Variant report

Variant	rs61952240
Chromosome Location	chr12:122166477-122166478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122166054..122168209-chr12:122173344..122175494,2	MCF-7	breast:
2	chr12:122165678..122167357-chr12:122170260..122172595,2	K562	blood:
3	chr12:122165981..122168764-chr12:122207099..122209426,2	K562	blood:
4	chr12:122165564..122167927-chr12:122238653..122240378,2	MCF-7	breast:
5	chr12:122156607..122159627-chr12:122162915..122168187,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61952255	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9651793	0.94[ASN][1000 genomes]
rs9805066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:73 , 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	chr12:122152000-122167400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:122152000-122182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:122152200-122166600	Weak transcription	Ovary	ovary
6	chr12:122152200-122181600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:122152200-122181800	Weak transcription	Right Ventricle	heart
8	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
10	chr12:122152200-122188000	Weak transcription	Dnd41	blood
11	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:122152400-122171600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:122152400-122188000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:122152800-122169200	Weak transcription	Fetal Brain Female	brain
17	chr12:122152800-122186200	Weak transcription	Pancreas	Pancrea
18	chr12:122154000-122182200	Weak transcription	Primary T cells from cord blood	blood
19	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
20	chr12:122155200-122167000	Weak transcription	Lung	lung
21	chr12:122155200-122170000	Weak transcription	Adipose Nuclei	Adipose
22	chr12:122155200-122181600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:122155200-122182400	Weak transcription	NHEK	skin
24	chr12:122155200-122186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:122155400-122166600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:122155400-122169400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:122155400-122178600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:122155600-122186200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:122157000-122174800	Weak transcription	Hela-S3	cervix
30	chr12:122157200-122179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:122157200-122182400	Weak transcription	GM12878-XiMat	blood
32	chr12:122158200-122171800	Weak transcription	K562	blood
33	chr12:122158800-122171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:122158800-122175000	Weak transcription	Osteobl	bone
35	chr12:122158800-122186200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:122158800-122186200	Weak transcription	NHDF-Ad	bronchial
37	chr12:122158800-122186400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:122159000-122186200	Weak transcription	NH-A	brain
39	chr12:122159200-122168400	Weak transcription	Placenta	Placenta
40	chr12:122159200-122170200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:122159200-122181600	Weak transcription	NHLF	lung
42	chr12:122159200-122186400	Weak transcription	HSMM	muscle
43	chr12:122159400-122194800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:122159600-122181600	Weak transcription	Brain Angular Gyrus	brain
45	chr12:122161800-122181600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:122162400-122176400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:122163200-122167000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:122163400-122166600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:122163400-122167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:122163400-122181400	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links