Variant report

Variant	nsv508692
Chromosome Location	chr1:213309036-213330907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213330161..213332655-chr1:213493132..213495039,2	K562	blood:
2	chr1:213327061..213328810-chr1:213341483..213343914,2	K562	blood:
3	chr1:213297745..213301905-chr1:213305900..213310308,6	K562	blood:
4	chr1:213307189..213309993-chr1:213310511..213313013,2	K562	blood:
5	chr1:213307189..213309993-chr1:213310511..213313013,2	K562	blood:
6	chr1:213306346..213308829-chr1:213315366..213317859,2	K562	blood:
7	chr1:213330345..213332641-chr1:213343084..213346080,2	K562	blood:

No data

Extended variants
information (count: 753 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:753 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566930983	chr1:213309050-213309051	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575097228	chr1:213309051-213309052	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534052093	chr1:213309066-213309067	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78744667	chr1:213309070-213309071	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192293155	chr1:213309164-213309165	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576995496	chr1:213309170-213309171	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570314656	chr1:213309298-213309299	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183663680	chr1:213309327-213309328	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555997477	chr1:213309369-213309370	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11800340	chr1:213309386-213309387	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11799989	chr1:213309420-213309421	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559731860	chr1:213309471-213309472	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190770095	chr1:213309483-213309484	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545608395	chr1:213309497-213309498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146520938	chr1:213309523-213309524	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114921275	chr1:213309598-213309599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545806226	chr1:213309700-213309701	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141147011	chr1:213309733-213309734	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563130182	chr1:213309763-213309764	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530441255	chr1:213309793-213309794	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532558148	chr1:213309807-213309808	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142842234	chr1:213309808-213309809	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548570710	chr1:213309817-213309818	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566790248	chr1:213309866-213309867	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534281167	chr1:213309924-213309925	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371994723	chr1:213309938-213309939	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552428664	chr1:213309941-213309942	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115203754	chr1:213309963-213309964	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374883239	chr1:213309970-213309971	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367772575	chr1:213309971-213309972	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111514622	chr1:213310000-213310001	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35984043	chr1:213310079-213310080	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555960703	chr1:213310090-213310091	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567978522	chr1:213310181-213310182	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74691596	chr1:213310200-213310201	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7540597	chr1:213310279-213310280	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112473986	chr1:213310290-213310291	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111910812	chr1:213310296-213310297	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545873798	chr1:213310383-213310384	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557527705	chr1:213310411-213310412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552536473	chr1:213310512-213310513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576090866	chr1:213310518-213310519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544793771	chr1:213310532-213310533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57140665	chr1:213310551-213310552	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372143203	chr1:213310556-213310557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182774021	chr1:213310567-213310568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542570592	chr1:213310584-213310585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201960812	chr1:213310607-213310608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560538481	chr1:213310651-213310652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13374074	chr1:213310658-213310659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213309200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
3	chr1:213269600-213311800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:213271200-213309200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:213271600-213310200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:213281200-213309400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
8	chr1:213281400-213311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
10	chr1:213284600-213309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
13	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:213294000-213310000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:213297600-213309600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:213297600-213313600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:213297800-213309200	Weak transcription	Fetal Heart	heart
20	chr1:213297800-213309400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:213297800-213309600	Weak transcription	Gastric	stomach
22	chr1:213297800-213310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:213298200-213309400	Weak transcription	Psoas Muscle	Psoas
24	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:213301000-213374800	Weak transcription	HSMM	muscle
26	chr1:213301200-213309200	Weak transcription	K562	blood
27	chr1:213301200-213311800	Weak transcription	Fetal Lung	lung
28	chr1:213301400-213311800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:213301800-213313000	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:213302800-213317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:213303800-213309200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:213306000-213309200	Weak transcription	HepG2	liver
34	chr1:213306000-213311200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:213306200-213309400	Weak transcription	HSMMtube	muscle
36	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:213306600-213323400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:213306800-213309400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:213307200-213319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:213307600-213309800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:213308000-213309600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:213308000-213309600	Enhancers	Brain Angular Gyrus	brain
43	chr1:213308000-213309800	Enhancers	Brain Substantia Nigra	brain
44	chr1:213308000-213310000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:213308200-213309600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:213308200-213309800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:213308200-213309800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:213308200-213309800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:213308200-213309800	Enhancers	NHDF-Ad	bronchial
50	chr1:213308200-213309800	Enhancers	Osteobl	bone

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