Variant report

Variant	nsv466087
Chromosome Location	chr9:2746548-2790307
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:9)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:2748687..2751294-chr9:2757879..2760318,3	MCF-7	breast:
2	chr9:2748687..2751294-chr9:2757879..2760318,3	MCF-7	breast:
3	chr9:2758593..2762360-chr9:2765303..2768910,5	K562	blood:
4	chr9:2787135..2789034-chr9:2791407..2793364,2	K562	blood:
5	chr9:2758593..2762360-chr9:2765303..2768910,5	K562	blood:
6	chr9:2767181..2768946-chr9:2770729..2772819,2	K562	blood:
7	chr9:2776529..2778337-chr9:2809907..2812711,2	K562	blood:
8	chr9:2767181..2768946-chr9:2770729..2772819,2	K562	blood:
9	chr9:2787061..2789950-chr9:2798613..2800282,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNV2-4	chr9:2769007-2769707	NONHSAT130009
2	lnc-KCNV2-4	chr9:2770480-2771317	NONHSAT130009
3	lnc-RFX3-3	chr9:2783674-2784301	NONHSAT130010
4	lnc-KCNV2-4	chr9:2763773-2763907	NONHSAT130009
5	lnc-RFX3-4	chr9:2759256-2760832	NONHSAT130008
6	lnc-RFX3-3	chr9:2779834-2780490	NONHSAT130010
7	lnc-RFX3-3	chr9:2785525-2786518	NONHSAT130010
8	lnc-RFX3-3	chr9:2783604-2783616	NONHSAT130010

No data

Extended variants
information (count: 2152 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2152 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10812577	chr9:2746548-2746549	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371022894	chr9:2746549-2746550	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571317570	chr9:2746570-2746571	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7852307	chr9:2746594-2746595	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs80332864	chr9:2746623-2746624	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58176784	chr9:2746686-2746687	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567738916	chr9:2746717-2746718	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536886709	chr9:2746781-2746782	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112990147	chr9:2746803-2746804	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150348033	chr9:2746806-2746807	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184990801	chr9:2746811-2746812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10812579	chr9:2746834-2746835	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558550177	chr9:2746868-2746869	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189929894	chr9:2746869-2746870	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181496591	chr9:2746910-2746911	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186180085	chr9:2746929-2746930	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574535336	chr9:2746930-2746931	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369731531	chr9:2746935-2746936	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543648745	chr9:2746945-2746946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36035556	chr9:2746946-2746947	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532234849	chr9:2746951-2746952	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7871038	chr9:2746995-2746996	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375288017	chr9:2746997-2746998	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564908983	chr9:2747018-2747019	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189282707	chr9:2747024-2747025	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547560308	chr9:2747031-2747032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567789582	chr9:2747056-2747057	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367873047	chr9:2747085-2747086	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62534361	chr9:2747128-2747129	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560393887	chr9:2747131-2747132	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34062857	chr9:2747164-2747165	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550354372	chr9:2747235-2747236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147159869	chr9:2747277-2747278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7470142	chr9:2747319-2747320	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75857267	chr9:2747322-2747323	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181958331	chr9:2747326-2747327	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142675739	chr9:2747389-2747390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534653432	chr9:2747489-2747490	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554363523	chr9:2747512-2747513	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147353432	chr9:2747525-2747526	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577357552	chr9:2747532-2747533	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79409791	chr9:2747537-2747538	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563109506	chr9:2747555-2747556	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568526423	chr9:2747632-2747633	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs576650444	chr9:2747642-2747643	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs545672172	chr9:2747653-2747654	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs76101128	chr9:2747663-2747664	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs185928851	chr9:2747717-2747718	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs547819600	chr9:2747732-2747733	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551717079	chr9:2747771-2747772	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:1469 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2718000-2772800	Weak transcription	Aorta	Aorta
2	chr9:2719200-2768400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:2719200-2768400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:2723200-2758000	Weak transcription	HSMM	muscle
5	chr9:2723200-2768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:2726200-2768400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:2728200-2755600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:2728200-2761200	Weak transcription	GM12878-XiMat	blood
9	chr9:2728200-2768400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:2728400-2759400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:2728400-2759400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:2728600-2746600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr9:2728600-2746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:2728600-2758800	Weak transcription	Fetal Lung	lung
15	chr9:2728600-2759200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:2728600-2768400	Weak transcription	Primary B cells from cord blood	blood
17	chr9:2728600-2772400	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:2728800-2750600	Weak transcription	HepG2	liver
19	chr9:2729200-2768400	Weak transcription	NHLF	lung
20	chr9:2729200-2768800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:2729600-2747000	Weak transcription	Right Ventricle	heart
22	chr9:2729600-2759200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:2729600-2768400	Weak transcription	HMEC	breast
24	chr9:2730000-2759000	Weak transcription	NHDF-Ad	bronchial
25	chr9:2735200-2761200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:2737200-2769400	Weak transcription	Fetal Brain Female	brain
27	chr9:2737200-2777000	Weak transcription	Esophagus	oesophagus
28	chr9:2737800-2768200	Weak transcription	Hela-S3	cervix
29	chr9:2740200-2764200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:2740600-2768400	Weak transcription	Left Ventricle	heart
31	chr9:2740800-2761200	Weak transcription	Osteobl	bone
32	chr9:2741600-2748200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr9:2742000-2750400	Weak transcription	Small Intestine	intestine
34	chr9:2742200-2758200	Weak transcription	Fetal Muscle Leg	muscle
35	chr9:2742400-2759000	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:2742600-2751800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:2742600-2764600	Weak transcription	Brain Substantia Nigra	brain
38	chr9:2743000-2764000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr9:2743600-2763800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr9:2744000-2747600	Weak transcription	Fetal Intestine Small	intestine
41	chr9:2744000-2747800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:2744000-2759000	Weak transcription	Adipose Nuclei	Adipose
43	chr9:2744400-2746600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:2744400-2749400	Weak transcription	K562	blood
45	chr9:2744600-2746600	Enhancers	Pancreas	Pancrea
46	chr9:2744600-2752200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr9:2744800-2747200	Weak transcription	Brain Germinal Matrix	brain
48	chr9:2744800-2763600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr9:2745000-2746600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:2745200-2764000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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