Variant report

Variant	nsv900007
Chromosome Location	chr13:39801283-39849423
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:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:39719198..39719712-chr13:39837131..39837687,2	MCF-7	breast:
2	chr13:39830849..39832664-chr13:39832749..39835650,2	K562	blood:
3	chr13:39847798..39849106-chr13:40186090..40186812,3	MCF-7	breast:
4	chr13:39814230..39816946-chr13:39818175..39820309,2	MCF-7	breast:
5	chr13:39818526..39820381-chr13:39825291..39828049,2	K562	blood:
6	chr13:39625131..39625918-chr13:39837190..39837917,2	MCF-7	breast:
7	chr13:39801102..39802951-chr13:39804110..39806783,2	K562	blood:
8	chr13:39822099..39823808-chr13:39824186..39826033,2	MCF-7	breast:
9	chr13:39822099..39823808-chr13:39824186..39826033,2	MCF-7	breast:
10	chr13:39801102..39802951-chr13:39804110..39806783,2	K562	blood:
11	chr13:39847888..39848484-chr13:40190411..40191515,3	MCF-7	breast:
12	chr13:39814230..39816946-chr13:39818175..39820309,2	MCF-7	breast:
13	chr13:39718832..39719761-chr13:39837531..39838084,2	MCF-7	breast:
14	chr13:39718578..39719659-chr13:39836349..39837386,3	MCF-7	breast:
15	chr13:39847871..39848539-chr13:40250173..40250781,3	MCF-7	breast:
16	chr13:39818526..39820381-chr13:39825291..39828049,2	K562	blood:
17	chr13:39830849..39832664-chr13:39832749..39835650,2	K562	blood:
18	chr13:39847786..39848754-chr13:40185411..40186547,5	MCF-7	breast:
19	chr13:39612166..39614175-chr13:39828617..39830639,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LHFP-6	chr13:39822246-39822440	NONHSAT033298
2	lnc-LHFP-6	chr13:39816094-39816342	NONHSAT033298

No data

Variant related genes	Relation type
ENSG00000188811	chromatin interactions
ENSG00000120685	chromatin interactions

Extended variants
information (count: 1705 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1705 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7335044	chr13:39801283-39801284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9603517	chr13:39801344-39801345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567297329	chr13:39801363-39801364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117456105	chr13:39801391-39801392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570171682	chr13:39801444-39801445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35092673	chr13:39801452-39801453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545688794	chr13:39801603-39801604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189906727	chr13:39801653-39801654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575245869	chr13:39801661-39801662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182411920	chr13:39801665-39801666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552404741	chr13:39801679-39801680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568918529	chr13:39801749-39801750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559263192	chr13:39801754-39801755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370972316	chr13:39801756-39801757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528426501	chr13:39801795-39801796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187073674	chr13:39801861-39801862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371909072	chr13:39801868-39801869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190425799	chr13:39801870-39801871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574871941	chr13:39801877-39801878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183381265	chr13:39801893-39801894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11618588	chr13:39801903-39801904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373736084	chr13:39801906-39801907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552915493	chr13:39801918-39801919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114951977	chr13:39801931-39801932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544022380	chr13:39801971-39801972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563920974	chr13:39801988-39801989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565220065	chr13:39802003-39802004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575608347	chr13:39802011-39802012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367616907	chr13:39802032-39802033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138005319	chr13:39802033-39802034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560922637	chr13:39802039-39802040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142339793	chr13:39802046-39802047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145949491	chr13:39802048-39802049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9548693	chr13:39802052-39802053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372071230	chr13:39802054-39802055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558288632	chr13:39802070-39802071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552341391	chr13:39802120-39802121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530922712	chr13:39802127-39802128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569255772	chr13:39802151-39802152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188705467	chr13:39802163-39802164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9548694	chr13:39802184-39802185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548310900	chr13:39802210-39802211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573495427	chr13:39802211-39802212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568417001	chr13:39802213-39802214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139744799	chr13:39802239-39802240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114550986	chr13:39802247-39802248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9548695	chr13:39802249-39802250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538883772	chr13:39802281-39802282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558765056	chr13:39802289-39802290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575642994	chr13:39802355-39802356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39800200-39804400	Weak transcription	Fetal Lung	lung
2	chr13:39802400-39804800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:39804200-39805400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:39804400-39804800	Enhancers	Fetal Lung	lung
5	chr13:39804800-39805000	Weak transcription	Fetal Lung	lung
6	chr13:39804800-39806600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr13:39805000-39805200	Enhancers	Fetal Lung	lung
8	chr13:39805200-39806800	Weak transcription	Fetal Lung	lung
9	chr13:39805400-39809400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:39806400-39808000	Enhancers	Liver	Liver
11	chr13:39806400-39808600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:39806600-39807200	Enhancers	Adipose Nuclei	Adipose
13	chr13:39806600-39807200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:39806600-39807600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:39806800-39808200	Enhancers	Fetal Lung	lung
16	chr13:39808000-39808400	Enhancers	Right Atrium	heart
17	chr13:39808200-39808600	Flanking Active TSS	Fetal Lung	lung
18	chr13:39808200-39808600	Enhancers	Ovary	ovary
19	chr13:39808600-39808800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:39808600-39808800	Enhancers	Fetal Lung	lung
21	chr13:39809400-39810200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:39809600-39810000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:39809600-39810400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:39809800-39810200	Enhancers	Rectal Smooth Muscle	rectum
25	chr13:39815400-39816000	Enhancers	Fetal Heart	heart
26	chr13:39817400-39818000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr13:39818800-39827800	Weak transcription	Left Ventricle	heart
28	chr13:39819400-39820400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:39819400-39820600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:39819600-39820200	Enhancers	HMEC	breast
31	chr13:39819600-39820400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:39819600-39820800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:39819800-39820400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:39820000-39820400	Enhancers	NHEK	skin
35	chr13:39824200-39824400	Enhancers	Ovary	ovary
36	chr13:39824200-39824400	Enhancers	Stomach Smooth Muscle	stomach
37	chr13:39824200-39824800	Enhancers	Right Atrium	heart
38	chr13:39824200-39824800	Enhancers	Right Ventricle	heart
39	chr13:39824600-39825000	Enhancers	Fetal Kidney	kidney
40	chr13:39824600-39825000	Enhancers	Fetal Stomach	stomach
41	chr13:39824600-39825200	Enhancers	Fetal Heart	heart
42	chr13:39824800-39828800	Weak transcription	Right Atrium	heart
43	chr13:39824800-39831000	Weak transcription	Right Ventricle	heart
44	chr13:39825000-39833600	Weak transcription	Fetal Stomach	stomach
45	chr13:39825200-39827800	Weak transcription	Fetal Heart	heart
46	chr13:39827800-39828000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:39827800-39828400	Enhancers	Ovary	ovary
48	chr13:39827800-39828600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:39827800-39828800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr13:39827800-39829400	Enhancers	Fetal Muscle Leg	muscle

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