Variant report

Variant	nsv615141
Chromosome Location	chr9:109813447-109839490
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:109809159..109811808-chr9:109835613..109837401,2	MCF-7	breast:
2	chr9:109821224..109823105-chr9:109824107..109826708,2	K562	blood:
3	chr9:109833101..109835924-chr9:109837755..109839915,2	MCF-7	breast:
4	chr9:109821224..109823105-chr9:109824107..109826708,2	K562	blood:
5	chr9:109833101..109835924-chr9:109837755..109839915,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF4-4	chr9:109823431-109823505	ENSG00000230782

No data

Variant related genes	Relation type
RNMT	miRNA target sites

Extended variants
information (count: 570 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10739230	chr9:109813447-109813448	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183182887	chr9:109813453-109813454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7048168	chr9:109813497-109813498	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187093102	chr9:109813577-109813578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369288421	chr9:109813615-109813616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191946397	chr9:109813633-109813634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184372524	chr9:109813637-109813638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370385023	chr9:109813654-109813655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371999802	chr9:109813705-109813706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528381441	chr9:109813715-109813716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs66760934	chr9:109813767-109813768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574527996	chr9:109813785-109813786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564735124	chr9:109813787-109813788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530338457	chr9:109813874-109813875	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs12000880	chr9:109813967-109813968	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550387968	chr9:109813982-109813983	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs568948093	chr9:109814019-109814020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535842937	chr9:109814022-109814023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189153741	chr9:109814030-109814031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193251994	chr9:109814050-109814051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs202079587	chr9:109814053-109814054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559336963	chr9:109814064-109814065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73508230	chr9:109814167-109814168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185726855	chr9:109814242-109814243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538451859	chr9:109814293-109814294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574021434	chr9:109814306-109814307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574881190	chr9:109814313-109814314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150159894	chr9:109814358-109814359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560106869	chr9:109814389-109814390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572154988	chr9:109814392-109814393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143241106	chr9:109814418-109814419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540115571	chr9:109814420-109814421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372915277	chr9:109814438-109814439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189404656	chr9:109814487-109814488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545544864	chr9:109814499-109814500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532172452	chr9:109814509-109814510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7043956	chr9:109814510-109814511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138647199	chr9:109814558-109814559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529804574	chr9:109814570-109814571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs784792	chr9:109814575-109814576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs200596933	chr9:109814589-109814590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566470314	chr9:109814590-109814591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572456004	chr9:109814598-109814599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527309858	chr9:109814616-109814617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552872798	chr9:109814624-109814625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180944353	chr9:109814645-109814646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538009939	chr9:109814665-109814666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373272571	chr9:109814723-109814724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141293635	chr9:109814761-109814762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185555743	chr9:109814830-109814831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:109810800-109813800	Enhancers	H9 Cell Line	embryonic stem cell
2	chr9:109811200-109813600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:109812200-109813600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:109812200-109820800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:109812600-109813600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:109813000-109814000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:109813200-109813600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:109813200-109813600	Enhancers	Colon Smooth Muscle	Colon
9	chr9:109813200-109814000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:109813200-109814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:109813600-109813800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:109813600-109814000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:109813800-109814000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
14	chr9:109813800-109816200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:109813800-109816600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:109819200-109820800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:109820000-109820200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:109820200-109820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:109820600-109820800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:109820800-109821000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:109820800-109821800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:109820800-109822000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:109821000-109822000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:109821400-109822600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:109821600-109822000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:109821600-109822400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:109821800-109822200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:109821800-109822200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr9:109822000-109822800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:109822000-109823200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:109822000-109823200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr9:109822200-109823200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr9:109822400-109823200	Enhancers	Fetal Muscle Leg	muscle
34	chr9:109822600-109823000	Enhancers	Psoas Muscle	Psoas
35	chr9:109827800-109831800	Enhancers	Fetal Intestine Large	intestine
36	chr9:109828000-109828600	Enhancers	Psoas Muscle	Psoas
37	chr9:109828000-109828800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr9:109828000-109830400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr9:109828200-109828400	Enhancers	Duodenum Mucosa	Duodenum
40	chr9:109828200-109828800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr9:109828400-109829400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:109828800-109830600	Enhancers	Stomach Mucosa	stomach
43	chr9:109829200-109831600	Enhancers	Fetal Intestine Small	intestine
44	chr9:109829400-109829600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr9:109829400-109829800	Enhancers	Colonic Mucosa	Colon
46	chr9:109829400-109831400	Enhancers	Duodenum Mucosa	Duodenum
47	chr9:109829600-109830400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr9:109829800-109830200	Weak transcription	Colonic Mucosa	Colon
49	chr9:109830200-109830600	Enhancers	Colonic Mucosa	Colon
50	chr9:109830400-109830800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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