Variant report

Variant	rs537101035
Chromosome Location	chr2:47217495-47217496
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	SMC3	chr2:47211793-47217504	SK-N-SH	brain:	n/a	chr2:47217377-47217391 chr2:47214316-47214330 chr2:47215216-47215224 chr2:47214380-47214394 chr2:47215366-47215376
2	RAD21	chr2:47212138-47217562	SK-N-SH	brain:	n/a	chr2:47214319-47214328 chr2:47214380-47214394 chr2:47214430-47214443 chr2:47214315-47214334 chr2:47213604-47213614 chr2:47214317-47214324 chr2:47213584-47213596 chr2:47216226-47216245 chr2:47213604-47213616 chr2:47214379-47214398 chr2:47214318-47214331 chr2:47217181-47217195 chr2:47214320-47214332

No.	Distal block	Cell Line	Cell type
1	chr2:47144648..47146323-chr2:47215712..47217737,2	MCF-7	breast:
2	chr2:47217153..47219459-chr2:47381872..47383451,2	K562	blood:
3	chr2:47209357..47211157-chr2:47216226..47218870,3	K562	blood:
4	chr2:47210303..47217706-chr2:47402135..47406405,13	MCF-7	breast:

Variant related genes	Relation type
TTC7A	TF binding region
ENSG00000143933	Chromatin interaction
ENSG00000239605	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv581750	chr2:47207665-47229953	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv517929	chr2:47217094-47243312	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47196600-47227800	Strong transcription	Dnd41	blood
2	chr2:47208600-47219200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr2:47209600-47218200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:47211400-47217600	Enhancers	Right Atrium	heart
5	chr2:47211800-47218000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:47211800-47218000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:47212000-47217600	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:47212200-47218200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:47212400-47217600	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:47213000-47218000	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:47213000-47221600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:47213400-47217600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:47213400-47218000	Enhancers	Brain Angular Gyrus	brain
14	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:47213800-47218200	Enhancers	Ovary	ovary
16	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:47214200-47221000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:47214200-47221200	Weak transcription	Small Intestine	intestine
19	chr2:47214200-47221600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:47214200-47221600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:47214200-47231000	Weak transcription	K562	blood
22	chr2:47214200-47235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:47214400-47217600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:47214600-47218400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:47214600-47219200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:47214600-47220000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:47214600-47220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:47214600-47221200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:47214600-47221600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
31	chr2:47214800-47217600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:47214800-47219000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:47214800-47221600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:47214800-47221600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:47214800-47228600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:47214800-47229000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:47214800-47229400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:47214800-47229600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:47214800-47230400	Strong transcription	Osteobl	bone
40	chr2:47214800-47231200	Weak transcription	HUVEC	blood vessel
41	chr2:47214800-47233400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:47214800-47237200	Strong transcription	Primary T cells from cord blood	blood
43	chr2:47214800-47239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:47215000-47224200	Strong transcription	GM12878-XiMat	blood
45	chr2:47215000-47227200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:47215200-47220800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:47215200-47221800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:47215200-47227800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:47215400-47217800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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