Variant report

Variant	rs114426854
Chromosome Location	chr6:80223063-80223064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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:47 , 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	chr6:80217800-80227200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:80217800-80246000	Weak transcription	Aorta	Aorta
26	chr6:80218200-80244000	Weak transcription	Fetal Brain Female	brain
27	chr6:80218400-80228000	Weak transcription	K562	blood
28	chr6:80218400-80233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:80219000-80235400	Weak transcription	Fetal Heart	heart
30	chr6:80220200-80223800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:80220400-80230200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:80221400-80235600	Weak transcription	Fetal Kidney	kidney
33	chr6:80221800-80234400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:80222000-80224200	Strong transcription	Left Ventricle	heart
35	chr6:80222000-80225200	Weak transcription	Psoas Muscle	Psoas
36	chr6:80222000-80227400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:80222400-80223400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:80222400-80223400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:80222400-80223600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr6:80222400-80235200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:80222800-80223400	Strong transcription	HSMM	muscle
42	chr6:80222800-80223600	Enhancers	Fetal Lung	lung
43	chr6:80223000-80223200	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr6:80223000-80223400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:80223000-80223400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:80223000-80223600	Active TSS	HMEC	breast
47	chr6:80223000-80233200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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