Variant report

Variant	nsv961403
Chromosome Location	chr2:46808120-46810006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:46808803-46808896	GM13976	blood:	n/a	n/a
2	CTCF	chr2:46808153-46808215	GM10266	blood:	n/a	n/a
3	CTCF	chr2:46809676-46809713	GM13976	blood:	n/a	n/a
4	CTCF	chr2:46809624-46809675	GM13976	blood:	n/a	n/a
5	CTCF	chr2:46808647-46808702	GM10266	blood:	n/a	n/a
6	GATA2	chr2:46809479-46809696	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr2:46809448-46809775	SH-SY5Y	brain:	n/a	n/a
8	POLR2A	chr2:46809177-46809229	ProgFib	skin:	n/a	n/a
9	POLR2A	chr2:46808534-46808792	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46806489..46808552-chr2:46842875..46845193,2	MCF-7	breast:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PIGF	hsa-miR-145-5p	chr2:46808611-46808633
2	RHOQ	hsa-miR-375	chr2:46808744-46808766
3	PIGF	hsa-miR-145-5p	chr2:46808648-46808670

Variant related genes	Relation type
ENSG00000250116	TF binding region
ENSG00000119878	chromatin interactions
ENSG00000151665	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61759911	chr2:46808155-46808156	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs566917162	chr2:46808167-46808168	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs55654131	chr2:46808168-46808169	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs141544914	chr2:46808218-46808219	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376417203	chr2:46808244-46808245	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs35227200	chr2:46808247-46808248	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs367889567	chr2:46808259-46808260	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549446550	chr2:46808283-46808284	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs55694648	chr2:46808297-46808298	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs374937930	chr2:46808298-46808299	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs149232659	chr2:46808303-46808304	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538794415	chr2:46808307-46808308	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553695421	chr2:46808311-46808312	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572259148	chr2:46808365-46808366	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531888006	chr2:46808369-46808370	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536547507	chr2:46808377-46808378	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs202122445	chr2:46808503-46808504	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549897439	chr2:46808556-46808557	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs3088236	chr2:46808560-46808561	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs1804166	chr2:46808566-46808567	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs554944769	chr2:46808567-46808568	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372737276	chr2:46808580-46808581	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs576489985	chr2:46808586-46808587	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs375902379	chr2:46808616-46808617	Weak transcription Strong transcription	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
25	rs565349060	chr2:46808621-46808622	Weak transcription Strong transcription	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
26	rs376861542	chr2:46808626-46808627	Weak transcription Strong transcription	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
27	rs138221049	chr2:46808632-46808633	Weak transcription Strong transcription	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
28	rs577280268	chr2:46808648-46808649	Weak transcription Strong transcription	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
29	rs541572382	chr2:46808658-46808659	Weak transcription Strong transcription	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
30	rs559692231	chr2:46808659-46808660	Weak transcription Strong transcription	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
31	rs182222238	chr2:46808679-46808680	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs186205049	chr2:46808710-46808711	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs144395549	chr2:46808802-46808803	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531181845	chr2:46808822-46808823	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs549383238	chr2:46808834-46808835	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs113300657	chr2:46808901-46808902	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571281202	chr2:46808913-46808914	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532112767	chr2:46808930-46808931	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532282615	chr2:46808954-46808955	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547516178	chr2:46808959-46808960	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565728328	chr2:46808969-46808970	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536484496	chr2:46809025-46809026	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554882407	chr2:46809032-46809033	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17035318	chr2:46809046-46809047	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547692447	chr2:46809064-46809065	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78431968	chr2:46809075-46809076	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537406909	chr2:46809122-46809123	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558688869	chr2:46809176-46809177	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546913230	chr2:46809183-46809184	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs190671413	chr2:46809190-46809191	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46771200-46812800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:46775600-46815800	Weak transcription	Fetal Brain Female	brain
3	chr2:46783600-46838000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:46785400-46809400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:46789400-46811200	Weak transcription	Colonic Mucosa	Colon
6	chr2:46790000-46842000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:46792200-46809200	Weak transcription	Esophagus	oesophagus
8	chr2:46796000-46812200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:46796600-46822000	Weak transcription	Fetal Brain Male	brain
10	chr2:46796800-46838000	Weak transcription	Fetal Kidney	kidney
11	chr2:46796800-46842800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:46797800-46814400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:46797800-46841000	Weak transcription	K562	blood
14	chr2:46798200-46838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:46801200-46808400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:46801200-46815000	Weak transcription	Psoas Muscle	Psoas
17	chr2:46802400-46815000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:46802400-46842600	Weak transcription	NHEK	skin
19	chr2:46802600-46809600	Strong transcription	Fetal Thymus	thymus
20	chr2:46802800-46837000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:46803200-46810800	Weak transcription	Brain Angular Gyrus	brain
22	chr2:46803400-46810600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:46803400-46811600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:46803400-46811800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:46803400-46811800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:46803400-46818800	Weak transcription	HepG2	liver
27	chr2:46803400-46842800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:46803600-46809200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:46803600-46811800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:46803600-46811800	Strong transcription	Osteobl	bone
31	chr2:46803800-46808400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:46803800-46808600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:46803800-46810600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:46803800-46811800	Strong transcription	Adipose Nuclei	Adipose
35	chr2:46804000-46810400	Weak transcription	HUVEC	blood vessel
36	chr2:46804200-46812200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:46804400-46811400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:46805200-46808200	Strong transcription	NHDF-Ad	bronchial
39	chr2:46805400-46808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:46805400-46808600	Strong transcription	NH-A	brain
41	chr2:46805600-46815600	Weak transcription	Fetal Lung	lung
42	chr2:46805600-46836400	Weak transcription	HSMM	muscle
43	chr2:46806000-46811000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:46806200-46810800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:46806400-46808200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:46806400-46808600	Strong transcription	Placenta	Placenta
47	chr2:46806400-46809400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:46806600-46813600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:46806600-46818800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:46807000-46808200	Strong transcription	Primary T cells fromperipheralblood	blood

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