Variant report

Variant	rs111652387
Chromosome Location	chr5:177630666-177630667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:177630071-177631797	K562	blood:	n/a	n/a

No data

(count:16 , 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	chr5:177025539..177028252-chr5:177630597..177632555,2	K562	blood:
5	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
6	chr5:172410801..172412903-chr5:177629847..177631415,2	MCF-7	breast:
7	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
8	chr5:176980028..176981859-chr5:177628460..177630883,2	K562	blood:
9	chr5:177556137..177558058-chr5:177629793..177631358,2	MCF-7	breast:
10	chr5:177572705..177577722-chr5:177630592..177633512,5	MCF-7	breast:
11	chr17:59477135..59479003-chr5:177630296..177633273,2	MCF-7	breast:
12	chr5:177578478..177582579-chr5:177629428..177633237,12	MCF-7	breast:
13	chr5:177579578..177582486-chr5:177629664..177632966,4	K562	blood:
14	chr5:177630203..177632374-chr5:179049408..179051401,2	MCF-7	breast:
15	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:
16	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:

No data

Variant related genes	Relation type
HNRNPAB	TF binding region
ENSG00000169045	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000113240	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000252464	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000113732	Chromatin interaction
ENSG00000272459	Chromatin interaction
ENSG00000145916	Chromatin interaction
ENSG00000251211	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	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
9	esv3357614	chr5:177630371-177632919	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177621600-177630800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:177622400-177630800	Weak transcription	Liver	Liver
3	chr5:177624000-177630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:177624200-177630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:177624200-177630800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:177627600-177630800	Weak transcription	Fetal Lung	lung
7	chr5:177627800-177630800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:177629000-177630800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:177629000-177630800	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr5:177629200-177630800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:177629200-177630800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:177629200-177630800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:177629200-177630800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:177629200-177630800	Weak transcription	Colonic Mucosa	Colon
15	chr5:177629200-177630800	Weak transcription	Lung	lung
16	chr5:177629200-177630800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:177629200-177630800	Weak transcription	A549	lung
18	chr5:177629200-177630800	Weak transcription	NH-A	brain
19	chr5:177629200-177630800	Weak transcription	NHEK	skin
20	chr5:177629200-177630800	Weak transcription	NHLF	lung
21	chr5:177629400-177630800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:177629400-177630800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:177629400-177630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:177629400-177630800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:177629400-177630800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:177629400-177630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:177629400-177630800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:177629400-177630800	Weak transcription	Esophagus	oesophagus
29	chr5:177629400-177630800	Weak transcription	HMEC	breast
30	chr5:177629400-177630800	Weak transcription	Osteobl	bone
31	chr5:177629600-177630800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:177629800-177630800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:177629800-177630800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:177630000-177630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:177630200-177630800	Weak transcription	Spleen	Spleen
36	chr5:177630200-177630800	Active TSS	HSMM	muscle
37	chr5:177630200-177632400	Active TSS	K562	blood
38	chr5:177630200-177632600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr5:177630200-177632600	Active TSS	Hela-S3	cervix
40	chr5:177630400-177630800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:177630600-177630800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:177630600-177630800	Enhancers	Primary B cells from cord blood	blood
43	chr5:177630600-177630800	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:177630600-177630800	Enhancers	Primary T cells from cord blood	blood
45	chr5:177630600-177630800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr5:177630600-177630800	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr5:177630600-177630800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:177630600-177630800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr5:177630600-177630800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr5:177630600-177630800	Enhancers	Brain Cingulate Gyrus	brain

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