Variant report

Variant	nsv416298
Chromosome Location	chr9:108295722-108303569
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:108293123..108295259-chr9:108297045..108298602,2	K562	blood:
2	chr9:108294400..108296396-chr9:108300252..108301863,2	K562	blood:
3	chr9:108295821..108298820-chr9:108299705..108303201,3	MCF-7	breast:
4	chr9:108294400..108296396-chr9:108300252..108301863,2	K562	blood:
5	chr9:108295821..108298820-chr9:108299705..108303201,3	MCF-7	breast:
6	chr6:26020975..26022487-chr9:108293972..108296238,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKTN-1	chr9:108301589-108301714	NONHSAT133814
2	lnc-FKTN-1	chr9:108302459-108302607	NONHSAT133814

No data

Variant related genes	Relation type
ENSG00000196176	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:267 , 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	rs13285295	chr9:108295761-108295762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs58242407	chr9:108295764-108295765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13300654	chr9:108295772-108295773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs13300659	chr9:108295788-108295789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557638621	chr9:108295789-108295790	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139314058	chr9:108295806-108295807	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576015978	chr9:108295882-108295883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12339148	chr9:108295888-108295889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146171230	chr9:108295900-108295901	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561485743	chr9:108295910-108295911	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116089012	chr9:108295937-108295938	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181919050	chr9:108295938-108295939	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187158654	chr9:108295943-108295944	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189946568	chr9:108295944-108295945	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12235779	chr9:108295945-108295946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563202617	chr9:108295966-108295967	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530729362	chr9:108295991-108295992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548740253	chr9:108295993-108295994	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11348873	chr9:108296000-108296001	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs398011746	chr9:108296006-108296007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112020412	chr9:108296011-108296012	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557817946	chr9:108296022-108296023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181530862	chr9:108296058-108296059	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576992947	chr9:108296060-108296061	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185375578	chr9:108296129-108296130	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571715990	chr9:108296130-108296131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538992517	chr9:108296161-108296162	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557405719	chr9:108296162-108296163	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370573855	chr9:108296183-108296184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs137881201	chr9:108296200-108296201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536921778	chr9:108296219-108296220	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555281082	chr9:108296252-108296253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7033452	chr9:108296340-108296341	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540871742	chr9:108296377-108296378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559139793	chr9:108296388-108296389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117578700	chr9:108296419-108296420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535529412	chr9:108296460-108296461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544571597	chr9:108296475-108296476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76988161	chr9:108296513-108296514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189977373	chr9:108296531-108296532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182236400	chr9:108296576-108296577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17308339	chr9:108296577-108296578	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs561282230	chr9:108296638-108296639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528226096	chr9:108296645-108296646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78749813	chr9:108296662-108296663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571613408	chr9:108296679-108296680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532672502	chr9:108296689-108296690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551119761	chr9:108296731-108296732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569262597	chr9:108296738-108296739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184894341	chr9:108296742-108296743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
2	chr9:108222600-108311400	Weak transcription	Fetal Heart	heart
3	chr9:108231800-108296800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:108242600-108300000	Weak transcription	Brain Anterior Caudate	brain
5	chr9:108268200-108306000	Weak transcription	Brain Angular Gyrus	brain
6	chr9:108272800-108304600	Weak transcription	NHEK	skin
7	chr9:108274400-108299800	Weak transcription	Fetal Lung	lung
8	chr9:108276200-108309200	Weak transcription	Lung	lung
9	chr9:108278800-108296600	Weak transcription	A549	lung
10	chr9:108278800-108297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:108278800-108305800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:108279000-108296000	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:108279000-108311400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:108279000-108317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:108279200-108297400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:108279200-108313000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:108279400-108296800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:108279600-108296800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:108280200-108297200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:108282400-108296400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:108282400-108296800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:108282400-108296800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:108282400-108297600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:108282400-108299600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:108282400-108300000	Weak transcription	HSMMtube	muscle
26	chr9:108282400-108302800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:108282400-108302800	Weak transcription	HSMM	muscle
28	chr9:108282400-108312400	Weak transcription	HepG2	liver
29	chr9:108282400-108319800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr9:108282400-108319800	Weak transcription	Left Ventricle	heart
31	chr9:108282400-108319800	Weak transcription	Psoas Muscle	Psoas
32	chr9:108282600-108319800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:108285200-108296800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:108289200-108306200	Weak transcription	Fetal Brain Male	brain
35	chr9:108289800-108309800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:108290000-108298800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:108290800-108296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:108291000-108296200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:108291000-108296400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:108291400-108297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:108291800-108310200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:108292600-108296800	Weak transcription	NHLF	lung
43	chr9:108292600-108305600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:108292600-108319800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr9:108293600-108299800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr9:108293800-108319800	Weak transcription	Liver	Liver
47	chr9:108294000-108297000	Weak transcription	Adipose Nuclei	Adipose
48	chr9:108294400-108304400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:108294600-108296800	Weak transcription	GM12878-XiMat	blood
50	chr9:108294600-108299600	Weak transcription	Duodenum Mucosa	Duodenum

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