Variant report

Variant	rs60282131
Chromosome Location	chr12:122164203-122164204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122163003..122165142-chr12:122169048..122171086,2	K562	blood:
2	chr12:122162572..122165031-chr12:122171808..122174771,2	K562	blood:
3	chr12:122156607..122159627-chr12:122162915..122168187,5	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28477684	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411707	1.00[AMR][1000 genomes]
rs73411715	1.00[AMR][1000 genomes]
rs73411716	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411766	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:122152000-122164600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:122152000-122166400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:122152000-122167400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:122152000-122182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122152200-122165000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:122152200-122166600	Weak transcription	Ovary	ovary
9	chr12:122152200-122181600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:122152200-122181800	Weak transcription	Right Ventricle	heart
11	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
13	chr12:122152200-122188000	Weak transcription	Dnd41	blood
14	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:122152400-122171600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:122152400-122188000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:122152800-122169200	Weak transcription	Fetal Brain Female	brain
20	chr12:122152800-122186200	Weak transcription	Pancreas	Pancrea
21	chr12:122153600-122166400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:122154000-122182200	Weak transcription	Primary T cells from cord blood	blood
23	chr12:122154200-122165200	Weak transcription	Fetal Intestine Large	intestine
24	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
25	chr12:122155000-122165200	Weak transcription	HepG2	liver
26	chr12:122155200-122167000	Weak transcription	Lung	lung
27	chr12:122155200-122170000	Weak transcription	Adipose Nuclei	Adipose
28	chr12:122155200-122181600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:122155200-122182400	Weak transcription	NHEK	skin
30	chr12:122155200-122186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:122155400-122166400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:122155400-122166600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:122155400-122169400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:122155400-122178600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:122155600-122186200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:122157000-122174800	Weak transcription	Hela-S3	cervix
37	chr12:122157200-122179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:122157200-122182400	Weak transcription	GM12878-XiMat	blood
39	chr12:122158200-122171800	Weak transcription	K562	blood
40	chr12:122158800-122171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:122158800-122175000	Weak transcription	Osteobl	bone
42	chr12:122158800-122186200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:122158800-122186200	Weak transcription	NHDF-Ad	bronchial
44	chr12:122158800-122186400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:122159000-122186200	Weak transcription	NH-A	brain
46	chr12:122159200-122168400	Weak transcription	Placenta	Placenta
47	chr12:122159200-122170200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:122159200-122181600	Weak transcription	NHLF	lung
49	chr12:122159200-122186400	Weak transcription	HSMM	muscle
50	chr12:122159400-122194800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links