Variant report

Variant	rs6490075
Chromosome Location	chr12:116981497-116981498
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:116970149..116972924-chr12:116980569..116984138,3	K562	blood:
2	chr12:116974299..116976845-chr12:116980092..116981659,2	MCF-7	breast:
3	chr12:116978005..116980165-chr12:116981045..116983272,3	K562	blood:
4	chr12:116934947..116936809-chr12:116979715..116981529,2	MCF-7	breast:
5	chr12:116970330..116972151-chr12:116980269..116981927,2	K562	blood:
6	chr12:116978187..116980007-chr12:116980283..116982545,2	K562	blood:
7	chr12:116972954..116976218-chr12:116977204..116983029,5	K562	blood:

No data

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	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774872	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10850662	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10850663	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068062	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068070	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068075	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11609040	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11609872	0.86[ASN][1000 genomes]
rs11610226	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615960	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1394801	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1394802	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2047952	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2089222	0.87[ASN][1000 genomes]
rs2102294	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2893685	0.87[ASN][1000 genomes]
rs60521218	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6490076	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297552	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300418	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7304300	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7315385	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7954181	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7961538	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7969190	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7969566	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7972701	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976256	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116972800-116982000	Weak transcription	Ovary	ovary
2	chr12:116973000-116986000	Weak transcription	Aorta	Aorta
3	chr12:116975600-116984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:116977600-116985400	Weak transcription	Placenta	Placenta
5	chr12:116977800-116984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:116978000-116982200	Weak transcription	Colonic Mucosa	Colon
7	chr12:116978000-116983200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:116978000-116983400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:116978000-116985800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:116978200-116982200	Weak transcription	Liver	Liver
11	chr12:116978200-116985800	Weak transcription	Psoas Muscle	Psoas
12	chr12:116978200-116989400	Weak transcription	Esophagus	oesophagus
13	chr12:116978400-116983600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:116978400-116984200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:116978400-116985000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:116978400-116985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:116978600-116983000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:116978600-116983600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:116978800-116981600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:116978800-116981600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:116978800-116982400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:116978800-116982600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:116978800-116983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:116980000-116983800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:116980200-116984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:116980400-116982000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:116980400-116982400	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:116980400-116982800	Enhancers	Fetal Lung	lung
29	chr12:116980400-116983200	Enhancers	Adipose Nuclei	Adipose
30	chr12:116980400-116983800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:116980400-116983800	Enhancers	Fetal Muscle Leg	muscle
32	chr12:116980600-116982200	Weak transcription	NHEK	skin
33	chr12:116980600-116982600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:116980600-116984200	Enhancers	Fetal Muscle Trunk	muscle
35	chr12:116980600-116985000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:116980800-116981600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:116980800-116981600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:116980800-116981800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:116980800-116982400	Weak transcription	HMEC	breast
40	chr12:116980800-116985800	Weak transcription	Right Ventricle	heart
41	chr12:116980800-116985800	Weak transcription	NH-A	brain
42	chr12:116981000-116981600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:116981000-116982400	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:116981000-116982400	Weak transcription	A549	lung
45	chr12:116981000-116982600	Weak transcription	K562	blood
46	chr12:116981000-116983000	Weak transcription	Fetal Brain Female	brain
47	chr12:116981000-116983400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:116981000-116983600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:116981000-116983600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:116981000-116985200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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