Variant report

Variant	rs191878901
Chromosome Location	chr2:113470197-113470198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113414501..113417087-chr2:113468688..113471406,2	K562	blood:
2	chr2:113462515..113465478-chr2:113468024..113470345,2	K562	blood:
3	chr2:113468894..113470919-chr2:113476217..113478885,2	MCF-7	breast:
4	chr2:113401638..113406636-chr2:113469377..113473888,9	K562	blood:
5	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
6	chr2:113408522..113411073-chr2:113469156..113471009,2	K562	blood:
7	chr2:113468636..113470784-chr2:113471239..113473518,2	MCF-7	breast:
8	chr2:113469794..113474486-chr2:113475351..113478319,4	K562	blood:
9	chr2:113458404..113460724-chr2:113468297..113470571,2	K562	blood:
10	chr2:113465999..113468016-chr2:113469384..113470949,2	K562	blood:
11	chr2:113415587..113417242-chr2:113468748..113471406,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237753	Chromatin interaction
ENSG00000144136	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3458160	chr2:113460280-113484749	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3458161	chr2:113460322-113484724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3458162	chr2:113460460-113484652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv441775	chr2:113462399-113478887	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2755193	chr2:113467769-113478769	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv2756942	chr2:113469235-113478889	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2759084	chr2:113469235-113478889	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113465200-113470600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:113465400-113470400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:113465400-113470600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:113465400-113470600	Weak transcription	HMEC	breast
6	chr2:113465400-113470600	Weak transcription	NHEK	skin
7	chr2:113465600-113470400	Enhancers	K562	blood
8	chr2:113465800-113470600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:113467600-113470600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:113467800-113471000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:113468000-113470400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:113468800-113470600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:113468800-113470600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:113468800-113470800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:113468800-113472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:113469000-113470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:113469000-113470600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:113469000-113474600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:113469200-113470600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:113469400-113471000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:113469400-113484200	Weak transcription	Right Atrium	heart
22	chr2:113469600-113471400	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:113469800-113471000	Enhancers	Fetal Kidney	kidney
24	chr2:113469800-113471600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:113470000-113470600	Enhancers	GM12878-XiMat	blood
26	chr2:113470000-113471400	Enhancers	NHDF-Ad	bronchial
27	chr2:113470000-113471800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:113470000-113471800	Enhancers	Spleen	Spleen

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