Variant report

Variant	nsv1022214
Chromosome Location	chr8:9047178-9062514
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:8)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:9055363..9058285-chr8:9064246..9065769,2	K562	blood:
2	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:
3	chr8:9056772..9059082-chr8:9087003..9089013,2	K562	blood:
4	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
5	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
6	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:
7	chr8:9048939..9051745-chr8:9268709..9271649,2	K562	blood:
8	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	chr8:9060009-9060347	ENSG00000248538
2	lnc-RP11-10A14.4.1-2	chr8:9059902-9060357	NONHSAT124931
3	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	NONHSAT124925
4	lnc-RP11-10A14.4.1-2	chr8:9060009-9060363	XLOC_006705
5	lnc-RP11-10A14.4.1-2	chr8:9049886-9050069	l_3542_chr8:9046697-9051717_testes
6	lnc-RP11-10A14.4.1-2	chr8:9051691-9051717	l_3542_chr8:9046697-9051717_testes
7	lnc-RP11-10A14.4.1-2	chr8:9051468-9051542	ENSG00000248538
8	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
9	lnc-RP11-10A14.4.1-2	chr8:9060009-9060366	XLOC_006705
10	lnc-RP11-10A14.4.1-2	chr8:9056378-9056501	NONHSAT124930
11	lnc-RP11-10A14.4.1-2	chr8:9060009-9060357	NONHSAT124930
12	lnc-RP11-10A14.4.1-2	chr8:9060009-9060364	ENSG00000248538
13	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
14	lnc-RP11-10A14.4.1-2	chr8:9060009-9060368	NONHSAT124925
15	lnc-RP11-10A14.4.1-2	chr8:9056378-9056501	NONHSAT124931
16	lnc-RP11-10A14.4.1-2	chr8:9059902-9060000	ENSG00000248538
17	lnc-RP11-10A14.4.1-2	chr8:9051072-9051274	l_3542_chr8:9046697-9051717_testes
18	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
19	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	XLOC_006705
20	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	XLOC_006705

No data

Extended variants
information (count: 857 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2010390	chr8:9047178-9047179	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182847775	chr8:9047207-9047208	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs566670999	chr8:9047213-9047214	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs539101705	chr8:9047245-9047246	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373193912	chr8:9047251-9047252	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188313434	chr8:9047266-9047267	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550574573	chr8:9047306-9047307	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569451096	chr8:9047330-9047331	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538026140	chr8:9047337-9047338	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78464223	chr8:9047342-9047343	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557782080	chr8:9047350-9047351	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs116996968	chr8:9047360-9047361	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs191311313	chr8:9047437-9047438	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs554079930	chr8:9047445-9047446	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs116248861	chr8:9047491-9047492	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576889970	chr8:9047515-9047516	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540392767	chr8:9047519-9047520	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545865640	chr8:9047562-9047563	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs562407904	chr8:9047580-9047581	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs531537762	chr8:9047588-9047589	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541586313	chr8:9047589-9047590	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561690264	chr8:9047645-9047646	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527580396	chr8:9047646-9047647	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35926485	chr8:9047656-9047657	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546617254	chr8:9047689-9047690	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182125714	chr8:9047692-9047693	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371121026	chr8:9047744-9047745	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs118061687	chr8:9047810-9047811	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377492006	chr8:9047840-9047841	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569206442	chr8:9047850-9047851	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538441660	chr8:9047866-9047867	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555191669	chr8:9047879-9047880	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543297674	chr8:9047882-9047883	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186819101	chr8:9047895-9047896	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17155346	chr8:9047912-9047913	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115455201	chr8:9047957-9047958	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192451328	chr8:9047993-9047994	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576786889	chr8:9048057-9048058	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563086708	chr8:9048069-9048070	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs74349026	chr8:9048074-9048075	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2929301	chr8:9048104-9048105	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs576049197	chr8:9048114-9048115	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs184738677	chr8:9048121-9048122	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs561524478	chr8:9048127-9048128	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs72215421	chr8:9048135-9048136	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs74975603	chr8:9048142-9048143	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs527614825	chr8:9048145-9048146	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs540944421	chr8:9048160-9048161	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs139906210	chr8:9048186-9048187	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564942147	chr8:9048190-9048191	Active TSS Enhancers Weak transcription Flanking Active TSS	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9041200-9048200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:9041400-9047800	Weak transcription	Brain Anterior Caudate	brain
3	chr8:9043200-9048000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:9043200-9048800	Weak transcription	Esophagus	oesophagus
5	chr8:9045000-9047200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:9045400-9048400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:9045400-9048600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:9045600-9048600	Weak transcription	NH-A	brain
9	chr8:9045800-9047200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:9045800-9047400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:9045800-9047600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:9046000-9047200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:9046000-9047200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:9046000-9047600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:9046000-9047600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:9046000-9047800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:9046200-9047200	Active TSS	Placenta	Placenta
18	chr8:9046200-9047600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:9046200-9047800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:9046200-9048200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:9046200-9048800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:9046400-9047400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:9046400-9047400	Weak transcription	A549	lung
24	chr8:9046400-9047600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:9046400-9047600	Weak transcription	HMEC	breast
26	chr8:9046400-9047600	Active TSS	K562	blood
27	chr8:9046800-9047200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:9047000-9047800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr8:9047000-9048000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:9047200-9047400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:9047200-9047800	Flanking Active TSS	Placenta	Placenta
32	chr8:9047200-9049200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:9047200-9049400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:9047200-9049400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:9047200-9049800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:9047400-9048800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:9047400-9049400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:9047400-9049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:9047600-9047800	Enhancers	A549	lung
40	chr8:9047600-9048800	Enhancers	HMEC	breast
41	chr8:9047600-9049000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:9047600-9049200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:9047600-9049400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:9047600-9049400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:9047600-9049800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr8:9047600-9055000	Weak transcription	K562	blood
47	chr8:9047800-9048000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr8:9047800-9048000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:9047800-9048200	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr8:9047800-9048600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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