Variant report

Variant	nsv1046167
Chromosome Location	chr13:90652104-90700796
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	chr13:90682063..90683657-chr13:90684958..90687668,2	K562	blood:
2	chr13:90657506..90660360-chr13:90660481..90662181,2	K562	blood:
3	chr13:90666797..90668526-chr13:90671482..90673730,2	K562	blood:
4	chr13:90667886..90670751-chr13:90674411..90676398,2	K562	blood:
5	chr13:90680961..90684661-chr13:90686168..90687885,3	K562	blood:
6	chr13:90687289..90689665-chr13:90743498..90745958,2	K562	blood:
7	chr13:90658350..90660347-chr13:90668884..90670717,2	K562	blood:
8	chr13:90676596..90678384-chr13:91998649..92001397,2	K562	blood:
9	chr13:90658350..90660347-chr13:90668884..90670717,2	K562	blood:
10	chr13:90657506..90660360-chr13:90660481..90662181,2	K562	blood:
11	chr13:90666797..90668526-chr13:90671482..90673730,2	K562	blood:
12	chr13:90686920..90689377-chr13:90707957..90709473,2	K562	blood:
13	chr13:90680163..90682720-chr13:90682917..90684515,2	MCF-7	breast:
14	chr13:90680961..90684661-chr13:90686168..90687885,3	K562	blood:
15	chr13:90682063..90683657-chr13:90684958..90687668,2	K562	blood:
16	chr13:90667886..90670751-chr13:90674411..90676398,2	K562	blood:
17	chr13:90645856..90648363-chr13:90649995..90652582,2	K562	blood:
18	chr13:90680163..90682720-chr13:90682917..90684515,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 549 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183700798	chr13:90659475-90659476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78431278	chr13:90659476-90659477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186584397	chr13:90659512-90659513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559509632	chr13:90659554-90659555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2794497	chr13:90659555-90659556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544662838	chr13:90659562-90659563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17664303	chr13:90659602-90659603	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs60992336	chr13:90659621-90659622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1935186	chr13:90659642-90659643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199708587	chr13:90659655-90659656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548191345	chr13:90659664-90659665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1935185	chr13:90659672-90659673	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527569012	chr13:90659787-90659788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144117489	chr13:90659881-90659882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570434521	chr13:90659891-90659892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537561240	chr13:90659904-90659905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9583761	chr13:90659938-90659939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569356294	chr13:90659988-90659989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190431580	chr13:90659993-90659994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144978006	chr13:90659995-90659996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573232936	chr13:90659996-90659997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2794496	chr13:90660090-90660091	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567574737	chr13:90660096-90660097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17720771	chr13:90660127-90660128	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577132739	chr13:90660166-90660167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544387648	chr13:90660174-90660175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558919835	chr13:90660179-90660180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574833256	chr13:90660195-90660196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542080844	chr13:90660200-90660201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34100150	chr13:90660238-90660239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560368124	chr13:90660381-90660382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149111884	chr13:90660398-90660399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114295574	chr13:90660414-90660415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564082523	chr13:90660424-90660425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181742531	chr13:90660457-90660458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114575546	chr13:90660464-90660465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142202475	chr13:90660485-90660486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184384335	chr13:90660507-90660508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368572125	chr13:90660528-90660529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372705768	chr13:90660529-90660530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10628112	chr13:90660530-90660531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55894418	chr13:90660541-90660542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188747519	chr13:90660577-90660578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56373203	chr13:90660624-90660625	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs151218604	chr13:90660643-90660644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558784862	chr13:90660656-90660657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1417937	chr13:90660669-90660670	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74568779	chr13:90660687-90660688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368039867	chr13:90660744-90660745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79603316	chr13:90660753-90660754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Small bowel adenocarcinoma	21586687	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90659400-90659600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:90659600-90659800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:90659600-90660600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:90659600-90661800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:90659800-90660800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:90659800-90661000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:90660000-90661000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:90660000-90661200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:90660600-90661200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:90660800-90661000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:90660800-90661200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr13:90660800-90661400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:90660800-90662000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:90661000-90661400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr13:90661000-90661400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr13:90661000-90661400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr13:90661000-90661400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr13:90661000-90661400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr13:90661000-90661400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr13:90661000-90661800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr13:90661200-90661600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr13:90661400-90661600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr13:90661400-90662200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr13:90661400-90662200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:90661600-90661800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr13:90661800-90664000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr13:90664000-90664200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr13:90664200-90664600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr13:90664600-90665200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr13:90668200-90668600	Enhancers	NH-A	brain
31	chr13:90672400-90672800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:90672600-90673000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:90672800-90673400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:90673000-90673400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:90673400-90673600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:90673400-90673600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:90679800-90680200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:90685400-90685600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr13:90694600-90697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr13:90699200-90700800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:90699400-90701200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr13:90699400-90701200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr13:90699800-90700600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr13:90699800-90701400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:90700000-90700200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:90700000-90700600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:90700200-90700600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr13:90700600-90701600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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