Variant report

Variant	rs35778098
Chromosome Location	chr12:117131917-117131918
allele	A/C
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	chr12:117131366-117132215	HL-60	blood:	n/a	n/a
2	RUNX3	chr12:117131746-117132291	GM12878	blood:	n/a	n/a
3	EBF1	chr12:117131608-117131920	GM12878	blood:	n/a	chr12:117131736-117131745 chr12:117131735-117131746 chr12:117131734-117131747
4	RUNX3	chr12:117131914-117132407	GM12878	blood:	n/a	n/a
5	MTA3	chr12:117131673-117132581	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:117131679-117132358	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:117129764..117132726-chr12:117134572..117136682,4	MCF-7	breast:
2	chr12:117124906..117127466-chr12:117130857..117133400,3	MCF-7	breast:
3	chr12:117126789..117129460-chr12:117131891..117135888,3	MCF-7	breast:
4	chr12:117124747..117126838-chr12:117131104..117134060,2	K562	blood:

Variant related genes	Relation type
ENSG00000257654	TF binding region
ENSG00000257654	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11832667	0.82[EUR][1000 genomes]
rs11832684	0.82[EUR][1000 genomes]
rs11836478	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837489	0.82[EUR][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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv521649	chr12:117127540-117136787	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117126000-117133000	Weak transcription	Spleen	Spleen
2	chr12:117127600-117134800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:117130400-117132200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:117130600-117132400	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr12:117131000-117132000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
6	chr12:117131000-117132000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:117131000-117132200	Flanking Active TSS	Fetal Brain Female	brain
8	chr12:117131200-117132000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:117131200-117132000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:117131200-117132000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr12:117131200-117132000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr12:117131200-117132000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:117131200-117132000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:117131200-117132000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr12:117131200-117132000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr12:117131200-117132000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
17	chr12:117131200-117132000	Enhancers	Lung	lung
18	chr12:117131200-117132000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr12:117131200-117132000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr12:117131200-117132200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:117131200-117132200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
22	chr12:117131200-117132200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
23	chr12:117131400-117132000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:117131400-117132000	Enhancers	Esophagus	oesophagus
25	chr12:117131400-117132000	Enhancers	Gastric	stomach
26	chr12:117131400-117132000	Flanking Active TSS	Left Ventricle	heart
27	chr12:117131400-117132000	Bivalent Enhancer	GM12878-XiMat	blood
28	chr12:117131400-117132200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:117131400-117132400	Active TSS	Right Atrium	heart
30	chr12:117131600-117132000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
31	chr12:117131600-117132000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr12:117131600-117132000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:117131600-117132000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:117131600-117132000	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr12:117131600-117132000	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:117131600-117132000	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr12:117131600-117132000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr12:117131600-117132000	Bivalent Enhancer	Fetal Brain Male	brain
39	chr12:117131600-117132000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
40	chr12:117131600-117132000	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr12:117131600-117132200	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr12:117131600-117132400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:117131600-117132400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:117131600-117132600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:117131600-117132600	Bivalent Enhancer	Fetal Stomach	stomach
46	chr12:117131800-117132000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr12:117131800-117132000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:117131800-117132000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:117131800-117132000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:117131800-117132000	Flanking Active TSS	H9 Cell Line	embryonic stem cell

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