Variant report

Variant	rs567535183
Chromosome Location	chr3:118958662-118958663
allele	C/T
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	chr3:118958207-118960535	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:118958319-118959995	IMR90	lung:	n/a	n/a
3	GATA1	chr3:118958611-118960500	PBDE	blood:	n/a	chr3:118958675-118958692
4	CHD1	chr3:118958405-118960749	IMR90	lung:	n/a	chr3:118959806-118959816
5	POLR2A	chr3:118958614-118960088	HepG2	liver:	n/a	n/a
6	MXI1	chr3:118958090-118960205	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr3:118958262-118960665	HepG2	liver:	n/a	n/a
8	CTCF	chr3:118958640-118958790	Caco-2	colon:	n/a	n/a
9	POLR2A	chr3:118958647-118959015	K562	blood:	n/a	n/a
10	GATA2	chr3:118958577-118960072	SH-SY5Y	brain:	n/a	chr3:118958675-118958692
11	TCF12	chr3:118958651-118960732	A549	lung:	n/a	n/a
12	RAD21	chr3:118958647-118960912	SK-N-SH	brain:	n/a	chr3:118960499-118960518 chr3:118960508-118960517 chr3:118960503-118960517
13	SPI1	chr3:118958371-118958666	GM12891	blood:	n/a	chr3:118958480-118958493 chr3:118958482-118958491

No.	Distal block	Cell Line	Cell type
1	chr3:118957609..118959509-chr3:119217273..119218823,2	MCF-7	breast:
2	chr3:118944759..118947412-chr3:118958236..118960502,3	MCF-7	breast:
3	chr3:118952753..118957545-chr3:118958102..118959880,7	K562	blood:
4	chr3:118948357..118951865-chr3:118958522..118961643,4	MCF-7	breast:
5	chr3:118863527..118866220-chr3:118958408..118962544,4	MCF-7	breast:
6	chr3:118903933..118906787-chr3:118956775..118959458,2	MCF-7	breast:
7	chr3:118948409..118952425-chr3:118955700..118962526,10	K562	blood:
8	chr3:118943120..118945710-chr3:118958108..118960423,2	K562	blood:
9	chr3:118954516..118958209-chr3:118958247..118961418,8	MCF-7	breast:

Variant related genes	Relation type
B4GALT4	TF binding region
ENSG00000163424	Chromatin interaction
ENSG00000240254	Chromatin interaction
ENSG00000144847	Chromatin interaction
ENSG00000121578	Chromatin interaction
ENSG00000113845	Chromatin interaction
ENSG00000114638	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3405597	chr3:118958287-118960835	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:118949400-118958800	Weak transcription	Lung	lung
3	chr3:118949600-118958800	Weak transcription	Gastric	stomach
4	chr3:118949800-118958800	Weak transcription	Spleen	Spleen
5	chr3:118951600-118958800	Weak transcription	Esophagus	oesophagus
6	chr3:118952000-118958800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:118956000-118958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:118956000-118958800	Weak transcription	Pancreas	Pancrea
9	chr3:118956800-118960000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:118956800-118960000	Active TSS	A549	lung
11	chr3:118957200-118958800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr3:118957200-118959400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:118957200-118960200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr3:118957400-118959400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:118957400-118960200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:118957400-118960200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr3:118957400-118960200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:118957400-118960200	Active TSS	NHDF-Ad	bronchial
19	chr3:118957600-118958800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr3:118957600-118958800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr3:118957600-118958800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr3:118957600-118960000	Active TSS	Right Ventricle	heart
23	chr3:118957600-118960200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr3:118957600-118960200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr3:118957600-118960200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr3:118957600-118960200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr3:118957600-118960200	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr3:118957600-118960200	Active TSS	Right Atrium	heart
29	chr3:118957600-118960400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr3:118957800-118958800	Enhancers	Primary B cells from cord blood	blood
31	chr3:118957800-118958800	Enhancers	Brain Angular Gyrus	brain
32	chr3:118957800-118958800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:118957800-118958800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr3:118957800-118959800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:118957800-118959800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:118957800-118960000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr3:118957800-118960000	Active TSS	HSMM	muscle
38	chr3:118957800-118960200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr3:118958000-118958800	Weak transcription	Fetal Heart	heart
40	chr3:118958000-118959400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr3:118958000-118959400	Flanking Active TSS	Liver	Liver
42	chr3:118958000-118959800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:118958000-118959800	Active TSS	Fetal Intestine Large	intestine
44	chr3:118958000-118959800	Active TSS	HMEC	breast
45	chr3:118958000-118960000	Active TSS	Fetal Stomach	stomach
46	chr3:118958000-118960000	Active TSS	Placenta Amnion	Placenta Amnion
47	chr3:118958000-118960000	Active TSS	GM12878-XiMat	blood
48	chr3:118958000-118960200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr3:118958000-118960200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:118958200-118958800	Flanking Active TSS	Fetal Lung	lung

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