Variant report

Variant	rs12758060
Chromosome Location	chr1:61799836-61799837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11207728	0.90[ASN][1000 genomes]
rs1125778	0.93[ASN][1000 genomes]
rs12066006	0.96[ASN][1000 genomes]
rs12134760	0.96[ASN][1000 genomes]
rs12741051	0.96[ASN][1000 genomes]
rs1344420	0.90[ASN][1000 genomes]
rs1344421	0.90[ASN][1000 genomes]
rs1474873	0.93[ASN][1000 genomes]
rs2103882	0.81[ASN][1000 genomes]
rs2180198	0.90[ASN][1000 genomes]
rs2180199	0.90[ASN][1000 genomes]
rs2180200	0.90[ASN][1000 genomes]
rs2207788	0.90[ASN][1000 genomes]
rs2364467	0.93[ASN][1000 genomes]
rs2886080	0.90[ASN][1000 genomes]
rs4406666	0.93[ASN][1000 genomes]
rs4915735	0.90[ASN][1000 genomes]
rs4915737	0.93[ASN][1000 genomes]
rs6587917	0.93[ASN][1000 genomes]
rs6587918	0.90[ASN][1000 genomes]
rs6587919	0.86[ASN][1000 genomes]
rs6587920	0.90[ASN][1000 genomes]
rs6587921	0.90[ASN][1000 genomes]
rs6662305	0.90[ASN][1000 genomes]
rs6673795	0.90[ASN][1000 genomes]
rs6674884	0.93[ASN][1000 genomes]
rs6697762	0.90[ASN][1000 genomes]
rs6697777	0.90[ASN][1000 genomes]
rs6697913	0.86[ASN][1000 genomes]
rs6697955	0.86[ASN][1000 genomes]
rs7512491	0.90[ASN][1000 genomes]
rs7526670	0.90[ASN][1000 genomes]
rs7553582	0.90[ASN][1000 genomes]
rs9436635	0.96[ASN][1000 genomes]
rs9436637	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	28 gene(s)	inside rSNPs	diseases
10	nsv1014023	chr1:61788310-61859074	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv534981	chr1:61788310-61859074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61784800-61800400	Weak transcription	Ovary	ovary
2	chr1:61784800-61802800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:61784800-61803200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:61784800-61803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:61785000-61802400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:61785000-61802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:61786000-61813600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:61786600-61800400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:61786600-61800400	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:61786600-61800400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:61788400-61800600	Weak transcription	Gastric	stomach
12	chr1:61788400-61802800	Weak transcription	Placenta	Placenta
13	chr1:61790000-61803600	Weak transcription	Hela-S3	cervix
14	chr1:61790000-61805400	Weak transcription	Lung	lung
15	chr1:61790200-61800600	Weak transcription	Pancreas	Pancrea
16	chr1:61791200-61800200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:61791200-61800400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:61792800-61800400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:61793000-61800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:61795600-61800200	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:61795600-61800400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:61796000-61803600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:61796200-61802400	Weak transcription	A549	lung
24	chr1:61796200-61805400	Weak transcription	Esophagus	oesophagus
25	chr1:61797400-61800200	Weak transcription	Brain Germinal Matrix	brain
26	chr1:61797400-61800600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:61798000-61800000	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:61798000-61800400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:61798000-61801000	Strong transcription	HepG2	liver
30	chr1:61798200-61802200	Weak transcription	HUVEC	blood vessel
31	chr1:61798400-61800400	Weak transcription	Adipose Nuclei	Adipose
32	chr1:61798400-61800400	Weak transcription	Brain Substantia Nigra	brain
33	chr1:61798400-61802600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:61798600-61801200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:61798600-61805000	Enhancers	Fetal Heart	heart
36	chr1:61799200-61800400	Weak transcription	Aorta	Aorta
37	chr1:61799200-61802800	Weak transcription	Fetal Kidney	kidney
38	chr1:61799400-61800800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:61799400-61801200	Enhancers	Left Ventricle	heart
40	chr1:61799400-61801600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:61799600-61800000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:61799600-61800000	Enhancers	Psoas Muscle	Psoas
43	chr1:61799600-61800800	Strong transcription	NHEK	skin
44	chr1:61799600-61801000	Genic enhancers	K562	blood
45	chr1:61799600-61801200	Enhancers	Fetal Brain Male	brain
46	chr1:61799600-61801200	Genic enhancers	Fetal Stomach	stomach
47	chr1:61799600-61802600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:61799800-61800000	Genic enhancers	Brain Cingulate Gyrus	brain
49	chr1:61799800-61800000	Flanking Active TSS	Fetal Lung	lung
50	chr1:61799800-61800400	Weak transcription	Liver	Liver

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