Variant report

Variant	rs12463545
Chromosome Location	chr2:37797155-37797156
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37795029..37797811-chr2:37802354..37805859,3	K562	blood:
2	chr2:37796095..37797959-chr2:37798225..37800388,2	K562	blood:
3	chr2:37791325..37795155-chr2:37795900..37799036,5	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10210792	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11676508	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11677042	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12712538	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12712539	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13384103	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2191846	0.96[ASN][1000 genomes]
rs34387715	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4670733	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7591698	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37790400-37797800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:37792800-37799600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:37794000-37797400	Weak transcription	HMEC	breast
4	chr2:37794200-37797400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:37794200-37797600	Weak transcription	HSMMtube	muscle
6	chr2:37794400-37798000	Weak transcription	Adipose Nuclei	Adipose
7	chr2:37794600-37797200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:37794800-37797200	Weak transcription	HSMM	muscle
9	chr2:37794800-37797400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:37795600-37797400	Enhancers	Stomach Smooth Muscle	stomach
11	chr2:37795600-37797800	Enhancers	Colon Smooth Muscle	Colon
12	chr2:37795600-37799200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:37795800-37797200	Enhancers	Aorta	Aorta
14	chr2:37795800-37798400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:37796000-37797200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:37796200-37797400	Enhancers	GM12878-XiMat	blood
17	chr2:37796200-37797800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:37796200-37798800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:37796200-37801200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:37796200-37801600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:37796400-37797400	Enhancers	Fetal Brain Female	brain
22	chr2:37796400-37797800	Enhancers	NHDF-Ad	bronchial
23	chr2:37796400-37799200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:37796400-37800200	Enhancers	Fetal Brain Male	brain
25	chr2:37796400-37801000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:37796400-37801600	Enhancers	NH-A	brain
27	chr2:37796400-37801800	Enhancers	Osteobl	bone
28	chr2:37796400-37809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:37796600-37797800	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:37796600-37797800	Enhancers	NHLF	lung
31	chr2:37796600-37798600	Enhancers	Fetal Heart	heart
32	chr2:37796600-37798600	Enhancers	Hela-S3	cervix
33	chr2:37796600-37798800	Weak transcription	Left Ventricle	heart
34	chr2:37796600-37799200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:37796600-37799200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr2:37796600-37810200	Weak transcription	Pancreas	Pancrea
37	chr2:37796800-37797200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:37796800-37797800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:37796800-37798400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:37796800-37801000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:37797000-37797200	Enhancers	K562	blood
42	chr2:37797000-37798600	Enhancers	Rectal Smooth Muscle	rectum
43	chr2:37797000-37799000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:37797000-37799200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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