Variant report

Variant	nsv982638
Chromosome Location	chr9:72715341-72722036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72707394..72709089-chr9:72720199..72722050,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF9-1	chr9:72720832-72720958	ENSG00000204706.10

Variant related genes	Relation type
ENSG00000204706	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3015191	chr9:72715365-72715366	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190827886	chr9:72715436-72715437	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2997699	chr9:72715460-72715461	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73650530	chr9:72715470-72715471	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145961158	chr9:72715494-72715495	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561089176	chr9:72715572-72715573	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541771492	chr9:72715574-72715575	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528237207	chr9:72715585-72715586	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546715933	chr9:72715681-72715682	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2997700	chr9:72715898-72715899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374353536	chr9:72715901-72715902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2997701	chr9:72715920-72715921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2997702	chr9:72715961-72715962	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537329000	chr9:72716004-72716005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147073692	chr9:72716111-72716112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2997703	chr9:72716192-72716193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576822791	chr9:72716210-72716211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559161768	chr9:72716249-72716250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181545581	chr9:72716273-72716274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111232502	chr9:72716274-72716275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377701923	chr9:72716275-72716276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59233749	chr9:72716279-72716280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185953732	chr9:72716310-72716311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2997704	chr9:72716321-72716322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs3015192	chr9:72716327-72716328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541978145	chr9:72716425-72716426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55934562	chr9:72716462-72716463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35803785	chr9:72716490-72716491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142040781	chr9:72716509-72716510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189158350	chr9:72716517-72716518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2975870	chr9:72716547-72716548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537364532	chr9:72716557-72716558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181085734	chr9:72716575-72716576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186583039	chr9:72716580-72716581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2997705	chr9:72716584-72716585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4358861	chr9:72716616-72716617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151223355	chr9:72716673-72716674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570139740	chr9:72716684-72716685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372932692	chr9:72716689-72716690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59559563	chr9:72716772-72716773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377283522	chr9:72716781-72716782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370833829	chr9:72716906-72716907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552406581	chr9:72716930-72716931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368231711	chr9:72716939-72716940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570518811	chr9:72717001-72717002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112595947	chr9:72717016-72717017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376741122	chr9:72717017-72717018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367908917	chr9:72717019-72717020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548924410	chr9:72717034-72717035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190733543	chr9:72717039-72717040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72694800-72721400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:72707400-72726800	Weak transcription	Pancreas	Pancrea
3	chr9:72709200-72721400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:72709400-72722600	Weak transcription	HSMM	muscle
5	chr9:72709600-72715400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:72710200-72719000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:72712400-72718000	Enhancers	Colon Smooth Muscle	Colon
8	chr9:72712600-72716800	Enhancers	Rectal Smooth Muscle	rectum
9	chr9:72712800-72716000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr9:72713200-72723200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:72713600-72715400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:72713800-72715600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:72713800-72725600	Weak transcription	Stomach Mucosa	stomach
14	chr9:72713800-72728200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:72714400-72715800	Strong transcription	HSMMtube	muscle
16	chr9:72714800-72742400	Weak transcription	Aorta	Aorta
17	chr9:72715000-72715800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:72715000-72715800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:72715200-72715400	Enhancers	Fetal Stomach	stomach
20	chr9:72715200-72715600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:72715200-72715600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:72715200-72715600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:72715200-72715600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:72715200-72715600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:72715200-72715600	Enhancers	Ovary	ovary
26	chr9:72715200-72715800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:72715200-72715800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:72715200-72715800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr9:72715200-72716000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:72715400-72715600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:72715400-72715600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:72715400-72715800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr9:72715400-72716200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:72715400-72721400	Weak transcription	Fetal Stomach	stomach
35	chr9:72715600-72715800	Enhancers	Stomach Smooth Muscle	stomach
36	chr9:72715600-72723200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr9:72715600-72723200	Weak transcription	Ovary	ovary
38	chr9:72715600-72725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:72715600-72725400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr9:72715600-72725400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:72715600-72725600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:72715800-72716400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:72715800-72719600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr9:72715800-72721000	Weak transcription	HSMMtube	muscle
45	chr9:72715800-72724000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:72715800-72725400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr9:72716000-72717200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:72716000-72725000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:72716200-72723200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:72716400-72716600	Enhancers	Duodenum Smooth Muscle	Duodenum

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