Variant report

Variant	rs372345130
Chromosome Location	chr12:122097299-122097300
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122096588..122098372-chr12:122100126..122101956,3	K562	blood:
2	chr12:122022812..122025052-chr12:122095729..122097350,2	K562	blood:
3	chr12:122095665..122097425-chr12:122100873..122103460,2	MCF-7	breast:
4	chr12:122017165..122019200-chr12:122095451..122098021,2	K562	blood:
5	chr12:122027393..122030554-chr12:122096277..122098532,3	K562	blood:
6	chr12:122062091..122065392-chr12:122094028..122098514,5	K562	blood:

Variant related genes	Relation type
ENSG00000256742	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000182500	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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
3	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122081800-122101400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
3	chr12:122091200-122109600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:122095000-122097600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:122095200-122097800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:122095400-122102000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:122096000-122097800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:122096200-122098000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:122096400-122097400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr12:122096400-122097400	Enhancers	Fetal Muscle Trunk	muscle
11	chr12:122096400-122097400	Flanking Active TSS	NHEK	skin
12	chr12:122096400-122097600	Flanking Active TSS	K562	blood
13	chr12:122096400-122097800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr12:122096400-122097800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:122096400-122097800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:122096400-122097800	Enhancers	Stomach Mucosa	stomach
17	chr12:122096400-122098000	Flanking Active TSS	Dnd41	blood
18	chr12:122096600-122097400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:122096600-122097400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:122096600-122097400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:122096600-122097400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:122096600-122097400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:122096600-122097400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:122096600-122097400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:122096600-122097400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr12:122096600-122097400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr12:122096600-122097400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:122096600-122097400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr12:122096600-122097400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:122096600-122097400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:122096600-122097400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr12:122096600-122097400	Active TSS	Brain Anterior Caudate	brain
33	chr12:122096600-122097400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr12:122096600-122097400	Enhancers	Fetal Muscle Leg	muscle
35	chr12:122096600-122097400	Flanking Active TSS	Fetal Stomach	stomach
36	chr12:122096600-122097400	Flanking Active TSS	Fetal Thymus	thymus
37	chr12:122096600-122097400	Enhancers	Gastric	stomach
38	chr12:122096600-122097400	Enhancers	Left Ventricle	heart
39	chr12:122096600-122097400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr12:122096600-122097400	Enhancers	Right Atrium	heart
41	chr12:122096600-122097400	Enhancers	A549	lung
42	chr12:122096600-122097400	Flanking Active TSS	GM12878-XiMat	blood
43	chr12:122096600-122097600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:122096600-122097600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr12:122096600-122097600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:122096600-122097600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr12:122096600-122097600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr12:122096600-122097800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:122096600-122097800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr12:122096600-122097800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links