Variant report

Variant	rs74060887
Chromosome Location	chr12:12019566-12019567
allele	A/C
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]
rs58075455	1.00[AMR][1000 genomes]
rs58425910	1.00[AMR][1000 genomes]
rs74060888	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060891	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:104 , 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	chr12:12005000-12022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:12014400-12020600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:12014600-12030600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:12014600-12030800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:12015000-12022200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:12015400-12022200	Weak transcription	Esophagus	oesophagus
12	chr12:12016600-12019800	ZNF genes & repeats	GM12878-XiMat	blood
13	chr12:12016600-12022600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:12016800-12019600	ZNF genes & repeats	Dnd41	blood
15	chr12:12016800-12021800	Weak transcription	Lung	lung
16	chr12:12017000-12020800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:12017000-12022200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:12017000-12022200	Weak transcription	Gastric	stomach
19	chr12:12017200-12019600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:12017200-12022200	Weak transcription	Pancreas	Pancrea
21	chr12:12017200-12022400	Weak transcription	Ovary	ovary
22	chr12:12017200-12022600	Weak transcription	Placenta	Placenta
23	chr12:12017200-12022600	Weak transcription	NHLF	lung
24	chr12:12017200-12030600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:12017200-12030800	Weak transcription	NHDF-Ad	bronchial
26	chr12:12017400-12022200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:12017600-12019600	Weak transcription	Fetal Stomach	stomach
28	chr12:12017600-12020000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:12017800-12020200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:12018000-12022200	Weak transcription	Spleen	Spleen
31	chr12:12018000-12028400	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:12018200-12019800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:12018200-12020000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr12:12018400-12020000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:12018600-12019600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
36	chr12:12018600-12019800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:12018600-12019800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:12018600-12020000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr12:12018600-12020000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr12:12018800-12019600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:12018800-12019600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
42	chr12:12018800-12019600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:12018800-12019600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
44	chr12:12018800-12019600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr12:12018800-12019600	ZNF genes & repeats	HepG2	liver
46	chr12:12018800-12019600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr12:12018800-12019800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:12018800-12019800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:12018800-12019800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr12:12018800-12019800	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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