Variant report

Variant	rs60871036
Chromosome Location	chr12:12476686-12476687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11054810	0.87[AFR][1000 genomes]
rs11054813	0.86[AFR][1000 genomes]
rs11615939	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375215	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2077511	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3741799	0.81[EUR][1000 genomes]
rs3741801	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57012305	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57217767	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57468925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58042333	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7301300	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301410	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313007	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277424	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73277430	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73277434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73277438	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277441	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277443	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277446	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277447	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898807	chr12:12448948-12502001	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3338681	chr12:12473885-12478083	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12466000-12484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:12467000-12484400	Weak transcription	Small Intestine	intestine
3	chr12:12470600-12480800	Weak transcription	K562	blood
4	chr12:12472800-12476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12472800-12480400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:12473000-12482800	Weak transcription	Gastric	stomach
7	chr12:12473000-12483000	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:12473200-12485200	Weak transcription	HSMMtube	muscle
9	chr12:12473200-12501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:12473400-12483000	Weak transcription	Aorta	Aorta
11	chr12:12473400-12484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:12473600-12482600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:12473600-12485200	Weak transcription	NH-A	brain
14	chr12:12473600-12493200	Weak transcription	Fetal Brain Female	brain
15	chr12:12473600-12502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:12473800-12483000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:12473800-12483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:12473800-12484600	Weak transcription	Lung	lung
19	chr12:12473800-12486200	Weak transcription	Colonic Mucosa	Colon
20	chr12:12473800-12487600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:12473800-12491800	Weak transcription	Left Ventricle	heart
22	chr12:12473800-12502400	Weak transcription	NHLF	lung
23	chr12:12474000-12476800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:12474000-12482800	Weak transcription	Ovary	ovary
25	chr12:12474000-12484400	Weak transcription	Pancreas	Pancrea
26	chr12:12474000-12489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:12474200-12480400	Weak transcription	Fetal Intestine Small	intestine
28	chr12:12474200-12483000	Weak transcription	Fetal Intestine Large	intestine
29	chr12:12474200-12486600	Weak transcription	Brain Substantia Nigra	brain
30	chr12:12474400-12483000	Weak transcription	Fetal Stomach	stomach
31	chr12:12475600-12480000	Weak transcription	Liver	Liver
32	chr12:12475600-12480600	Weak transcription	HepG2	liver
33	chr12:12475800-12478600	Weak transcription	Hela-S3	cervix
34	chr12:12476000-12484200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:12476000-12486400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:12476200-12477000	Enhancers	Fetal Kidney	kidney
37	chr12:12476200-12477000	Enhancers	Fetal Lung	lung
38	chr12:12476200-12477200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:12476200-12477200	Enhancers	Osteobl	bone
40	chr12:12476400-12476800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:12476400-12477000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr12:12476600-12476800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:12476600-12477000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:12476600-12477000	Enhancers	A549	lung

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