Variant report

Variant	nsv437042
Chromosome Location	chr8:9049381-9070973
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:11)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:
2	chr8:9069999..9071504-chr8:9082002..9084260,2	K562	blood:
3	chr8:9061535..9063157-chr8:9069276..9071088,2	MCF-7	breast:
4	chr8:9056772..9059082-chr8:9087003..9089013,2	K562	blood:
5	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:
6	chr8:9055363..9058285-chr8:9064246..9065769,2	K562	blood:
7	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
8	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
9	chr8:9055363..9058285-chr8:9064246..9065769,2	K562	blood:
10	chr8:9048939..9051745-chr8:9268709..9271649,2	K562	blood:
11	chr8:9061535..9063157-chr8:9069276..9071088,2	MCF-7	breast:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
2	lnc-RP11-10A14.4.1-2	chr8:9049886-9050069	l_3542_chr8:9046697-9051717_testes
3	lnc-RP11-10A14.4.1-2	chr8:9051072-9051274	l_3542_chr8:9046697-9051717_testes
4	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	NONHSAT124925
5	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
6	lnc-RP11-10A14.4.1-2	chr8:9060009-9060366	XLOC_006705
7	lnc-RP11-10A14.4.1-2	chr8:9056378-9056501	NONHSAT124930
8	lnc-RP11-10A14.4.1-2	chr8:9060009-9060347	ENSG00000248538
9	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
10	lnc-RP11-10A14.4.1-2	chr8:9056378-9056501	NONHSAT124931
11	lnc-RP11-10A14.4.1-2	chr8:9060009-9060368	NONHSAT124925
12	lnc-RP11-10A14.4.1-2	chr8:9060009-9060357	NONHSAT124930
13	lnc-RP11-10A14.4.1-2	chr8:9059902-9060000	ENSG00000248538
14	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	XLOC_006705
15	lnc-RP11-10A14.4.1-2	chr8:9059902-9060357	NONHSAT124931
16	lnc-RP11-10A14.4.1-2	chr8:9051691-9051717	l_3542_chr8:9046697-9051717_testes
17	lnc-RP11-10A14.4.1-2	chr8:9060009-9060364	ENSG00000248538
18	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	XLOC_006705
19	lnc-RP11-10A14.4.1-2	chr8:9060009-9060363	XLOC_006705
20	lnc-RP11-10A14.4.1-2	chr8:9051468-9051542	ENSG00000248538

No data

Extended variants
information (count: 1235 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:1235 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2929478	chr8:9049381-9049382	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537220205	chr8:9049411-9049412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151209130	chr8:9049415-9049416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376900847	chr8:9049425-9049426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554013461	chr8:9049439-9049440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369717862	chr8:9049446-9049447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542669145	chr8:9049452-9049453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573940659	chr8:9049456-9049457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574173718	chr8:9049483-9049484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73526165	chr8:9049484-9049485	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs117548426	chr8:9049495-9049496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116088268	chr8:9049520-9049521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541185231	chr8:9049528-9049529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140305220	chr8:9049540-9049541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533365881	chr8:9049547-9049548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191437611	chr8:9049563-9049564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533323062	chr8:9049571-9049572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563677092	chr8:9049573-9049574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529539162	chr8:9049604-9049605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117839930	chr8:9049614-9049615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565321247	chr8:9049670-9049671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576822259	chr8:9049684-9049685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145437632	chr8:9049716-9049717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181758249	chr8:9049722-9049723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551206622	chr8:9049730-9049731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146469635	chr8:9049754-9049755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6601292	chr8:9049784-9049785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544990514	chr8:9049789-9049790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567595645	chr8:9049794-9049795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11986584	chr8:9049795-9049796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372968636	chr8:9049796-9049797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564849338	chr8:9049807-9049808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549459602	chr8:9049812-9049813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2929300	chr8:9049847-9049848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541372176	chr8:9049854-9049855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527320971	chr8:9049857-9049858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199852704	chr8:9049864-9049865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541113346	chr8:9049869-9049870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557982235	chr8:9049888-9049889	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs191407207	chr8:9049970-9049971	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs182677205	chr8:9050065-9050066	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs563517744	chr8:9050078-9050079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529575264	chr8:9050098-9050099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542925928	chr8:9050100-9050101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140880866	chr8:9050102-9050103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186493583	chr8:9050131-9050132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551315273	chr8:9050136-9050137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564869565	chr8:9050140-9050141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2929477	chr8:9050154-9050155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7817005	chr8:9050169-9050170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9047200-9049400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:9047200-9049400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:9047200-9049800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:9047400-9049400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:9047400-9049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:9047600-9049400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:9047600-9049400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:9047600-9049800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:9047600-9055000	Weak transcription	K562	blood
10	chr8:9047800-9049400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:9048200-9049400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:9048200-9049400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:9048200-9049400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:9048400-9051800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:9048600-9049400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:9048600-9049400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:9048800-9049400	Enhancers	Esophagus	oesophagus
18	chr8:9048800-9049400	Enhancers	Placenta	Placenta
19	chr8:9048800-9050200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:9049000-9052000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:9049200-9049400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:9049400-9049600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:9049400-9049800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:9049400-9050600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:9049400-9050800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:9049400-9051000	Weak transcription	Placenta	Placenta
27	chr8:9049400-9055000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:9049400-9056200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:9049800-9055400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:9049800-9055800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:9050600-9051400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:9050800-9051200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:9051000-9052400	Strong transcription	Placenta	Placenta
34	chr8:9051200-9055200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:9051800-9052400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:9052000-9052400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:9052400-9055400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:9052400-9056600	Weak transcription	Placenta	Placenta
39	chr8:9053800-9055000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:9054600-9054800	Enhancers	Ovary	ovary
41	chr8:9054800-9055400	Weak transcription	Ovary	ovary
42	chr8:9055000-9055200	Enhancers	K562	blood
43	chr8:9055000-9056400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:9055000-9056400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:9055000-9056400	Enhancers	Fetal Heart	heart
46	chr8:9055200-9055800	Flanking Active TSS	K562	blood
47	chr8:9055200-9056000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr8:9055200-9056200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:9055400-9056600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:9055400-9057000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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