Variant report

Variant	rs60268875
Chromosome Location	chr12:50215024-50215025
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50210017..50215332-chr12:50220398..50225792,6	MCF-7	breast:
2	chr12:50213961..50216545-chr12:50234924..50237715,2	MCF-7	breast:
3	chr12:50200740..50202923-chr12:50213695..50216667,2	MCF-7	breast:
4	chr12:50214966..50217807-chr12:50220350..50223080,3	K562	blood:
5	chr12:50168706..50170738-chr12:50213916..50216913,2	MCF-7	breast:
6	chr12:50200354..50203165-chr12:50213791..50216673,2	K562	blood:
7	chr12:50200354..50204251-chr12:50212561..50215291,3	K562	blood:

Variant related genes	Relation type
ENSG00000167566	Chromatin interaction
ENSG00000258057	Chromatin interaction
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1470908	0.85[EUR][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50195200-50218400	Weak transcription	K562	blood
2	chr12:50197600-50220400	Weak transcription	A549	lung
3	chr12:50199400-50218400	Weak transcription	HMEC	breast
4	chr12:50200000-50216800	Weak transcription	NHEK	skin
5	chr12:50200000-50219400	Weak transcription	Gastric	stomach
6	chr12:50202200-50217000	Weak transcription	HepG2	liver
7	chr12:50202200-50218400	Weak transcription	Fetal Brain Female	brain
8	chr12:50203600-50218000	Weak transcription	NH-A	brain
9	chr12:50203600-50219800	Weak transcription	Aorta	Aorta
10	chr12:50203800-50215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:50203800-50217800	Weak transcription	NHLF	lung
12	chr12:50203800-50218600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:50204200-50217800	Weak transcription	Fetal Brain Male	brain
14	chr12:50204400-50216600	Weak transcription	Brain Germinal Matrix	brain
15	chr12:50204400-50220200	Weak transcription	Fetal Kidney	kidney
16	chr12:50205000-50215200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:50205200-50215200	Weak transcription	Fetal Lung	lung
18	chr12:50205200-50219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:50205200-50220000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:50205600-50215200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:50205600-50216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:50208800-50221200	Weak transcription	Small Intestine	intestine
23	chr12:50210000-50215200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:50210000-50215200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:50210200-50215200	Weak transcription	Psoas Muscle	Psoas
26	chr12:50210200-50215600	Weak transcription	HSMM	muscle
27	chr12:50210200-50216600	Weak transcription	Ovary	ovary
28	chr12:50210200-50216800	Weak transcription	HSMMtube	muscle
29	chr12:50210200-50218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:50210200-50218400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:50211600-50215800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:50212000-50217600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:50212200-50216000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:50213200-50215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:50213200-50215600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr12:50213400-50216000	Enhancers	Adipose Nuclei	Adipose
37	chr12:50213600-50215600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:50213600-50215800	Genic enhancers	Fetal Stomach	stomach
39	chr12:50213600-50215800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr12:50213600-50216000	Enhancers	Left Ventricle	heart
41	chr12:50213600-50216000	Enhancers	Right Ventricle	heart
42	chr12:50213600-50218000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:50213600-50219000	Enhancers	Brain Hippocampus Middle	brain
44	chr12:50213600-50219000	Genic enhancers	Fetal Muscle Leg	muscle
45	chr12:50213800-50215200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:50213800-50215400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:50213800-50215600	Enhancers	Brain Anterior Caudate	brain
48	chr12:50213800-50215800	Genic enhancers	Colon Smooth Muscle	Colon
49	chr12:50213800-50216000	Enhancers	Right Atrium	heart
50	chr12:50213800-50216200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links