Variant report

Variant	rs57753240
Chromosome Location	chr1:174907992-174907993
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	chr1:174896436..174898470-chr1:174907347..174910296,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55687955	0.81[AFR][1000 genomes]
rs55736228	1.00[AFR][1000 genomes]
rs60002580	1.00[AFR][1000 genomes]
rs74126864	0.85[AFR][1000 genomes]
rs74126867	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1794782	chr1:174900761-174925112	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874000-174910000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
4	chr1:174886400-174911600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:174891800-174908600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:174897400-174910000	Weak transcription	Gastric	stomach
7	chr1:174898800-174910600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:174899800-174915200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:174900800-174911000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:174901000-174909400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:174901000-174922200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:174901800-174908000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:174902200-174909000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:174902600-174908400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:174903800-174911000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:174905800-174910000	Weak transcription	Pancreas	Pancrea
17	chr1:174905800-174910600	Weak transcription	HepG2	liver
18	chr1:174905800-174911600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:174907000-174908600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:174907200-174908000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr1:174907200-174908000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:174907200-174908000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:174907200-174908000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:174907200-174908000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:174907200-174908000	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:174907200-174908000	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:174907200-174908200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:174907200-174908200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:174907200-174908200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:174907200-174908200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:174907200-174908200	Enhancers	Liver	Liver
32	chr1:174907200-174908200	Enhancers	Fetal Intestine Large	intestine
33	chr1:174907200-174908200	Enhancers	Fetal Intestine Small	intestine
34	chr1:174907200-174908200	Enhancers	Fetal Kidney	kidney
35	chr1:174907200-174908200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr1:174907200-174908200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:174907200-174908200	Flanking Active TSS	Dnd41	blood
38	chr1:174907200-174908600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr1:174907200-174910400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:174907400-174908000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr1:174907400-174908000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:174907400-174908000	Active TSS	HSMMtube	muscle
43	chr1:174907400-174908200	Enhancers	HSMM	muscle
44	chr1:174907600-174908000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr1:174907600-174908000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr1:174907600-174908000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr1:174907600-174908000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr1:174907600-174908000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:174907600-174908000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr1:174907600-174908000	Active TSS	Adipose Nuclei	Adipose

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