Variant report

Variant	nsv1049684
Chromosome Location	chr13:70126871-70333445
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:70139358..70139986-chr13:70431208..70431784,2	MCF-7	breast:
2	chr13:70159737..70160485-chr3:63899719..63900444,2	MCF-7	breast:
3	chr13:70271603..70273702-chr13:70276559..70278431,2	K562	blood:
4	chr13:70145786..70147691-chr13:70150305..70153180,2	K562	blood:
5	chr13:70138280..70140328-chr13:70148714..70150548,2	MCF-7	breast:
6	chr13:70153553..70154097-chr13:70431151..70432026,2	MCF-7	breast:
7	chr13:70192216..70195164-chr13:70199916..70202276,2	MCF-7	breast:
8	chr13:70281102..70281979-chr16:2731851..2732580,2	MCF-7	breast:
9	chr13:70145786..70147691-chr13:70150305..70153180,2	K562	blood:
10	chr13:70207003..70207565-chr6:110796356..110796874,2	MCF-7	breast:
11	chr13:70159894..70160626-chr13:70431095..70431958,2	MCF-7	breast:
12	chr13:70138280..70140328-chr13:70148714..70150548,2	MCF-7	breast:
13	chr11:65198093..65198776-chr13:70273636..70274136,2	Hela-S3	cervix:
14	chr13:70249631..70251882-chr13:70253333..70255746,2	K562	blood:
15	chr13:70139732..70140265-chr13:71142279..71142907,2	MCF-7	breast:
16	chr13:70249631..70251882-chr13:70253333..70255746,2	K562	blood:
17	chr13:70271603..70273702-chr13:70276559..70278431,2	K562	blood:
18	chr13:70192216..70195164-chr13:70199916..70202276,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167977	chromatin interactions

Extended variants
information (count: 3220 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:3220 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562598557	chr13:70129029-70129030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185445108	chr13:70129068-70129069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548150271	chr13:70129069-70129070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35820889	chr13:70129096-70129097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568024732	chr13:70129173-70129174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149198382	chr13:70129175-70129176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547664751	chr13:70129193-70129194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189954057	chr13:70129197-70129198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539618993	chr13:70129234-70129235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182220660	chr13:70129236-70129237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575678755	chr13:70129262-70129263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34404736	chr13:70129297-70129298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531961181	chr13:70129316-70129317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532158	chr13:70129415-70129416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535304679	chr13:70129418-70129419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186555958	chr13:70129453-70129454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192353120	chr13:70129472-70129473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374903311	chr13:70129493-70129494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183797355	chr13:70129507-70129508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540536293	chr13:70129511-70129512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554036806	chr13:70129512-70129513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577410328	chr13:70129529-70129530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546354903	chr13:70129617-70129618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564517427	chr13:70129630-70129631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369734778	chr13:70129639-70129640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200377461	chr13:70129682-70129683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112304708	chr13:70129732-70129733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2480955	chr13:70129742-70129743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188760665	chr13:70129782-70129783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527241759	chr13:70129789-70129790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9541973	chr13:70129815-70129816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2480956	chr13:70129840-70129841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs146752845	chr13:70129853-70129854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549963367	chr13:70129906-70129907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569725740	chr13:70129937-70129938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59251449	chr13:70129947-70129948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538342155	chr13:70129984-70129985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554605122	chr13:70129999-70130000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139389380	chr13:70130043-70130044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533927934	chr13:70130059-70130060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554069697	chr13:70130060-70130061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377418505	chr13:70130109-70130110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573844094	chr13:70130114-70130115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143276064	chr13:70130157-70130158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556738193	chr13:70130213-70130214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192895551	chr13:70130302-70130303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541954345	chr13:70130318-70130319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561756037	chr13:70130371-70130372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184316918	chr13:70130389-70130390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116053028	chr13:70130399-70130400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70129000-70129200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:70129200-70137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:70130200-70131000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:70130400-70131000	Enhancers	Hela-S3	cervix
5	chr13:70136800-70137000	Enhancers	Lung	lung
6	chr13:70145600-70146000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr13:70145600-70146400	Enhancers	Liver	Liver
8	chr13:70153600-70154600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:70153600-70155000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:70153600-70155200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:70153800-70154200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:70153800-70154200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:70153800-70154600	Enhancers	Liver	Liver
14	chr13:70153800-70154800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:70153800-70154800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:70153800-70155000	Enhancers	HMEC	breast
17	chr13:70153800-70155200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:70154000-70154200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:70154000-70154600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:70154000-70154800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:70154200-70154800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr13:70154200-70154800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr13:70154200-70154800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:70154200-70156000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:70154600-70155000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:70155000-70159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr13:70155200-70159600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:70156000-70156600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:70156600-70159600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:70159600-70159800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:70159600-70160000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr13:70159600-70160200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr13:70160200-70163800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr13:70161200-70161400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:70162800-70163600	Enhancers	Liver	Liver
36	chr13:70163400-70164800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:70163600-70165000	Weak transcription	Liver	Liver
38	chr13:70163800-70164200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr13:70165000-70167400	Enhancers	Liver	Liver
40	chr13:70167400-70168600	Weak transcription	Liver	Liver
41	chr13:70168600-70171000	Enhancers	Liver	Liver
42	chr13:70169400-70169600	Enhancers	Pancreas	Pancrea
43	chr13:70169600-70177400	Weak transcription	Pancreas	Pancrea
44	chr13:70174000-70174200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:70174200-70176000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:70175200-70175400	Enhancers	Fetal Heart	heart
47	chr13:70175200-70176000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:70175400-70175800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr13:70175800-70183400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr13:70176000-70177800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links