Variant report

Variant	rs12060079
Chromosome Location	chr1:97954272-97954273
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	chr1:97951367..97953708-chr1:97954168..97957198,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10493892	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165888	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058771	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061124	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062552	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073044	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074340	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087910	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097874	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17368837	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811171	0.84[EUR][1000 genomes]
rs3956688	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612662	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv830703	chr1:97907708-98101144	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv519191	chr1:97945292-98000861	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv871449	chr1:97950034-97979317	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97872600-98014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:97898800-97960000	Weak transcription	Left Ventricle	heart
3	chr1:97928600-98018200	Weak transcription	Ovary	ovary
4	chr1:97930400-97955400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:97930600-97979200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:97934400-97955600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:97939600-97955400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:97941600-97954400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:97942800-97954400	Weak transcription	Gastric	stomach
10	chr1:97945200-97974200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:97945200-97976000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:97945400-97969600	Weak transcription	Primary T cells from cord blood	blood
13	chr1:97945600-97967000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:97949400-97966200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:97952200-97955200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:97953200-97965400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:97953400-97957600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:97953800-97955800	Enhancers	HMEC	breast
19	chr1:97954000-97954600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:97954000-97955800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:97954000-97955800	Enhancers	NHEK	skin
22	chr1:97954200-97954400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:97954200-97954400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:97954200-97954400	Enhancers	Psoas Muscle	Psoas
25	chr1:97954200-97954600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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