Variant report

Variant	nsv1050202
Chromosome Location	chr13:93961478-93982388
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:93978514..93980606-chr9:134150667..134152493,2	K562	blood:
2	chr13:93971681..93973472-chr13:93989154..93990782,2	K562	blood:
3	chr13:93971946..93973781-chr13:93991313..93994089,2	K562	blood:
4	chr13:93968945..93970649-chr13:93985808..93988147,2	K562	blood:
5	chr13:93963069..93968175-chr13:93968737..93971609,6	K562	blood:
6	chr13:93964723..93967085-chr13:108503878..108506651,2	K562	blood:
7	chr13:93961269..93969594-chr13:93973410..93977735,11	K562	blood:
8	chr13:93877153..93879625-chr13:93977425..93979479,3	MCF-7	breast:
9	chr13:93971466..93973630-chr13:94008916..94010635,2	K562	blood:
10	chr13:93962460..93964812-chr13:93979944..93982073,2	K562	blood:
11	chr13:93958708..93961439-chr13:93968600..93970133,2	K562	blood:
12	chr13:93977629..93980676-chr13:93981025..93983333,3	K562	blood:
13	chr13:93977629..93980676-chr13:93981025..93983333,3	K562	blood:
14	chr13:93963069..93968175-chr13:93968737..93971609,6	K562	blood:
15	chr13:93963826..93965366-chr13:93969759..93971609,2	K562	blood:
16	chr13:93980175..93982832-chr13:93987646..93990345,3	K562	blood:
17	chr13:93870748..93872599-chr13:93963716..93966106,2	K562	blood:
18	chr13:93979914..93981484-chr13:93985031..93987151,2	K562	blood:
19	chr13:93975713..93977333-chr9:134000453..134002028,2	K562	blood:
20	chr13:93980175..93981907-chr13:93988845..93990835,2	K562	blood:
21	chr13:93977966..93980099-chr13:93991360..93994357,2	K562	blood:
22	chr13:93963378..93968505-chr13:93974566..93977658,4	K562	blood:
23	chr13:93976016..93978454-chr13:94013289..94015025,2	K562	blood:
24	chr13:93963826..93965366-chr13:93969759..93971609,2	K562	blood:
25	chr13:93965717..93968015-chr13:108517543..108519565,2	K562	blood:
26	chr13:93953293..93954914-chr13:93971017..93973677,2	K562	blood:
27	chr13:93975407..93977294-chr13:93983328..93985446,2	K562	blood:
28	chr13:93962460..93964812-chr13:93979944..93982073,2	K562	blood:
29	chr13:93975150..93977138-chr13:93989003..93991236,2	K562	blood:
30	chr13:93960806..93963273-chr13:94011770..94013409,2	K562	blood:
31	chr13:93974210..93976975-chr13:93986030..93988767,2	K562	blood:
32	chr13:93969124..93971433-chr9:134150547..134152768,2	K562	blood:
33	chr13:93963378..93968505-chr13:93974566..93977658,4	K562	blood:
34	chr13:93970087..93972348-chr13:93976027..93978960,2	K562	blood:
35	chr13:93953493..93955250-chr13:93979792..93982603,2	K562	blood:
36	chr13:93972162..93973927-chr9:134107503..134110026,2	K562	blood:
37	chr13:93969120..93972348-chr13:93976896..93981024,5	K562	blood:
38	chr13:93982327..93985980-chr9:134148007..134150497,3	K562	blood:
39	chr13:93961269..93969594-chr13:93973410..93977735,11	K562	blood:
40	chr13:93969120..93972348-chr13:93976896..93981024,5	K562	blood:
41	chr13:93878631..93880331-chr13:93976450..93979283,3	MCF-7	breast:
42	chr13:93971014..93972548-chr9:134153245..134155429,2	K562	blood:
43	chr13:93970087..93972348-chr13:93976027..93978960,2	K562	blood:
44	chr13:93878090..93881200-chr13:93981546..93984574,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000126883	chromatin interactions
ENSG00000126882	chromatin interactions
ENSG00000204442	chromatin interactions
ENSG00000183098	chromatin interactions

Extended variants
information (count: 829 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:829 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7996507	chr13:93961478-93961479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193227457	chr13:93961482-93961483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6492658	chr13:93961501-93961502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34106552	chr13:93961543-93961544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560082805	chr13:93961568-93961569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201190270	chr13:93961618-93961619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150978592	chr13:93961682-93961683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576812547	chr13:93961718-93961719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545922094	chr13:93961737-93961738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182597346	chr13:93961788-93961789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530773233	chr13:93961798-93961799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74110510	chr13:93961835-93961836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112045741	chr13:93961842-93961843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80232424	chr13:93961846-93961847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35482480	chr13:93961853-93961854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191257790	chr13:93961881-93961882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546631886	chr13:93961898-93961899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184081440	chr13:93961921-93961922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142440178	chr13:93961933-93961934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552344005	chr13:93961942-93961943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568934118	chr13:93961949-93961950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538437759	chr13:93962005-93962006	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188475921	chr13:93962016-93962017	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs151328824	chr13:93962020-93962021	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs192930805	chr13:93962027-93962028	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs185164414	chr13:93962037-93962038	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554022577	chr13:93962049-93962050	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs560090529	chr13:93962066-93962067	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576873740	chr13:93962091-93962092	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs545782741	chr13:93962180-93962181	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562651603	chr13:93962189-93962190	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs1886206	chr13:93962201-93962202	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112778687	chr13:93962227-93962228	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544415814	chr13:93962251-93962252	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548163962	chr13:93962302-93962303	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562071414	chr13:93962334-93962335	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190393107	chr13:93962343-93962344	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374477346	chr13:93962358-93962359	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532698200	chr13:93962366-93962367	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17300101	chr13:93962386-93962387	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532157411	chr13:93962438-93962439	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs562985242	chr13:93962466-93962467	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182225045	chr13:93962489-93962490	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12853940	chr13:93962520-93962521	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs531275386	chr13:93962533-93962534	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs527785681	chr13:93962542-93962543	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs112925234	chr13:93962600-93962601	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs185518251	chr13:93962609-93962610	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376782050	chr13:93962629-93962630	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554083923	chr13:93962683-93962684	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	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

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93943600-93962200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:93952400-93965000	Weak transcription	Fetal Kidney	kidney
3	chr13:93957400-93962000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:93957600-93968400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:93957800-93962000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:93957800-93962200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:93958000-93962200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:93958200-93962400	Weak transcription	Fetal Brain Female	brain
9	chr13:93958200-93969800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:93958600-93962200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:93958800-93962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:93959200-93961800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:93959600-93962000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:93960000-93962000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:93960000-93962000	Weak transcription	Osteobl	bone
16	chr13:93960400-93962200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:93961000-93962200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:93961800-93962000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:93961800-93963000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr13:93962000-93962200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:93962000-93962200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:93962000-93962200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:93962000-93962400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:93962000-93962400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:93962000-93962600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:93962000-93962600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr13:93962000-93962800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:93962000-93962800	Enhancers	Osteobl	bone
29	chr13:93962200-93962400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:93962200-93962400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:93962200-93962400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:93962200-93962600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:93962200-93962600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:93962200-93962600	Enhancers	Brain Hippocampus Middle	brain
35	chr13:93962200-93962600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr13:93962200-93962800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:93962200-93962800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:93962200-93962800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:93962200-93962800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:93962400-93962600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:93962400-93962600	Enhancers	Fetal Brain Male	brain
42	chr13:93962400-93962800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:93962400-93962800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:93962400-93962800	Enhancers	Fetal Brain Female	brain
45	chr13:93962600-93962800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:93962600-93962800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:93962600-93962800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr13:93962600-93964400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr13:93962600-93968400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr13:93962800-93963000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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