Variant report

Variant	rs115198471
Chromosome Location	chr12:120807416-120807417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120807013-120807471	HCT-116	colon:	n/a	n/a
2	TCF12	chr12:120807336-120807718	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:120806837-120807502	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr12:120806007-120807796	H1-neurons	neurons:	n/a	chr12:120806454-120806467 chr12:120807182-120807195 chr12:120806586-120806599 chr12:120806454-120806467
5	POLR2A	chr12:120807015-120807449	HCT-116	colon:	n/a	n/a
6	POLR2A	chr12:120807363-120807714	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr12:120807071-120807597	ECC-1	luminal epithelium:	n/a	chr12:120807206-120807217
8	POLR2A	chr12:120807033-120807427	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-5	chr12:120807162-120809425	NONHSAT031167

Variant related genes	Relation type
RPS27P25	TF binding region
MSI1	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	esv14211	chr12:120801254-120809932	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv560437	chr12:120803783-120809590	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3323244	chr12:120805194-120807742	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3393755	chr12:120805594-120808342	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3427204	chr12:120805794-120808192	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr12:120804800-120807800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120804800-120807800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:120805000-120807800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:120805000-120808000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:120805200-120808000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:120805400-120807600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:120805400-120807600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:120805600-120807600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr12:120805600-120807800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:120805600-120807800	Active TSS	Right Atrium	heart
11	chr12:120805600-120808000	Active TSS	Left Ventricle	heart
12	chr12:120805800-120807600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:120805800-120807600	Active TSS	Duodenum Mucosa	Duodenum
14	chr12:120805800-120807600	Active TSS	Fetal Brain Female	brain
15	chr12:120805800-120807600	Active TSS	Rectal Smooth Muscle	rectum
16	chr12:120805800-120808000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:120805800-120808200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:120806000-120807600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr12:120806200-120807600	Enhancers	Liver	Liver
20	chr12:120806200-120807600	Enhancers	Lung	lung
21	chr12:120806400-120807800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:120806400-120807800	Bivalent/Poised TSS	Aorta	Aorta
23	chr12:120806400-120807800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:120807200-120807600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr12:120807200-120807600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
26	chr12:120807200-120807600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
27	chr12:120807200-120807600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
28	chr12:120807200-120807600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:120807200-120807600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:120807200-120807600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:120807200-120807600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:120807200-120807600	Active TSS	Fetal Kidney	kidney
33	chr12:120807200-120807600	Flanking Active TSS	Ovary	ovary
34	chr12:120807200-120807600	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
35	chr12:120807200-120807600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:120807200-120807600	Bivalent/Poised TSS	HSMM	muscle
37	chr12:120807200-120807800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:120807200-120807800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:120807200-120807800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
40	chr12:120807200-120807800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
41	chr12:120807200-120807800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:120807200-120807800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:120807200-120807800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr12:120807200-120807800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr12:120807200-120807800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr12:120807200-120808000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr12:120807200-120808000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr12:120807200-120808000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr12:120807200-120808000	Bivalent Enhancer	Placenta	Placenta
50	chr12:120807200-120809000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links