Variant report

Variant	rs11559995
Chromosome Location	chr12:62905723-62905724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11174491	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174502	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174503	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174515	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174531	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174549	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174554	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174558	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174560	0.83[EUR][1000 genomes]
rs11174561	0.83[EUR][1000 genomes]
rs11174566	0.83[EUR][1000 genomes]
rs12161814	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228446	0.89[ASN][1000 genomes]
rs4405369	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302781	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74095806	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74095822	0.82[EUR][1000 genomes];0.89[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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3390559	chr12:62902734-62920842	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
2	chr12:62863400-62911000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:62863600-62926400	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:62864000-62906200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:62866200-62906200	Weak transcription	Aorta	Aorta
6	chr12:62866600-62906200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:62866600-62912400	Weak transcription	NHLF	lung
8	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
9	chr12:62871000-62910800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:62871800-62926200	Weak transcription	Fetal Brain Male	brain
11	chr12:62874600-62917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:62876000-62905800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:62876000-62937400	Weak transcription	Gastric	stomach
14	chr12:62876200-62913000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:62877800-62906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:62879000-62912000	Weak transcription	Brain Angular Gyrus	brain
17	chr12:62886000-62911200	Weak transcription	Brain Substantia Nigra	brain
18	chr12:62888800-62906400	Weak transcription	Right Ventricle	heart
19	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
20	chr12:62892800-62911200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:62894400-62926200	Weak transcription	NH-A	brain
22	chr12:62895200-62906200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:62895400-62906200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:62895800-62906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:62897000-62916400	Weak transcription	Fetal Heart	heart
26	chr12:62897600-62931000	Weak transcription	K562	blood
27	chr12:62897600-62944000	Weak transcription	Esophagus	oesophagus
28	chr12:62897800-62911200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:62898000-62923400	Weak transcription	NHDF-Ad	bronchial
30	chr12:62898600-62912800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:62898800-62906200	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:62899000-62906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:62899800-62906000	Weak transcription	Brain Germinal Matrix	brain
34	chr12:62900400-62906200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:62900600-62909600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:62901200-62906600	Strong transcription	Placenta	Placenta
37	chr12:62901200-62909000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:62901800-62906000	Weak transcription	Fetal Stomach	stomach
39	chr12:62901800-62907000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr12:62901800-62907800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:62902000-62906200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:62902000-62906200	Weak transcription	Left Ventricle	heart
43	chr12:62902400-62906200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:62902400-62906200	Weak transcription	Lung	lung
45	chr12:62902400-62906200	Weak transcription	Thymus	Thymus
46	chr12:62902400-62911200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:62902400-62929200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:62902600-62912200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:62902600-62913200	Weak transcription	Ovary	ovary
50	chr12:62902600-62926600	Weak transcription	Stomach Smooth Muscle	stomach

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