Variant report

Variant	rs12080486
Chromosome Location	chr1:120330396-120330397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120327792..120331105-chr1:120334813..120337801,3	MCF-7	breast:
2	chr1:120329924..120336261-chr1:120336777..120341772,6	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10754419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10923899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10923901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12070819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12071960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12073231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12076466	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12086303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12094770	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12408507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12408976	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12409248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28522608	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3213910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs729233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73000454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120321600-120330800	Enhancers	Placenta	Placenta
2	chr1:120323800-120332600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:120324800-120330600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:120324800-120330800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:120324800-120331000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:120324800-120335000	Enhancers	Fetal Intestine Large	intestine
7	chr1:120324800-120335000	Enhancers	Fetal Intestine Small	intestine
8	chr1:120325200-120331000	Enhancers	HMEC	breast
9	chr1:120325400-120331600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:120325600-120333600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:120326600-120330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:120326800-120330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:120327000-120330400	Weak transcription	Fetal Kidney	kidney
14	chr1:120327200-120336400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:120327400-120337000	Weak transcription	Colonic Mucosa	Colon
16	chr1:120328000-120331000	Enhancers	Stomach Mucosa	stomach
17	chr1:120328000-120331200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:120328200-120331200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:120328400-120330800	Enhancers	NHEK	skin
20	chr1:120328400-120336800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:120328600-120333200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:120328800-120333200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:120328800-120333600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:120329000-120330400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:120329000-120332800	Weak transcription	Fetal Stomach	stomach
26	chr1:120329400-120330400	Weak transcription	Liver	Liver
27	chr1:120329400-120330600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:120329400-120330600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:120329400-120331200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:120329600-120333600	Weak transcription	Gastric	stomach
31	chr1:120330000-120330600	Enhancers	Pancreas	Pancrea
32	chr1:120330000-120330800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:120330000-120330800	Enhancers	HSMMtube	muscle
34	chr1:120330000-120331000	Enhancers	Osteobl	bone
35	chr1:120330000-120331200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:120330000-120331200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:120330000-120331200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:120330000-120331200	Enhancers	HSMM	muscle
39	chr1:120330000-120334400	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:120330200-120330800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:120330200-120330800	Enhancers	Fetal Lung	lung
42	chr1:120330200-120331200	Enhancers	HepG2	liver
43	chr1:120330200-120332800	Weak transcription	Small Intestine	intestine
44	chr1:120330200-120333600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:120330200-120336000	Weak transcription	Esophagus	oesophagus

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