Variant report

Variant	rs76195175
Chromosome Location	chr12:117098016-117098017
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	GATA3	chr12:117097418-117098218	MCF-7	breast:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
2	FOSL2	chr12:117097497-117098068	SK-N-SH	brain:	n/a	chr12:117097687-117097699
3	NR2F2	chr12:117097462-117098071	MCF-7	breast:	n/a	n/a
4	PBX3	chr12:117097495-117098122	SK-N-SH	brain:	n/a	n/a
5	JUND	chr12:117097408-117098133	HCT-116	colon:	n/a	chr12:117097687-117097699
6	PBX3	chr12:117097393-117098143	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr12:117097339-117098349	SK-N-SH	brain:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
8	TCF7L2	chr12:117097562-117098117	Hela-S3	cervix:	n/a	chr12:117097762-117097776
9	JUND	chr12:117097423-117098133	SK-N-SH	brain:	n/a	chr12:117097687-117097699
10	JUND	chr12:117097432-117098086	SK-N-SH	brain:	n/a	chr12:117097687-117097699
11	NFIC	chr12:117097348-117098166	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr12:117097393-117098210	SK-N-SH	brain:	n/a	n/a
13	SIN3AK20	chr12:117097387-117098097	MCF-7	breast:	n/a	n/a
14	GATA3	chr12:117097343-117098178	A549	lung:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
15	GATA2	chr12:117097580-117098320	SH-SY5Y	brain:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
16	EP300	chr12:117097490-117098091	SK-N-SH	brain:	n/a	n/a
17	TCF7L2	chr12:117097520-117098246	PANC-1	pancreas:	n/a	chr12:117097762-117097776
18	FOSL1	chr12:117097410-117098142	HCT-116	colon:	n/a	chr12:117097687-117097699
19	NFIC	chr12:117097484-117098062	SK-N-SH	brain:	n/a	n/a
20	GATA3	chr12:117097408-117098192	MCF-7	breast:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
21	SP1	chr12:117097380-117098168	HCT-116	colon:	n/a	n/a
22	FOSL1	chr12:117097385-117098098	HCT-116	colon:	n/a	chr12:117097687-117097699
23	TCF7L2	chr12:117097542-117098121	HCT-116	colon:	n/a	chr12:117097762-117097776
24	GATA3	chr12:117097564-117098070	MCF-7	breast:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
25	GATA3	chr12:117097450-117098234	SK-N-SH	brain:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117095945..117098090-chr12:117099384..117101804,2	K562	blood:

Variant related genes	Relation type
ENSG00000257883	TF binding region
ENSG00000257883	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	esv1794859	chr12:117087267-117103935	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	esv3357908	chr12:117097394-117099942	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117093800-117100600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:117095600-117098600	Enhancers	Fetal Thymus	thymus
3	chr12:117095800-117098200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:117095800-117098200	Enhancers	Placenta	Placenta
5	chr12:117095800-117098400	Enhancers	Fetal Brain Male	brain
6	chr12:117096200-117098200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:117096400-117100200	Weak transcription	Left Ventricle	heart
8	chr12:117096400-117100200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:117096600-117099800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:117096600-117100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:117096600-117100200	Weak transcription	Brain Germinal Matrix	brain
12	chr12:117096600-117103200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:117096800-117098200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:117096800-117098200	Enhancers	Ovary	ovary
15	chr12:117096800-117098200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:117096800-117098400	Enhancers	A549	lung
17	chr12:117096800-117098400	Enhancers	HepG2	liver
18	chr12:117096800-117099200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:117096800-117099800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:117096800-117099800	Weak transcription	Fetal Intestine Large	intestine
21	chr12:117096800-117099800	Weak transcription	Fetal Intestine Small	intestine
22	chr12:117096800-117100000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:117096800-117100000	Weak transcription	Brain Substantia Nigra	brain
24	chr12:117096800-117100200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:117096800-117100200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:117096800-117100200	Weak transcription	Right Ventricle	heart
27	chr12:117096800-117100400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:117096800-117100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:117096800-117100400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:117096800-117100400	Weak transcription	HSMM	muscle
31	chr12:117096800-117100600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:117097000-117098200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:117097000-117098200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:117097000-117098200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:117097000-117098200	Enhancers	Adipose Nuclei	Adipose
36	chr12:117097000-117098200	Enhancers	NHDF-Ad	bronchial
37	chr12:117097000-117098200	Enhancers	Osteobl	bone
38	chr12:117097000-117098400	Enhancers	Liver	Liver
39	chr12:117097000-117098400	Enhancers	Hela-S3	cervix
40	chr12:117097000-117098400	Enhancers	NHLF	lung
41	chr12:117097000-117099800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:117097000-117099800	Weak transcription	Fetal Lung	lung
43	chr12:117097000-117100000	Weak transcription	Fetal Brain Female	brain
44	chr12:117097000-117100000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:117097000-117100200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:117097000-117100200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:117097000-117100200	Weak transcription	HSMMtube	muscle
48	chr12:117097000-117100400	Weak transcription	Esophagus	oesophagus
49	chr12:117097000-117100400	Enhancers	Pancreas	Pancrea
50	chr12:117097200-117098200	Enhancers	Right Atrium	heart

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