Variant report

Variant	rs2913817
Chromosome Location	chr5:177630040-177630041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177629858-177630041	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:177629875-177630048	Hela-S3	cervix:	n/a	n/a
3	EGR1	chr5:177629990-177630233	K562	blood:	n/a	n/a
4	JUND	chr5:177629930-177630314	K562	blood:	n/a	n/a
5	CHD2	chr5:177629787-177630387	K562	blood:	n/a	n/a
6	POLR2A	chr5:177629852-177630052	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr5:177629975-177630214	K562	blood:	n/a	chr5:177630002-177630010
8	CUX1	chr5:177629961-177630074	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:177629955-177630103	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr5:177629865-177630334	K562	blood:	n/a	n/a
11	POLR2A	chr5:177629654-177630326	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177579489..177582257-chr5:177628656..177632410,3	K562	blood:
2	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
3	chr5:177629964..177631778-chr5:178045699..178047442,2	K562	blood:
4	chr5:172410801..172412903-chr5:177629847..177631415,2	MCF-7	breast:
5	chr5:176980028..176981859-chr5:177628460..177630883,2	K562	blood:
6	chr5:177556137..177558058-chr5:177629793..177631358,2	MCF-7	breast:
7	chr5:177578478..177582579-chr5:177629428..177633237,12	MCF-7	breast:
8	chr5:177579578..177582486-chr5:177629664..177632966,4	K562	blood:
9	chr5:177573926..177577755-chr5:177626660..177630083,3	MCF-7	breast:
10	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:

No data

Variant related genes	Relation type
HNRNPAB	TF binding region
ENSG00000113240	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000145916	Chromatin interaction
ENSG00000252464	Chromatin interaction
ENSG00000272459	Chromatin interaction
ENSG00000113732	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2913746	0.85[AMR][1000 genomes]
rs3812089	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv1017664	chr5:177578194-177633116	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
5	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
6	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
8	esv3404661	chr5:177629746-177634244	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2913817	SQSTM1	cis	cerebellum	SCAN
rs2913817	UNC5A	cis	parietal	SCAN
rs2913817	DBN1	cis	cerebellum	SCAN
rs2913817	MGAT4B	cis	cerebellum	SCAN
rs2913817	NSD1	cis	parietal	SCAN
rs2913817	ZNF454	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177621600-177630800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:177622200-177630200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:177622400-177630800	Weak transcription	Liver	Liver
4	chr5:177624000-177630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:177624200-177630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:177624200-177630800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:177627400-177630600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:177627600-177630800	Weak transcription	Fetal Lung	lung
9	chr5:177627800-177630600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:177627800-177630800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:177628400-177630200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:177628600-177630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:177628800-177630200	Enhancers	Spleen	Spleen
14	chr5:177629000-177630800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:177629000-177630800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr5:177629200-177630200	Weak transcription	HSMM	muscle
17	chr5:177629200-177630800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:177629200-177630800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:177629200-177630800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:177629200-177630800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:177629200-177630800	Weak transcription	Colonic Mucosa	Colon
22	chr5:177629200-177630800	Weak transcription	Lung	lung
23	chr5:177629200-177630800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:177629200-177630800	Weak transcription	A549	lung
25	chr5:177629200-177630800	Weak transcription	NH-A	brain
26	chr5:177629200-177630800	Weak transcription	NHEK	skin
27	chr5:177629200-177630800	Weak transcription	NHLF	lung
28	chr5:177629400-177630600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:177629400-177630800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:177629400-177630800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:177629400-177630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:177629400-177630800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:177629400-177630800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:177629400-177630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:177629400-177630800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:177629400-177630800	Weak transcription	Esophagus	oesophagus
37	chr5:177629400-177630800	Weak transcription	HMEC	breast
38	chr5:177629400-177630800	Weak transcription	Osteobl	bone
39	chr5:177629600-177630600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:177629600-177630600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:177629600-177630800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:177629800-177630200	Flanking Active TSS	Hela-S3	cervix
43	chr5:177629800-177630200	Flanking Active TSS	K562	blood
44	chr5:177629800-177630800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:177629800-177630800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:177630000-177630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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