400-80223600	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr6:80222400-80235200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:80222800-80223000	Enhancers	Brain Substantia Nigra	brain
45	chr6:80222800-80223400	Strong transcription	HSMM	muscle
46	chr6:80222800-80223600	Enhancers	Fetal Lung	lung

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