Variant report

Variant	nsv1053686
Chromosome Location	chr13:97771607-97802296
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:29)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:97772914..97774476-chr13:97788808..97791555,2	MCF-7	breast:
2	chr13:97768370..97770403-chr13:97772798..97774426,2	MCF-7	breast:
3	chr13:97785432..97787983-chr13:97793170..97794870,3	MCF-7	breast:
4	chr13:97770807..97773775-chr13:97872906..97876647,5	MCF-7	breast:
5	chr13:97785956..97786925-chr13:97831820..97832531,2	MCF-7	breast:
6	chr13:97791209..97794724-chr13:97910045..97913597,5	K562	blood:
7	chr13:97776736..97778523-chr13:97910943..97912665,2	K562	blood:
8	chr13:97799762..97802960-chr13:97803029..97806016,3	K562	blood:
9	chr13:97780439..97783055-chr13:97875747..97878631,2	MCF-7	breast:
10	chr13:97791984..97795803-chr13:97797601..97802176,4	K562	blood:
11	chr13:97773812..97776578-chr13:97779026..97783361,3	MCF-7	breast:
12	chr13:97773812..97776578-chr13:97779026..97783361,3	MCF-7	breast:
13	chr13:97793649..97795166-chr13:97797379..97799703,2	MCF-7	breast:
14	chr13:97789069..97791800-chr13:97794910..97798178,3	K562	blood:
15	chr13:97773536..97776027-chr13:97843320..97845998,2	MCF-7	breast:
16	chr13:97789069..97794606-chr13:97796016..97800489,5	K562	blood:
17	chr13:97772203..97773907-chr13:97847803..97849794,2	K562	blood:
18	chr13:97789069..97794606-chr13:97796016..97800489,5	K562	blood:
19	chr13:97793649..97795166-chr13:97797379..97799703,2	MCF-7	breast:
20	chr13:97800826..97802960-chr13:97804516..97806810,2	K562	blood:
21	chr13:97785956..97786925-chr13:97831641..97832531,3	MCF-7	breast:
22	chr13:97792540..97794724-chr13:97910045..97912283,3	K562	blood:
23	chr13:97766281..97768072-chr13:97784194..97787057,2	K562	blood:
24	chr13:97772914..97774476-chr13:97788808..97791555,2	MCF-7	breast:
25	chr13:97785432..97787983-chr13:97793170..97794870,3	MCF-7	breast:
26	chr13:97781642..97783757-chr13:97842419..97845411,2	MCF-7	breast:
27	chr13:97793669..97794439-chr17:4843375..4844029,2	HCT-116	colon:
28	chr13:97789069..97791800-chr13:97794910..97798178,3	K562	blood:
29	chr13:97791984..97795803-chr13:97797601..97802176,4	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBNL2-1	chr13:97798987-97799057	XLOC_010475
2	lnc-MBNL2-1	chr13:97799652-97799773	XLOC_010475
3	lnc-MBNL2-1	chr13:97799246-97799365	XLOC_010475

No data

Variant related genes	Relation type
ENSG00000233124	chromatin interactions
ENSG00000108523	chromatin interactions
ENSG00000139793	chromatin interactions
ENSG00000108528	chromatin interactions

Extended variants
information (count: 1078 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1078 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16953867	chr13:97771607-97771608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574413306	chr13:97771630-97771631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149493246	chr13:97771631-97771632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560020985	chr13:97771681-97771682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144326692	chr13:97771741-97771742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113198898	chr13:97771754-97771755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565009904	chr13:97771789-97771790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530913840	chr13:97771794-97771795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550911861	chr13:97771815-97771816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567544242	chr13:97771818-97771819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536697650	chr13:97771891-97771892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546556915	chr13:97771893-97771894	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566809732	chr13:97771978-97771979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143867046	chr13:97772050-97772051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77482956	chr13:97772080-97772081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs193292882	chr13:97772163-97772164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185153118	chr13:97772180-97772181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554693724	chr13:97772182-97772183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs116677490	chr13:97772210-97772211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561396671	chr13:97772223-97772224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540255818	chr13:97772240-97772241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76560715	chr13:97772241-97772242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9582110	chr13:97772290-97772291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545150391	chr13:97772298-97772299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546574000	chr13:97772317-97772318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75420905	chr13:97772362-97772363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114522167	chr13:97772368-97772369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544378142	chr13:97772375-97772376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377087231	chr13:97772376-97772377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112413548	chr13:97772377-97772378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146397426	chr13:97772388-97772389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546990997	chr13:97772416-97772417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189175159	chr13:97772478-97772479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74690293	chr13:97772491-97772492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532453358	chr13:97772551-97772552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372805497	chr13:97772552-97772553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370287272	chr13:97772553-97772554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532463980	chr13:97772561-97772562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551199486	chr13:97772563-97772564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531540085	chr13:97772564-97772565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569067981	chr13:97772591-97772592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7324333	chr13:97772619-97772620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112302760	chr13:97772634-97772635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142795186	chr13:97772641-97772642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533525557	chr13:97772674-97772675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553354077	chr13:97772704-97772705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181655292	chr13:97772837-97772838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs28666512	chr13:97772874-97772875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117797798	chr13:97772908-97772909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548341480	chr13:97772921-97772922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:808 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97762800-97773600	Weak transcription	K562	blood
2	chr13:97766800-97772200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr13:97766800-97778200	Weak transcription	Esophagus	oesophagus
4	chr13:97767800-97771800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:97767800-97772000	Enhancers	Rectal Smooth Muscle	rectum
6	chr13:97767800-97776600	Weak transcription	Gastric	stomach
7	chr13:97767800-97777200	Weak transcription	Fetal Kidney	kidney
8	chr13:97768000-97772800	Weak transcription	NHDF-Ad	bronchial
9	chr13:97768000-97773000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:97768000-97773000	Weak transcription	A549	lung
11	chr13:97768000-97777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:97768600-97774000	Weak transcription	Placenta	Placenta
13	chr13:97768800-97772200	Weak transcription	Brain Substantia Nigra	brain
14	chr13:97768800-97775600	Weak transcription	Lung	lung
15	chr13:97768800-97776200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:97769000-97772200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:97769000-97778400	Weak transcription	Right Atrium	heart
18	chr13:97769200-97771800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:97769200-97772200	Weak transcription	Brain Angular Gyrus	brain
20	chr13:97769200-97772600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr13:97769200-97772600	Weak transcription	HSMMtube	muscle
22	chr13:97769200-97772800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:97769200-97772800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:97769200-97772800	Weak transcription	NH-A	brain
25	chr13:97769200-97774800	Weak transcription	Brain Hippocampus Middle	brain
26	chr13:97769400-97772400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr13:97769400-97772400	Weak transcription	Osteobl	bone
28	chr13:97769400-97772600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:97769400-97772800	Weak transcription	Brain Anterior Caudate	brain
30	chr13:97769400-97772800	Weak transcription	NHLF	lung
31	chr13:97769600-97772600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:97769600-97773000	Weak transcription	HSMM	muscle
33	chr13:97769600-97774200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:97770000-97772200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:97770000-97772400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr13:97770000-97772800	Weak transcription	Hela-S3	cervix
37	chr13:97770000-97774800	Weak transcription	Stomach Mucosa	stomach
38	chr13:97770200-97773800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:97770200-97774000	Weak transcription	Right Ventricle	heart
40	chr13:97770200-97775000	Weak transcription	Aorta	Aorta
41	chr13:97770200-97775000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr13:97770200-97775000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr13:97770200-97776600	Weak transcription	Fetal Stomach	stomach
44	chr13:97770200-97777200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:97770400-97774000	Weak transcription	Fetal Heart	heart
46	chr13:97770400-97777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:97770600-97772400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:97770600-97774600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr13:97770800-97774000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr13:97770800-97775000	Weak transcription	Ovary	ovary

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