Variant report

Variant	rs375347992
Chromosome Location	chr2:111883112-111883113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111881657..111883208-chr2:111900026..111902115,2	K562	blood:
2	chr2:111881798..111884548-chr3:37284411..37286120,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176354	Chromatin interaction
ENSG00000270194	Chromatin interaction
ENSG00000144674	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3458156	chr2:111883046-111886204	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3458158	chr2:111883092-111886185	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111883400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:111881200-111883600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:111881200-111883800	Weak transcription	NHDF-Ad	bronchial
4	chr2:111881200-111888400	Weak transcription	HUVEC	blood vessel
5	chr2:111881200-111890800	Weak transcription	Right Ventricle	heart
6	chr2:111881200-111893600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:111881200-111894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:111881200-111909600	Weak transcription	NHLF	lung
10	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:111881400-111883200	Strong transcription	NHEK	skin
12	chr2:111881400-111883400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:111881400-111886400	Weak transcription	Fetal Kidney	kidney
14	chr2:111881400-111891000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:111881600-111883200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:111881600-111883400	Strong transcription	Esophagus	oesophagus
17	chr2:111881600-111883600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:111881600-111884000	Genic enhancers	Liver	Liver
19	chr2:111881600-111884600	Genic enhancers	HepG2	liver
20	chr2:111881600-111885000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:111881600-111885000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:111881600-111887600	Strong transcription	Placenta	Placenta
23	chr2:111881600-111888200	Strong transcription	A549	lung
24	chr2:111881600-111888400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:111881600-111888600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:111881600-111889800	Strong transcription	K562	blood
27	chr2:111881600-111893000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:111881600-111893200	Weak transcription	Fetal Brain Female	brain
29	chr2:111881600-111897200	Weak transcription	Stomach Mucosa	stomach
30	chr2:111881600-111897400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:111881600-111901000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:111881600-111904200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:111881800-111883200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:111881800-111883200	Weak transcription	GM12878-XiMat	blood
35	chr2:111881800-111883400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:111881800-111883400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:111881800-111883400	Genic enhancers	Fetal Intestine Small	intestine
38	chr2:111881800-111883400	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:111881800-111883600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:111881800-111883600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:111881800-111883600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:111881800-111883600	Strong transcription	Adipose Nuclei	Adipose
43	chr2:111881800-111883600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:111881800-111883800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:111881800-111883800	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:111881800-111883800	Strong transcription	HMEC	breast
47	chr2:111881800-111884200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:111881800-111885000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:111881800-111885200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:111881800-111885200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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