Variant report

Variant	rs60521218
Chromosome Location	chr12:116979172-116979173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:116978187..116980007-chr12:116980283..116982545,2	K562	blood:
2	chr12:116970494..116972388-chr12:116977852..116979580,2	K562	blood:
3	chr12:116970604..116972691-chr12:116978368..116979917,2	MCF-7	breast:
4	chr12:116972870..116975513-chr12:116976447..116979228,3	K562	blood:
5	chr12:116978005..116980165-chr12:116981045..116983272,3	K562	blood:
6	chr12:116972954..116976218-chr12:116977204..116983029,5	K562	blood:

Variant related genes	Relation type
ENSG00000196668	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10774871	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774872	0.95[ASN][1000 genomes]
rs10850662	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10850663	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068062	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068070	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068075	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11609040	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609872	0.87[ASN][1000 genomes]
rs11610226	0.95[ASN][1000 genomes]
rs11615960	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1394801	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1394802	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2047952	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2089222	0.88[ASN][1000 genomes]
rs2102294	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2893685	0.88[ASN][1000 genomes]
rs6490075	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6490076	0.95[ASN][1000 genomes]
rs7297552	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7300418	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7304300	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7315385	0.95[ASN][1000 genomes]
rs7954181	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7961538	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969190	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7969566	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7972701	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7976256	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116972800-116980400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:116972800-116982000	Weak transcription	Ovary	ovary
3	chr12:116973000-116986000	Weak transcription	Aorta	Aorta
4	chr12:116975600-116984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:116976200-116979400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:116977400-116980200	Weak transcription	Right Atrium	heart
7	chr12:116977400-116980600	Weak transcription	Lung	lung
8	chr12:116977600-116979800	Weak transcription	HUVEC	blood vessel
9	chr12:116977600-116985400	Weak transcription	Placenta	Placenta
10	chr12:116977800-116984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:116978000-116980400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:116978000-116980400	Weak transcription	Fetal Lung	lung
13	chr12:116978000-116980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:116978000-116980600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:116978000-116980600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:116978000-116982200	Weak transcription	Colonic Mucosa	Colon
17	chr12:116978000-116983200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:116978000-116983400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:116978000-116985800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:116978200-116980200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:116978200-116980200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:116978200-116980400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:116978200-116980400	Weak transcription	Right Ventricle	heart
24	chr12:116978200-116980400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:116978200-116980400	Weak transcription	Hela-S3	cervix
26	chr12:116978200-116980800	Weak transcription	Fetal Thymus	thymus
27	chr12:116978200-116982200	Weak transcription	Liver	Liver
28	chr12:116978200-116985800	Weak transcription	Psoas Muscle	Psoas
29	chr12:116978200-116989400	Weak transcription	Esophagus	oesophagus
30	chr12:116978400-116980000	Weak transcription	A549	lung
31	chr12:116978400-116980000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr12:116978400-116980200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:116978400-116980200	Weak transcription	HMEC	breast
34	chr12:116978400-116980400	Weak transcription	Adipose Nuclei	Adipose
35	chr12:116978400-116980400	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:116978400-116980400	Weak transcription	K562	blood
37	chr12:116978400-116980400	Weak transcription	NH-A	brain
38	chr12:116978400-116980800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:116978400-116983600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:116978400-116984200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:116978400-116985000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:116978400-116985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:116978600-116980000	Weak transcription	NHEK	skin
44	chr12:116978600-116980400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:116978600-116980800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:116978600-116980800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:116978600-116983000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:116978600-116983600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:116978800-116980000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:116978800-116980200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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