Variant report

Variant	nsv893771
Chromosome Location	chr9:118244107-118332688
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:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117988130..117988677-chr9:118286316..118287411,4	MCF-7	breast:
2	chr9:118313061..118314706-chr9:118831781..118833432,2	MCF-7	breast:
3	chr9:118296994..118298706-chr9:118305730..118308270,2	K562	blood:
4	chr9:117776404..117777930-chr9:118286444..118287425,4	MCF-7	breast:
5	chr9:118296994..118298706-chr9:118305730..118308270,2	K562	blood:
6	chr9:117988097..117989116-chr9:118286127..118287416,14	MCF-7	breast:
7	chr9:117443932..117444479-chr9:118286459..118287036,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEC1-6	chr9:118284992-118285098	NONHSAT134413
2	lnc-DEC1-1	chr9:118306383-118306444	ucscGeneNc_uc004bju_1
3	lnc-DEC1-6	chr9:118258510-118258849	NONHSAT134413
4	lnc-DEC1-1	chr9:118279334-118279475	ENSG00000197486

No data

Variant related genes	Relation type
DMXL2	miRNA target sites

Extended variants
information (count: 2757 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2757 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12341727	chr9:118244107-118244108	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539585101	chr9:118244129-118244130	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192961954	chr9:118244162-118244163	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535340741	chr9:118244194-118244195	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80060844	chr9:118244251-118244252	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139283495	chr9:118244252-118244253	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4978641	chr9:118244286-118244287	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs557049331	chr9:118244303-118244304	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576030148	chr9:118244314-118244315	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573545815	chr9:118244320-118244321	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11792811	chr9:118244352-118244353	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142599264	chr9:118244359-118244360	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11792823	chr9:118244374-118244375	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544918419	chr9:118244383-118244384	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182788750	chr9:118244393-118244394	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145959603	chr9:118244411-118244412	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550003383	chr9:118244434-118244435	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139878828	chr9:118244482-118244483	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529379567	chr9:118244484-118244485	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143118599	chr9:118244486-118244487	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558919604	chr9:118244512-118244513	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565962623	chr9:118244519-118244520	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541306253	chr9:118244528-118244529	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368821637	chr9:118244543-118244544	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372417396	chr9:118244642-118244643	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531328599	chr9:118244648-118244649	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371339406	chr9:118244649-118244650	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552139852	chr9:118244711-118244712	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55652072	chr9:118244782-118244783	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147294667	chr9:118244816-118244817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112334851	chr9:118244871-118244872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145464588	chr9:118244890-118244891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187904289	chr9:118244891-118244892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199872844	chr9:118244932-118244933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192489313	chr9:118244942-118244943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62576506	chr9:118244944-118244945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs7030501	chr9:118244946-118244947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75577944	chr9:118245014-118245015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544880287	chr9:118245024-118245025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564882301	chr9:118245037-118245038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575087485	chr9:118245062-118245063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115545497	chr9:118245122-118245123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560929640	chr9:118245140-118245141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529360407	chr9:118245144-118245145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549228725	chr9:118245151-118245152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192403692	chr9:118245181-118245182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184615905	chr9:118245247-118245248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547445611	chr9:118245257-118245258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74630487	chr9:118245275-118245276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148412865	chr9:118245290-118245291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118237600-118257000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:118238200-118269400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:118240200-118249000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:118241400-118269400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:118241800-118244400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:118242000-118244400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:118242000-118260600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:118242400-118244400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:118242400-118244800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:118242600-118245200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr9:118242800-118244200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:118243800-118244400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:118244000-118244200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:118244000-118244400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:118244200-118244400	Genic enhancers	H9 Cell Line	embryonic stem cell
16	chr9:118244200-118244400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:118244200-118244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:118244400-118244600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:118244400-118244800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:118244400-118244800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:118244400-118244800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:118244400-118244800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr9:118244400-118246600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:118244600-118244800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:118244600-118244800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr9:118244600-118245800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:118244800-118245200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:118244800-118245400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:118244800-118245800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:118244800-118248200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr9:118244800-118252800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:118244800-118256800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:118244800-118269400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:118245200-118245400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:118245200-118245800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:118245400-118245800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:118245400-118246000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr9:118245800-118246000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:118245800-118246000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:118245800-118246000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr9:118245800-118246600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:118245800-118246800	Enhancers	HMEC	breast
43	chr9:118245800-118247200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:118246000-118246400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr9:118246000-118246800	Enhancers	Osteobl	bone
46	chr9:118246000-118247000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:118246000-118247200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:118246000-118250800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr9:118246000-118257000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:118246200-118246600	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links