Variant report

Variant	nsv539936
Chromosome Location	chr9:2724666-2780665
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:12)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2321723..2322570-chr9:2728160..2728820,2	MCF-7	breast:
2	chr9:2758593..2762360-chr9:2765303..2768910,5	K562	blood:
3	chr9:2748687..2751294-chr9:2757879..2760318,3	MCF-7	breast:
4	chr9:2729748..2733202-chr9:2733269..2736748,3	MCF-7	breast:
5	chr9:2748687..2751294-chr9:2757879..2760318,3	MCF-7	breast:
6	chr9:2776529..2778337-chr9:2809907..2812711,2	K562	blood:
7	chr9:2767181..2768946-chr9:2770729..2772819,2	K562	blood:
8	chr9:2335749..2336338-chr9:2727775..2728597,3	MCF-7	breast:
9	chr9:2729748..2733202-chr9:2733269..2736748,3	MCF-7	breast:
10	chr9:2739072..2739783-chr9:2800448..2801064,2	MCF-7	breast:
11	chr9:2758593..2762360-chr9:2765303..2768910,5	K562	blood:
12	chr9:2767181..2768946-chr9:2770729..2772819,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNV2-4	chr9:2770480-2771317	NONHSAT130009
2	lnc-KCNV2-4	chr9:2763773-2763907	NONHSAT130009
3	lnc-KCNV2-4	chr9:2769007-2769707	NONHSAT130009
4	lnc-RFX3-3	chr9:2779834-2780490	NONHSAT130010
5	lnc-RFX3-4	chr9:2759256-2760832	NONHSAT130008

No data

Extended variants
information (count: 2812 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2812 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546405000	chr9:2724675-2724676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553645774	chr9:2724687-2724688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556910384	chr9:2724707-2724708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573575044	chr9:2724742-2724743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181198183	chr9:2724770-2724771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79785730	chr9:2724803-2724804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558190672	chr9:2724832-2724833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141446171	chr9:2724848-2724849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564188937	chr9:2724865-2724866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146971002	chr9:2724896-2724897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546378154	chr9:2724902-2724903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73639029	chr9:2724986-2724987	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369744100	chr9:2724989-2724990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12351591	chr9:2724996-2724997	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75429824	chr9:2725018-2725019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542221409	chr9:2725047-2725048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12352503	chr9:2725058-2725059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10967743	chr9:2725105-2725106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10967744	chr9:2725136-2725137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74491851	chr9:2725140-2725141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553507940	chr9:2725150-2725151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573437793	chr9:2725151-2725152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113638783	chr9:2725171-2725172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186696773	chr9:2725218-2725219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555999242	chr9:2725277-2725278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1006698	chr9:2725283-2725284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544177266	chr9:2725307-2725308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142052468	chr9:2725319-2725320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77886318	chr9:2725339-2725340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572558807	chr9:2725388-2725389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539892266	chr9:2725392-2725393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10967745	chr9:2725399-2725400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541521323	chr9:2725414-2725415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530833882	chr9:2725415-2725416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10967746	chr9:2725429-2725430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548926674	chr9:2725455-2725456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367888232	chr9:2725470-2725471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10967748	chr9:2725471-2725472	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191516537	chr9:2725546-2725547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114673090	chr9:2725551-2725552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553934531	chr9:2725559-2725560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10967749	chr9:2725562-2725563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560064973	chr9:2725564-2725565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143095660	chr9:2725568-2725569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539757900	chr9:2725575-2725576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148187296	chr9:2725579-2725580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536402029	chr9:2725590-2725591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76044796	chr9:2725628-2725629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376043006	chr9:2725634-2725635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377033936	chr9:2725673-2725674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
Melanoma	18172304	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
Ovarian cancer	21720365	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
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	20967226	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:1489 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2700600-2727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:2701600-2727800	Weak transcription	Pancreas	Pancrea
3	chr9:2714800-2727800	Weak transcription	Ovary	ovary
4	chr9:2715800-2727800	Weak transcription	Osteobl	bone
5	chr9:2716200-2729200	Weak transcription	Right Ventricle	heart
6	chr9:2716400-2727800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:2717000-2725400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:2717400-2725200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:2718000-2772800	Weak transcription	Aorta	Aorta
10	chr9:2718400-2728200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:2719000-2725400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:2719000-2726400	Weak transcription	Fetal Brain Male	brain
13	chr9:2719000-2726600	Weak transcription	Esophagus	oesophagus
14	chr9:2719000-2727800	Weak transcription	Gastric	stomach
15	chr9:2719200-2726600	Weak transcription	NHLF	lung
16	chr9:2719200-2727800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:2719200-2768400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:2719200-2768400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:2719600-2728000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:2720000-2727400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr9:2720000-2727800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:2720600-2728200	Weak transcription	A549	lung
23	chr9:2720600-2731800	Weak transcription	Primary T cells from cord blood	blood
24	chr9:2720800-2726400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:2721400-2727800	Weak transcription	HepG2	liver
26	chr9:2722600-2725400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:2722800-2724800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:2722800-2725600	Enhancers	Fetal Kidney	kidney
29	chr9:2723000-2725000	Weak transcription	Fetal Lung	lung
30	chr9:2723000-2727800	Weak transcription	Left Ventricle	heart
31	chr9:2723000-2729200	Weak transcription	Lung	lung
32	chr9:2723200-2725400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:2723200-2725600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:2723200-2726000	Weak transcription	Fetal Stomach	stomach
35	chr9:2723200-2726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:2723200-2727000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:2723200-2727800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:2723200-2727800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr9:2723200-2727800	Weak transcription	Psoas Muscle	Psoas
40	chr9:2723200-2728000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:2723200-2758000	Weak transcription	HSMM	muscle
42	chr9:2723200-2768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:2723600-2725400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:2723600-2725800	Weak transcription	Adipose Nuclei	Adipose
45	chr9:2723600-2727800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:2723800-2725200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:2723800-2727400	Weak transcription	NHDF-Ad	bronchial
48	chr9:2723800-2728000	Weak transcription	Brain Hippocampus Middle	brain
49	chr9:2724000-2725800	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:2724000-2726600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links