Variant report

Variant	rs72550786
Chromosome Location	chr12:12022536-12022537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12578293	1.00[AMR][1000 genomes]
rs2448045	1.00[AMR][1000 genomes]
rs57740632	1.00[AMR][1000 genomes]
rs58878427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	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
3	nsv516796	chr12:12013985-12027745	Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
3	chr12:11989400-12023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:11996400-12022600	Weak transcription	HSMM	muscle
5	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:12014600-12030600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:12014600-12030800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:12016600-12022600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:12017200-12022600	Weak transcription	Placenta	Placenta
10	chr12:12017200-12022600	Weak transcription	NHLF	lung
11	chr12:12017200-12030600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:12017200-12030800	Weak transcription	NHDF-Ad	bronchial
13	chr12:12018000-12028400	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:12018800-12027200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:12019000-12026400	Strong transcription	Fetal Thymus	thymus
16	chr12:12019400-12027000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:12019600-12022600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:12019600-12022600	Weak transcription	Brain Substantia Nigra	brain
19	chr12:12019600-12023400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:12019600-12024800	Strong transcription	Dnd41	blood
21	chr12:12019600-12026800	Strong transcription	Primary B cells from cord blood	blood
22	chr12:12019600-12028000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:12019600-12028200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:12019600-12028200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:12019600-12028200	Weak transcription	Stomach Mucosa	stomach
26	chr12:12019600-12030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:12019600-12030600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:12019800-12022600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:12019800-12022600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:12019800-12023000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:12019800-12023200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:12019800-12024200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:12019800-12025800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:12019800-12026800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:12019800-12026800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:12019800-12027000	Strong transcription	Liver	Liver
37	chr12:12019800-12027200	Strong transcription	GM12878-XiMat	blood
38	chr12:12019800-12030400	Weak transcription	Fetal Heart	heart
39	chr12:12019800-12031200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:12020000-12022600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:12020000-12022600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:12020000-12022800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:12020000-12022800	Weak transcription	HUVEC	blood vessel
44	chr12:12020000-12022800	Weak transcription	NHEK	skin
45	chr12:12020000-12023800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:12020000-12024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:12020000-12026000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:12020000-12028200	Weak transcription	Psoas Muscle	Psoas
49	chr12:12020000-12028400	Weak transcription	Brain Anterior Caudate	brain
50	chr12:12020000-12031000	Weak transcription	HepG2	liver

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