Variant report

Variant	nsv561590
Chromosome Location	chr13:48350699-48399027
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:0)
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	chr13:48338058..48339804-chr13:48349149..48350961,2	K562	blood:
2	chr13:48371410..48374198-chr13:48468261..48469829,2	MCF-7	breast:
3	chr13:48373048..48373868-chr13:48611844..48612676,2	MCF-7	breast:
4	chr13:48380767..48383194-chr13:48392784..48395311,2	MCF-7	breast:
5	chr13:48380767..48383194-chr13:48392784..48395311,2	MCF-7	breast:
6	chr13:48373223..48373750-chr13:48512933..48513507,2	MCF-7	breast:
7	chr13:48372840..48373623-chr13:48512914..48513683,3	MCF-7	breast:
8	chr13:48373135..48373727-chr13:48561238..48561832,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136143	chromatin interactions

Extended variants
information (count: 1298 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:1298 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2147493	chr13:48350699-48350700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80100204	chr13:48350729-48350730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9595781	chr13:48350740-48350741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569032951	chr13:48350754-48350755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74965226	chr13:48350773-48350774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563194905	chr13:48350801-48350802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80236396	chr13:48350830-48350831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183841893	chr13:48350859-48350860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571548169	chr13:48350881-48350882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61972173	chr13:48350895-48350896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551634593	chr13:48350984-48350985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375025347	chr13:48351000-48351001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566299395	chr13:48351004-48351005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536796859	chr13:48351036-48351037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555312485	chr13:48351037-48351038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567145750	chr13:48351058-48351059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9534822	chr13:48351114-48351115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189530466	chr13:48351172-48351173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537343605	chr13:48351174-48351175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7992011	chr13:48351177-48351178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116298668	chr13:48351185-48351186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150169840	chr13:48351186-48351187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138620630	chr13:48351201-48351202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149357058	chr13:48351232-48351233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541586147	chr13:48351259-48351260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9534823	chr13:48351288-48351289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145622228	chr13:48351317-48351318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373519691	chr13:48351333-48351334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545757698	chr13:48351342-48351343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536287997	chr13:48351375-48351376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138197291	chr13:48351396-48351397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538453136	chr13:48351434-48351435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9534824	chr13:48351446-48351447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs575269946	chr13:48351515-48351516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547872136	chr13:48351537-48351538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569440667	chr13:48351538-48351539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78729340	chr13:48351562-48351563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77959123	chr13:48351564-48351565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57830859	chr13:48351609-48351610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs78058215	chr13:48351622-48351623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79248068	chr13:48351624-48351625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75248544	chr13:48351641-48351642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75702911	chr13:48351671-48351672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79698581	chr13:48351673-48351674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78750516	chr13:48351676-48351677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560761518	chr13:48351682-48351683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7997926	chr13:48351692-48351693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548844343	chr13:48351703-48351704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558197467	chr13:48351861-48351862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146090063	chr13:48351908-48351909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
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
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48350400-48356000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:48354800-48355000	Enhancers	Fetal Kidney	kidney
3	chr13:48356000-48356400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr13:48365200-48366000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:48366000-48375800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:48370200-48371000	Enhancers	HSMM	muscle
7	chr13:48372400-48373000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:48375800-48376000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:48376000-48383200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:48376600-48377800	Enhancers	Fetal Kidney	kidney
11	chr13:48376800-48377400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:48377400-48387800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:48381000-48387400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:48382000-48385400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:48383200-48383400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:48383200-48383800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:48383400-48387400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:48383400-48387600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:48383600-48383800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr13:48383600-48383800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:48383600-48383800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr13:48383600-48384000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:48383800-48384800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr13:48383800-48388400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:48384000-48387600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:48384400-48385400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr13:48384800-48385000	Enhancers	Brain Germinal Matrix	brain
28	chr13:48384800-48385400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:48384800-48385600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:48385000-48385600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr13:48385000-48392600	Weak transcription	Brain Germinal Matrix	brain
32	chr13:48385400-48385600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr13:48385400-48387600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr13:48385400-48387600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:48385600-48386000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr13:48385600-48387400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr13:48385600-48387600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr13:48386000-48387000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr13:48387000-48392600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr13:48387400-48387800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr13:48387400-48389000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:48387400-48391800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr13:48387600-48387800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr13:48387600-48388000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr13:48387600-48388200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr13:48387600-48388600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:48387600-48388600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:48387600-48388800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr13:48387600-48388800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr13:48387600-48388800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links