Variant report

Variant	rs12300629
Chromosome Location	chr12:49841157-49841158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12296566	1.00[AFR][1000 genomes]
rs12296820	1.00[AFR][1000 genomes]
rs12305194	1.00[AFR][1000 genomes]
rs12308020	1.00[AFR][1000 genomes]
rs12309060	1.00[AFR][1000 genomes]
rs12311831	1.00[AFR][1000 genomes]
rs12312499	1.00[AFR][1000 genomes]
rs12314311	1.00[AFR][1000 genomes]
rs12314657	1.00[AFR][1000 genomes]
rs12322364	1.00[AFR][1000 genomes]
rs12322383	1.00[AFR][1000 genomes]
rs28420769	1.00[AFR][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	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
2	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49798400-49856000	Weak transcription	Primary T cells from cord blood	blood
2	chr12:49812600-49849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:49816000-49848800	Weak transcription	Fetal Kidney	kidney
4	chr12:49820400-49854400	Weak transcription	Dnd41	blood
5	chr12:49822800-49842600	Weak transcription	NHLF	lung
6	chr12:49823000-49854200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:49823000-49856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
9	chr12:49823200-49856000	Weak transcription	NHEK	skin
10	chr12:49823200-49856400	Weak transcription	HSMM	muscle
11	chr12:49823400-49854400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:49823400-49856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:49823400-49857400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:49823400-49876000	Weak transcription	Osteobl	bone
15	chr12:49828000-49863400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:49829400-49855000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:49831200-49849000	Weak transcription	NH-A	brain
18	chr12:49831600-49852000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:49833000-49849200	Weak transcription	Fetal Intestine Large	intestine
20	chr12:49833000-49849800	Weak transcription	K562	blood
21	chr12:49833400-49848600	Weak transcription	Psoas Muscle	Psoas
22	chr12:49833600-49849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:49833600-49854600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:49834000-49849400	Weak transcription	Left Ventricle	heart
25	chr12:49834200-49847400	Weak transcription	HepG2	liver
26	chr12:49837600-49856000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:49839200-49876000	Weak transcription	Fetal Thymus	thymus
28	chr12:49840200-49900600	Weak transcription	Pancreas	Pancrea
29	chr12:49840400-49841200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:49840400-49845600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:49840400-49848600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:49840400-49849800	Weak transcription	Aorta	Aorta
33	chr12:49840600-49841400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:49840600-49845400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:49840600-49848200	Weak transcription	A549	lung
36	chr12:49840600-49849200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:49840600-49849600	Weak transcription	Fetal Intestine Small	intestine
38	chr12:49840600-49856000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:49840600-49875800	Weak transcription	Hela-S3	cervix
40	chr12:49840800-49856000	Weak transcription	Fetal Muscle Leg	muscle

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