Variant report

Variant	nsv1018731
Chromosome Location	chr7:119411352-119493951
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:48)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119473036..119475141-chr7:119476038..119478326,2	K562	blood:
2	chr7:119397490..119400025-chr7:119421872..119424720,2	MCF-7	breast:
3	chr7:119464670..119466870-chr7:119472485..119474183,2	K562	blood:
4	chr7:119477848..119480157-chr7:119533640..119535341,2	K562	blood:
5	chr7:119410529..119413456-chr7:119422041..119425141,3	K562	blood:
6	chr7:119426451..119428597-chr7:119430107..119432246,2	K562	blood:
7	chr7:119420029..119422229-chr7:119424729..119426648,2	K562	blood:
8	chr7:119420029..119422229-chr7:119424729..119426648,2	K562	blood:
9	chr7:119426451..119428597-chr7:119430107..119432246,2	K562	blood:
10	chr7:119431310..119433574-chr7:119434033..119435844,2	K562	blood:
11	chr7:119442907..119444921-chr7:119453208..119455078,2	K562	blood:
12	chr7:119487540..119490536-chr7:119492292..119494646,2	K562	blood:
13	chr7:119442907..119444921-chr7:119453208..119455078,2	K562	blood:
14	chr7:119440126..119441643-chr7:119447031..119450009,2	K562	blood:
15	chr7:119422555..119424212-chr7:119427757..119430145,2	K562	blood:
16	chr7:119413236..119417031-chr7:119417738..119421768,6	K562	blood:
17	chr7:119469810..119472524-chr7:119473941..119477700,3	K562	blood:
18	chr7:119436312..119439377-chr7:119443726..119446740,3	K562	blood:
19	chr7:119422555..119424212-chr7:119427757..119430145,2	K562	blood:
20	chr7:119420199..119422229-chr7:119425148..119427831,2	K562	blood:
21	chr7:119436312..119439377-chr7:119443726..119446740,3	K562	blood:
22	chr7:119473939..119476344-chr7:119479412..119481119,2	K562	blood:
23	chr7:119473939..119476344-chr7:119479412..119481119,2	K562	blood:
24	chr7:119410172..119412912-chr7:119413971..119417842,3	K562	blood:
25	chr7:119442907..119445204-chr7:119453578..119455616,2	K562	blood:
26	chr7:119481189..119482862-chr7:119504225..119505878,2	K562	blood:
27	chr7:119452460..119454329-chr7:119545907..119547422,2	K562	blood:
28	chr7:119410529..119413456-chr7:119422041..119425141,3	K562	blood:
29	chr7:119482560..119485334-chr7:119486434..119488140,2	K562	blood:
30	chr7:119487540..119490536-chr7:119492292..119494646,2	K562	blood:
31	chr1:121484535..121485269-chr7:119474518..119475464,2	MCF-7	breast:
32	chr7:119420199..119422229-chr7:119425148..119427831,2	K562	blood:
33	chr7:119408202..119409750-chr7:119409933..119412842,2	K562	blood:
34	chr7:119473036..119475141-chr7:119476038..119478326,2	K562	blood:
35	chr7:119469810..119472524-chr7:119473941..119477700,3	K562	blood:
36	chr7:119431310..119433574-chr7:119434033..119435844,2	K562	blood:
37	chr7:119422555..119424148-chr7:119427385..119429257,2	K562	blood:
38	chr7:119482560..119485334-chr7:119486434..119488140,2	K562	blood:
39	chr7:119453532..119455382-chr7:119462592..119465217,2	K562	blood:
40	chr7:119410172..119412912-chr7:119413971..119417842,3	K562	blood:
41	chr7:119464670..119466870-chr7:119472485..119474183,2	K562	blood:
42	chr7:119422555..119424148-chr7:119427385..119429257,2	K562	blood:
43	chr7:119440126..119441643-chr7:119447031..119450009,2	K562	blood:
44	chr7:119489803..119491919-chr7:119544731..119547433,2	K562	blood:
45	chr7:119453532..119455382-chr7:119462592..119465217,2	K562	blood:
46	chr7:119413236..119417031-chr7:119417738..119421768,6	K562	blood:
47	chr7:119442907..119445204-chr7:119453578..119455616,2	K562	blood:
48	chr7:119414314..119416658-chr7:119545781..119548127,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN12-4	chr7:119440870-119440928	XLOC_006580
2	lnc-TSPAN12-4	chr7:119422338-119422411	XLOC_006580
3	lnc-TSPAN12-4	chr7:119440870-119440928	XLOC_006580

No data

Variant related genes	Relation type
ENSG00000225546	chromatin interactions
HOXC8	miRNA target sites

Extended variants
information (count: 3020 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3020 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566883889	chr7:119411382-119411383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188511506	chr7:119411389-119411390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536236876	chr7:119411412-119411413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147185170	chr7:119411442-119411443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12706260	chr7:119411506-119411507	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527509624	chr7:119411517-119411518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542829368	chr7:119411526-119411527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554367336	chr7:119411532-119411533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201540771	chr7:119411545-119411546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202080902	chr7:119411549-119411550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60228311	chr7:119411551-119411552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200063797	chr7:119411554-119411555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398067219	chr7:119411555-119411556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533875693	chr7:119411584-119411585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76130339	chr7:119411634-119411635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576926751	chr7:119411723-119411724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115155312	chr7:119411761-119411762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11976999	chr7:119411762-119411763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184037730	chr7:119411795-119411796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576152909	chr7:119411899-119411900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188052808	chr7:119411990-119411991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73487162	chr7:119411995-119411996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572162928	chr7:119411996-119411997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549765295	chr7:119412051-119412052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575911791	chr7:119412078-119412079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544879182	chr7:119412092-119412093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73720550	chr7:119412170-119412171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564106578	chr7:119412199-119412200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533191126	chr7:119412230-119412231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550043299	chr7:119412264-119412265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73487163	chr7:119412265-119412266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575075902	chr7:119412266-119412267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140625789	chr7:119412282-119412283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191371057	chr7:119412339-119412340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566162009	chr7:119412347-119412348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183895961	chr7:119412395-119412396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533835439	chr7:119412448-119412449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547547183	chr7:119412478-119412479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531996623	chr7:119412487-119412488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34433133	chr7:119412511-119412512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570440389	chr7:119412530-119412531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540601095	chr7:119412534-119412535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560321464	chr7:119412631-119412632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539485903	chr7:119412672-119412673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146393048	chr7:119412690-119412691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186874045	chr7:119412699-119412700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73720551	chr7:119412713-119412714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535390338	chr7:119412746-119412747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555509803	chr7:119412792-119412793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571926748	chr7:119412810-119412811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119364800-119416000	Weak transcription	K562	blood
2	chr7:119411400-119411600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:119411600-119414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:119414000-119414200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:119416000-119416400	Strong transcription	K562	blood
6	chr7:119416400-119427400	Weak transcription	K562	blood
7	chr7:119427400-119428600	Strong transcription	K562	blood
8	chr7:119428600-119437000	Weak transcription	K562	blood
9	chr7:119437000-119438200	ZNF genes & repeats	K562	blood
10	chr7:119438200-119438800	Weak transcription	K562	blood
11	chr7:119438800-119439000	Strong transcription	K562	blood
12	chr7:119439000-119439200	Weak transcription	K562	blood
13	chr7:119439200-119439600	ZNF genes & repeats	K562	blood
14	chr7:119439600-119442400	Strong transcription	K562	blood
15	chr7:119442400-119451000	Weak transcription	K562	blood
16	chr7:119451000-119452000	Strong transcription	K562	blood
17	chr7:119452000-119466600	Weak transcription	K562	blood
18	chr7:119459600-119459800	Active TSS	Fetal Brain Male	brain
19	chr7:119464400-119465200	Enhancers	Brain Anterior Caudate	brain
20	chr7:119464600-119465600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:119465200-119465800	Active TSS	Brain Hippocampus Middle	brain
22	chr7:119465200-119466000	Active TSS	Brain Anterior Caudate	brain
23	chr7:119465400-119465800	Enhancers	Fetal Brain Male	brain
24	chr7:119466600-119468400	Strong transcription	K562	blood
25	chr7:119468400-119472200	Weak transcription	K562	blood
26	chr7:119472200-119472800	Strong transcription	K562	blood
27	chr7:119472800-119473400	Weak transcription	K562	blood
28	chr7:119473400-119473800	Strong transcription	K562	blood
29	chr7:119473800-119479600	Weak transcription	K562	blood
30	chr7:119474400-119475200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:119474400-119475200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:119474600-119475200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:119479600-119479800	Strong transcription	K562	blood
34	chr7:119479800-119480400	Weak transcription	K562	blood
35	chr7:119480400-119481200	Strong transcription	K562	blood
36	chr7:119481200-119481600	Genic enhancers	K562	blood
37	chr7:119481600-119485000	Strong transcription	K562	blood
38	chr7:119482400-119482600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:119482400-119483400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:119482600-119483000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:119482600-119483400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:119482600-119483400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:119482600-119483600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr7:119482600-119483600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:119482800-119483600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:119483000-119483400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:119483200-119483400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr7:119483200-119483600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:119485000-119501200	Weak transcription	K562	blood

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