Variant report

Variant	nsv561969
Chromosome Location	chr13:65215262-65297794
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:65274620..65276481-chr13:65278666..65280880,2	MCF-7	breast:
2	chr13:65293521..65294041-chr8:107636082..107636585,2	MCF-7	breast:
3	chr13:65274620..65276481-chr13:65278666..65280880,2	MCF-7	breast:
4	chr13:65286215..65288763-chr13:65291876..65293439,2	K562	blood:
5	chr13:65286215..65288763-chr13:65291876..65293439,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH9-3	chr13:65216354-65216446	XLOC_010647

No data

Extended variants
information (count: 2429 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2429 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9592359	chr13:65215262-65215263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370980770	chr13:65215294-65215295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538014655	chr13:65215422-65215423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556326591	chr13:65215449-65215450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540676273	chr13:65215450-65215451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371716135	chr13:65215467-65215468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559937242	chr13:65215536-65215537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375182738	chr13:65215537-65215538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559029669	chr13:65215572-65215573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532927575	chr13:65215573-65215574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73510876	chr13:65215615-65215616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs60250681	chr13:65215647-65215648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535148443	chr13:65215685-65215686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553741597	chr13:65215687-65215688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546812181	chr13:65215720-65215721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140029780	chr13:65215762-65215763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540945603	chr13:65215883-65215884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555114047	chr13:65215893-65215894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565217699	chr13:65215901-65215902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577058532	chr13:65215912-65215913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73510877	chr13:65215929-65215930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562689981	chr13:65215963-65215964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149426708	chr13:65215968-65215969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548352864	chr13:65215996-65215997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560550460	chr13:65216079-65216080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530816672	chr13:65216136-65216137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79972530	chr13:65216156-65216157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552471277	chr13:65216283-65216284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570741220	chr13:65216284-65216285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549055333	chr13:65216371-65216372	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs144799667	chr13:65216399-65216400	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs549995708	chr13:65216429-65216430	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs568222988	chr13:65216462-65216463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535555486	chr13:65216551-65216552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111952475	chr13:65216585-65216586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567618795	chr13:65216603-65216604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565699486	chr13:65216644-65216645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374919178	chr13:65216651-65216652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148564953	chr13:65216696-65216697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192408906	chr13:65216736-65216737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142904343	chr13:65216748-65216749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146093950	chr13:65216769-65216770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs359398	chr13:65216790-65216791	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs118012914	chr13:65216803-65216804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76988326	chr13:65216895-65216896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140076574	chr13:65216929-65216930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560360557	chr13:65216945-65216946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371897912	chr13:65216952-65216953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs359399	chr13:65216970-65216971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs924095	chr13:65216985-65216986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65214800-65217600	Weak transcription	HUVEC	blood vessel
2	chr13:65216200-65216800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:65216400-65218400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:65216400-65219000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr13:65216600-65217200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:65216600-65218200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:65216800-65217800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:65217000-65217200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:65217200-65217600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:65217600-65218200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:65217600-65218600	Enhancers	HUVEC	blood vessel
12	chr13:65217800-65218000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:65217800-65218800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:65218200-65236800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:65218400-65218800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:65218800-65219800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:65228600-65231000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:65236800-65237400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:65236800-65238200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:65237000-65237200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:65237000-65237600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:65238000-65238200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:65238200-65238800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:65246600-65247400	Enhancers	NHEK	skin
25	chr13:65246800-65247400	Enhancers	HMEC	breast
26	chr13:65247000-65247200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:65247000-65247400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:65247200-65248200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:65247200-65249600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:65247400-65247600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:65247400-65248400	Weak transcription	HMEC	breast
32	chr13:65247400-65248600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:65247400-65249800	Weak transcription	NHEK	skin
34	chr13:65247600-65248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:65248200-65248600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:65248400-65249200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:65248400-65250400	Enhancers	HMEC	breast
38	chr13:65248600-65248800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:65248600-65249200	Enhancers	A549	lung
40	chr13:65248600-65250200	Enhancers	NH-A	brain
41	chr13:65248600-65250400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:65248600-65250600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:65248800-65249600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr13:65248800-65249600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:65248800-65249600	Enhancers	Hela-S3	cervix
46	chr13:65248800-65250000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr13:65248800-65250000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:65248800-65250000	Enhancers	NHDF-Ad	bronchial
49	chr13:65248800-65250400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:65249200-65249400	Weak transcription	A549	lung

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