Variant report

Variant	rs6699440
Chromosome Location	chr1:214687099-214687100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6673383	1.00[YRI][hapmap]
rs7535173	1.00[YRI][hapmap]
rs7543838	1.00[YRI][hapmap]

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	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
2	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
3	chr1:214674200-214687200	Weak transcription	HSMMtube	muscle
4	chr1:214677200-214690200	Weak transcription	Small Intestine	intestine
5	chr1:214678200-214687800	Weak transcription	Lung	lung
6	chr1:214679000-214687400	Weak transcription	Ovary	ovary
7	chr1:214679200-214687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:214679600-214687600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:214680800-214687600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:214680800-214687600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:214680800-214687800	Weak transcription	Left Ventricle	heart
12	chr1:214681000-214687200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:214681000-214688000	Weak transcription	Hela-S3	cervix
14	chr1:214681200-214688200	Weak transcription	Fetal Kidney	kidney
15	chr1:214681600-214690200	Weak transcription	Pancreas	Pancrea
16	chr1:214683800-214688000	Weak transcription	Gastric	stomach
17	chr1:214684200-214688000	Weak transcription	HMEC	breast
18	chr1:214684600-214687200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:214684800-214688200	Enhancers	Psoas Muscle	Psoas
20	chr1:214685200-214688400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:214685400-214687600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:214685600-214687800	Weak transcription	Fetal Stomach	stomach
23	chr1:214685600-214688200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:214685800-214687600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:214685800-214687600	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:214685800-214687800	Weak transcription	Esophagus	oesophagus
27	chr1:214686000-214687400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:214686400-214687200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:214686400-214688000	Enhancers	Osteobl	bone
30	chr1:214686600-214687400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:214686600-214687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:214686600-214687800	Enhancers	NH-A	brain
33	chr1:214686600-214688600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:214686600-214690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:214686800-214687200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:214686800-214687400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr1:214686800-214687600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:214686800-214687600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr1:214686800-214687800	Enhancers	A549	lung
40	chr1:214686800-214687800	Genic enhancers	NHEK	skin
41	chr1:214686800-214688000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:214686800-214688000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:214686800-214688400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:214686800-214688600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr1:214686800-214688800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:214686800-214689000	Enhancers	NHLF	lung
47	chr1:214686800-214690000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:214686800-214693000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:214686800-214694400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:214687000-214687400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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