Variant report

Variant	rs6683714
Chromosome Location	chr1:158059417-158059418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2317881	1.00[AMR][1000 genomes]
rs58201896	1.00[AMR][1000 genomes]
rs60150627	1.00[AMR][1000 genomes]
rs73014155	1.00[AMR][1000 genomes]
rs73021906	1.00[AMR][1000 genomes]
rs73021929	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1005196	chr1:158015996-158065522	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv523208	chr1:158022217-158088687	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1003592	chr1:158024499-158061043	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158036800-158063600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:158037600-158067400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:158040000-158071800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:158041200-158067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:158041800-158068800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:158042200-158067400	Strong transcription	Placenta	Placenta
7	chr1:158043000-158061600	Strong transcription	NHEK	skin
8	chr1:158045400-158061200	Weak transcription	Gastric	stomach
9	chr1:158045400-158068800	Strong transcription	Fetal Stomach	stomach
10	chr1:158046200-158068600	Strong transcription	Osteobl	bone
11	chr1:158046400-158063400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:158046400-158065800	Strong transcription	Adipose Nuclei	Adipose
13	chr1:158046400-158067400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:158046400-158068800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:158046600-158067000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:158046800-158062600	Weak transcription	Fetal Heart	heart
17	chr1:158046800-158065400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr1:158046800-158069000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:158047000-158066400	Strong transcription	Fetal Muscle Leg	muscle
20	chr1:158047000-158068400	Strong transcription	NHLF	lung
21	chr1:158047200-158065800	Strong transcription	Ovary	ovary
22	chr1:158047200-158066000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:158047200-158066400	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr1:158047400-158066800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:158047600-158066400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:158047600-158067600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:158048000-158065600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:158048200-158061000	Weak transcription	Esophagus	oesophagus
29	chr1:158048200-158064000	Strong transcription	NH-A	brain
30	chr1:158048400-158067200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:158048400-158071200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:158049000-158067800	Strong transcription	Fetal Brain Female	brain
33	chr1:158049000-158068000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:158049200-158059600	Weak transcription	Fetal Brain Male	brain
35	chr1:158049200-158068600	Strong transcription	HSMM	muscle
36	chr1:158049400-158065600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:158049400-158066200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:158049600-158065000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:158049800-158063800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:158049800-158065200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:158050600-158066200	Strong transcription	Fetal Intestine Large	intestine
42	chr1:158051200-158064800	Strong transcription	Fetal Lung	lung
43	chr1:158051200-158068400	Strong transcription	Fetal Intestine Small	intestine
44	chr1:158051400-158065600	Strong transcription	NHDF-Ad	bronchial
45	chr1:158051800-158061600	Strong transcription	A549	lung
46	chr1:158051800-158065200	Strong transcription	Aorta	Aorta
47	chr1:158052000-158060200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:158052800-158061800	Strong transcription	Thymus	Thymus
49	chr1:158053000-158064600	Strong transcription	Dnd41	blood
50	chr1:158053000-158068400	Weak transcription	Small Intestine	intestine

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