Variant report

Variant	nsv526002
Chromosome Location	chr13:91224068-91262300
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91231249..91234232-chr13:91237592..91239093,2	K562	blood:
2	chr13:91250027..91251992-chr13:91254709..91256250,2	K562	blood:
3	chr13:91243496..91244031-chr13:91519248..91519751,2	MCF-7	breast:
4	chr13:91247262..91250032-chr13:91253392..91255538,2	K562	blood:
5	chr13:91234676..91237936-chr13:91245692..91248100,3	K562	blood:
6	chr13:91217173..91220077-chr13:91222325..91225635,3	K562	blood:
7	chr13:91253046..91255941-chr13:91298469..91300971,2	K562	blood:
8	chr13:91256256..91258154-chr13:91258437..91261292,2	K562	blood:
9	chr13:91234454..91236037-chr13:91238963..91241701,2	K562	blood:
10	chr13:91231249..91234232-chr13:91237592..91239093,2	K562	blood:
11	chr13:91239288..91240866-chr13:91242926..91245401,2	K562	blood:
12	chr13:91234676..91237936-chr13:91245692..91248100,3	K562	blood:
13	chr13:91260790..91263429-chr13:91267813..91271403,3	K562	blood:
14	chr13:91242798..91245229-chr13:91248546..91250766,3	K562	blood:
15	chr13:91251912..91255941-chr13:91298469..91300971,3	K562	blood:
16	chr13:91242798..91245229-chr13:91248546..91250766,3	K562	blood:
17	chr13:91250027..91251992-chr13:91254709..91256250,2	K562	blood:
18	chr13:91238980..91241564-chr19:3983937..3985547,2	K562	blood:
19	chr13:91256519..91258426-chr13:91261599..91263621,2	K562	blood:
20	chr13:91247262..91250032-chr13:91253392..91255538,2	K562	blood:
21	chr13:91256519..91258426-chr13:91261599..91263621,2	K562	blood:
22	chr13:91256256..91258154-chr13:91258437..91261292,2	K562	blood:
23	chr13:91234454..91236037-chr13:91238963..91241701,2	K562	blood:
24	chr11:62803292..62803814-chr13:91253834..91254354,2	MCF-7	breast:
25	chr13:91239288..91240866-chr13:91242926..91245401,2	K562	blood:
26	chr13:91242211..91243772-chr13:91995826..91998214,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167658	chromatin interactions

Extended variants
information (count: 705 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534219190	chr13:91228410-91228411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs552316357	chr13:91228430-91228431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs570709634	chr13:91228441-91228442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146129577	chr13:91228465-91228466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75504140	chr13:91228488-91228489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs574295687	chr13:91228544-91228545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535138613	chr13:91228547-91228548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553849642	chr13:91228576-91228577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139914061	chr13:91228583-91228584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs545765090	chr13:91228617-91228618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367645006	chr13:91228648-91228649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563962656	chr13:91228653-91228654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577460115	chr13:91228696-91228697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544921317	chr13:91228739-91228740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61969721	chr13:91228754-91228755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530331703	chr13:91228778-91228779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546027480	chr13:91229878-91229879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192452202	chr13:91229882-91229883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531628925	chr13:91229892-91229893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138945479	chr13:91230038-91230039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549640904	chr13:91230047-91230048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567984498	chr13:91230048-91230049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9523024	chr13:91230051-91230052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547526768	chr13:91230080-91230081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565785923	chr13:91230081-91230082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539512462	chr13:91230099-91230100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557604698	chr13:91230122-91230123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569649778	chr13:91230135-91230136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537016731	chr13:91230286-91230287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199778182	chr13:91230313-91230314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116869561	chr13:91230333-91230334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144209894	chr13:91230340-91230341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183127668	chr13:91230358-91230359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369394140	chr13:91230359-91230360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561185102	chr13:91230363-91230364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554358626	chr13:91230373-91230374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571609218	chr13:91230437-91230438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372253339	chr13:91230491-91230492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572592605	chr13:91230504-91230505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187252334	chr13:91230524-91230525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577619627	chr13:91230536-91230537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546262868	chr13:91230577-91230578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564266816	chr13:91230623-91230624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559525256	chr13:91230656-91230657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537356822	chr13:91230672-91230673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147761903	chr13:91230677-91230678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543376668	chr13:91230714-91230715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561753562	chr13:91230716-91230717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191964415	chr13:91230790-91230791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73585563	chr13:91230806-91230807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91228400-91228600	ZNF genes & repeats	Pancreas	Pancrea
2	chr13:91228600-91228800	Enhancers	Pancreas	Pancrea
3	chr13:91229800-91230200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:91230200-91230600	Enhancers	Fetal Intestine Small	intestine
5	chr13:91230600-91233200	Weak transcription	Fetal Intestine Small	intestine
6	chr13:91232400-91246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:91233200-91234400	Enhancers	Fetal Intestine Small	intestine
8	chr13:91240000-91240400	Enhancers	Small Intestine	intestine
9	chr13:91241400-91245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:91242200-91244200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:91242400-91244400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:91243000-91244000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:91244000-91244200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:91244000-91244400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:91244000-91244600	Enhancers	NHEK	skin
16	chr13:91244200-91244400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:91244200-91244800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr13:91244400-91244800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:91244400-91245200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr13:91244800-91246800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:91245200-91246800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr13:91246400-91247400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr13:91246600-91247000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:91246800-91247200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr13:91246800-91247200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:91246800-91247400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:91246800-91247400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:91246800-91247400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:91246800-91247400	Enhancers	Hela-S3	cervix
30	chr13:91246800-91247400	Enhancers	HMEC	breast
31	chr13:91247000-91247400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr13:91247000-91247400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr13:91254400-91255000	Enhancers	Fetal Kidney	kidney
34	chr13:91254400-91255600	Enhancers	Fetal Lung	lung
35	chr13:91257800-91258200	Enhancers	Fetal Brain Female	brain
36	chr13:91258800-91269600	Weak transcription	Right Atrium	heart

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