Variant report

Variant	rs1200139
Chromosome Location	chr1:169081409-169081410
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	chr1:169080364..169082567-chr1:169082625..169085325,2	K562	blood:

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

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

rs_ID	r²[population]
rs1200137	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs1200138	0.86[EUR][1000 genomes]
rs1200140	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169076800-169084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:169077200-169082800	Weak transcription	Aorta	Aorta
3	chr1:169077200-169085200	Weak transcription	Spleen	Spleen
4	chr1:169078400-169083800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:169078800-169082200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:169079800-169081800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:169079800-169082200	Enhancers	Ovary	ovary
8	chr1:169079800-169085000	Weak transcription	Adipose Nuclei	Adipose
9	chr1:169079800-169085200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:169079800-169094600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:169079800-169105800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:169080000-169082800	Weak transcription	HSMMtube	muscle
13	chr1:169080000-169085000	Genic enhancers	HepG2	liver
14	chr1:169080200-169082400	Weak transcription	Brain Germinal Matrix	brain
15	chr1:169080200-169084400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:169080200-169085000	Weak transcription	Colonic Mucosa	Colon
17	chr1:169080200-169086400	Genic enhancers	Fetal Intestine Small	intestine
18	chr1:169080200-169088800	Genic enhancers	Hela-S3	cervix
19	chr1:169080200-169089800	Genic enhancers	Fetal Intestine Large	intestine
20	chr1:169080400-169081600	Flanking Active TSS	Fetal Heart	heart
21	chr1:169080400-169081800	Enhancers	Lung	lung
22	chr1:169080400-169082000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:169080400-169082000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
24	chr1:169080400-169082000	Genic enhancers	Pancreas	Pancrea
25	chr1:169080400-169082000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:169080400-169082200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:169080400-169082400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
28	chr1:169080400-169083400	Enhancers	Placenta	Placenta
29	chr1:169080400-169083800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:169080400-169084000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:169080400-169084000	Strong transcription	Primary T cells from cord blood	blood
32	chr1:169080400-169084200	Genic enhancers	Left Ventricle	heart
33	chr1:169080600-169081600	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr1:169080600-169081800	Genic enhancers	Stomach Smooth Muscle	stomach
35	chr1:169080600-169082000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:169080600-169082000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:169080600-169082000	Genic enhancers	Liver	Liver
38	chr1:169080600-169082200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:169080600-169082200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:169080600-169082200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:169080600-169082200	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
42	chr1:169080600-169082400	Genic enhancers	HUVEC	blood vessel
43	chr1:169080600-169082800	Weak transcription	Esophagus	oesophagus
44	chr1:169080600-169082800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr1:169080600-169083800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:169080600-169084000	Transcr. at gene 5' and 3'	A549	lung
47	chr1:169080600-169084200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:169080600-169084200	Genic enhancers	HMEC	breast
49	chr1:169080600-169084600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:169080600-169085200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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