Variant report

Variant	nsv1018321
Chromosome Location	chr9:1444746-1556848
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
2	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
3	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
4	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
5	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
6	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
7	chr9:1017972..1018656-chr9:1527877..1528623,2	MCF-7	breast:
8	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
9	chr9:1459863..1460538-chr9:1837555..1838175,2	MCF-7	breast:
10	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
11	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
12	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
13	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
14	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
15	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
16	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
17	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
18	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
19	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:

No data

Extended variants
information (count: 5847 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:5847 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9406475	chr9:1444746-1444747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534669249	chr9:1444761-1444762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554386125	chr9:1444768-1444769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190931446	chr9:1444770-1444771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568596719	chr9:1444774-1444775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537260135	chr9:1444802-1444803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113242620	chr9:1444954-1444955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113474279	chr9:1444997-1444998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557574720	chr9:1445012-1445013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577467149	chr9:1445013-1445014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143903032	chr9:1445027-1445028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552935066	chr9:1445046-1445047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561613804	chr9:1445076-1445077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572918142	chr9:1445134-1445135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146993397	chr9:1445144-1445145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369865109	chr9:1445170-1445171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562049964	chr9:1445191-1445192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138130430	chr9:1445202-1445203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74901405	chr9:1445227-1445228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563524602	chr9:1445243-1445244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532430420	chr9:1445257-1445258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143600064	chr9:1445277-1445278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182280824	chr9:1445281-1445282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559361048	chr9:1445291-1445292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78095073	chr9:1445296-1445297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113598617	chr9:1445358-1445359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191068470	chr9:1445366-1445367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537199270	chr9:1445377-1445378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528213939	chr9:1445382-1445383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144146750	chr9:1445393-1445394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs626350	chr9:1445431-1445432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571227814	chr9:1445455-1445456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375008425	chr9:1445517-1445518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530471275	chr9:1445528-1445529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs625929	chr9:1445542-1445543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553274334	chr9:1445553-1445554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572860976	chr9:1445563-1445564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570629720	chr9:1445604-1445605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535471353	chr9:1445616-1445617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555777684	chr9:1445634-1445635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74832934	chr9:1445639-1445640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567257116	chr9:1445654-1445655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183264551	chr9:1445663-1445664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563303634	chr9:1445721-1445722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577131298	chr9:1445770-1445771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188462216	chr9:1445777-1445778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs614575	chr9:1445784-1445785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528438939	chr9:1445791-1445792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561824784	chr9:1445824-1445825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377597438	chr9:1445838-1445839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1415400-1452800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1445000-1445800	Enhancers	Fetal Lung	lung
3	chr9:1445000-1445800	Enhancers	Fetal Muscle Leg	muscle
4	chr9:1445800-1446200	Weak transcription	Fetal Lung	lung
5	chr9:1446200-1447000	Enhancers	Fetal Lung	lung
6	chr9:1452800-1455400	Enhancers	Adipose Nuclei	Adipose
7	chr9:1453600-1454800	Enhancers	Brain Substantia Nigra	brain
8	chr9:1453600-1455400	Enhancers	HepG2	liver
9	chr9:1453800-1454400	Enhancers	Pancreas	Pancrea
10	chr9:1453800-1454600	Enhancers	Brain Anterior Caudate	brain
11	chr9:1453800-1455000	Enhancers	Brain Cingulate Gyrus	brain
12	chr9:1453800-1455000	Enhancers	Brain Hippocampus Middle	brain
13	chr9:1453800-1455000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr9:1453800-1455000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:1454000-1454600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:1454000-1455000	Enhancers	Brain Angular Gyrus	brain
17	chr9:1454000-1455000	Enhancers	Fetal Muscle Leg	muscle
18	chr9:1454400-1454800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:1454600-1454800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:1454800-1455000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:1454800-1456200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:1455000-1455600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:1455000-1456200	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:1455000-1457200	Enhancers	HSMMtube	muscle
25	chr9:1455400-1460400	Weak transcription	HepG2	liver
26	chr9:1455600-1456000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:1456200-1457000	Enhancers	Fetal Muscle Leg	muscle
28	chr9:1456400-1456600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:1456800-1457000	Enhancers	NHEK	skin
30	chr9:1457200-1458200	Weak transcription	NHEK	skin
31	chr9:1458200-1458600	Enhancers	HSMM	muscle
32	chr9:1458200-1459000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:1458200-1459200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:1458200-1459400	Enhancers	NHEK	skin
35	chr9:1458400-1459000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:1459200-1459400	Enhancers	HSMMtube	muscle
37	chr9:1460400-1460800	Enhancers	HepG2	liver
38	chr9:1460600-1460800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr9:1461000-1462600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:1461800-1462200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr9:1461800-1462800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:1462600-1462800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr9:1463000-1464400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr9:1463600-1463800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr9:1465600-1490800	Weak transcription	Adipose Nuclei	Adipose
46	chr9:1469000-1472000	Enhancers	GM12878-XiMat	blood
47	chr9:1479000-1479400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:1479000-1479400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr9:1489200-1490000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:1489400-1490000	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links