Variant report

Variant	nsv1028024
Chromosome Location	chr8:9048104-9064002
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	chr8:9056772..9059082-chr8:9087003..9089013,2	K562	blood:
3	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
4	chr8:9048939..9051745-chr8:9268709..9271649,2	K562	blood:
5	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:
6	chr8:9061535..9063157-chr8:9069276..9071088,2	MCF-7	breast:
7	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
8	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:

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

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

No data

Extended variants
information (count: 918 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2929301	chr8:9048104-9048105	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576049197	chr8:9048114-9048115	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184738677	chr8:9048121-9048122	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561524478	chr8:9048127-9048128	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs72215421	chr8:9048135-9048136	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74975603	chr8:9048142-9048143	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs527614825	chr8:9048145-9048146	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540944421	chr8:9048160-9048161	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139906210	chr8:9048186-9048187	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564942147	chr8:9048190-9048191	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188268000	chr8:9048205-9048206	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368040281	chr8:9048222-9048223	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552246980	chr8:9048277-9048278	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569373632	chr8:9048349-9048350	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547201185	chr8:9048357-9048358	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531839016	chr8:9048358-9048359	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114832329	chr8:9048369-9048370	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568652423	chr8:9048379-9048380	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534354142	chr8:9048399-9048400	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548129421	chr8:9048409-9048410	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567436420	chr8:9048410-9048411	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193171621	chr8:9048423-9048424	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539461863	chr8:9048434-9048435	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185305859	chr8:9048441-9048442	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573964934	chr8:9048468-9048469	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576117413	chr8:9048518-9048519	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371562577	chr8:9048547-9048548	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529886442	chr8:9048571-9048572	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17155349	chr8:9048597-9048598	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189761253	chr8:9048631-9048632	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550044121	chr8:9048642-9048643	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571932912	chr8:9048655-9048656	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114303646	chr8:9048659-9048660	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564414214	chr8:9048725-9048726	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73526164	chr8:9048743-9048744	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149813025	chr8:9048747-9048748	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562717776	chr8:9048757-9048758	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531874146	chr8:9048771-9048772	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548713427	chr8:9048792-9048793	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181465907	chr8:9048833-9048834	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17155353	chr8:9048858-9048859	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547667908	chr8:9048860-9048861	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571171473	chr8:9048906-9048907	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539725374	chr8:9048918-9048919	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549783178	chr8:9048931-9048932	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569566687	chr8:9048949-9048950	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183759551	chr8:9048964-9048965	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555048353	chr8:9048966-9048967	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571766108	chr8:9048982-9048983	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569617109	chr8:9049003-9049004	Flanking Active TSS 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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9041200-9048200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:9043200-9048800	Weak transcription	Esophagus	oesophagus
3	chr8:9045400-9048400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr8:9045400-9048600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:9045600-9048600	Weak transcription	NH-A	brain
6	chr8:9046200-9048200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:9046200-9048800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:9047200-9049200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:9047200-9049400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:9047200-9049400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:9047200-9049800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:9047400-9048800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:9047400-9049400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:9047400-9049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:9047600-9048800	Enhancers	HMEC	breast
16	chr8:9047600-9049000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:9047600-9049200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:9047600-9049400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:9047600-9049400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:9047600-9049800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:9047600-9055000	Weak transcription	K562	blood
22	chr8:9047800-9048200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:9047800-9048600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:9047800-9048600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:9047800-9048800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:9047800-9048800	Weak transcription	Placenta	Placenta
27	chr8:9047800-9049200	Enhancers	Brain Anterior Caudate	brain
28	chr8:9047800-9049400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:9048000-9048400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:9048000-9048600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:9048000-9048600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:9048200-9048400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:9048200-9048400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:9048200-9048600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:9048200-9048600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:9048200-9048600	Enhancers	Brain Hippocampus Middle	brain
37	chr8:9048200-9049400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:9048200-9049400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:9048200-9049400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:9048400-9048600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:9048400-9049000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:9048400-9049200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:9048400-9051800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:9048600-9048800	Enhancers	NH-A	brain
45	chr8:9048600-9049400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:9048600-9049400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:9048800-9049000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:9048800-9049400	Enhancers	Esophagus	oesophagus
49	chr8:9048800-9049400	Enhancers	Placenta	Placenta
50	chr8:9048800-9050200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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