Variant report

Variant	nsv1044736
Chromosome Location	chr13:76728655-77066435
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6936059..6936591-chr13:76980976..76981476,2	MCF-7	breast:
2	chr13:77046183..77048967-chr13:77052263..77054471,2	K562	blood:
3	chr13:76450288..76451169-chr13:77047376..77048381,7	MCF-7	breast:
4	chr12:83286167..83286675-chr13:76878102..76878843,2	MCF-7	breast:
5	chr13:76444133..76445077-chr13:77047746..77048410,4	MCF-7	breast:
6	chr13:76269577..76270548-chr13:77047371..77048675,5	K562	blood:
7	chr13:76958717..76959218-chr20:52740046..52740742,2	MCF-7	breast:
8	chr13:76444326..76445057-chr13:77047425..77048326,2	K562	blood:
9	chr13:76613524..76614133-chr13:77047364..77048499,5	MCF-7	breast:
10	chr13:76613162..76614105-chr13:77047335..77048422,4	MCF-7	breast:
11	chr13:77046183..77048967-chr13:77052263..77054471,2	K562	blood:
12	chr13:77030664..77031519-chr4:152042346..152043287,2	MCF-7	breast:
13	chr13:76876047..76878935-chr13:77566060..77567792,2	K562	blood:
14	chr13:76969287..76969787-chr14:81735815..81736425,2	MCF-7	breast:
15	chr11:34379701..34380202-chr13:76805632..76806132,2	NB4	blood:
16	chr13:76450136..76450986-chr13:77047347..77048254,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000102805	chromatin interactions

Extended variants
information (count: 7180 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:7180 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113157459	chr13:76728659-76728660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568238756	chr13:76728662-76728663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535658106	chr13:76728672-76728673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548132941	chr13:76728692-76728693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140591344	chr13:76728695-76728696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569840711	chr13:76728760-76728761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376743110	chr13:76728775-76728776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537143188	chr13:76728805-76728806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558566541	chr13:76728832-76728833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150066567	chr13:76728916-76728917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534663698	chr13:76728918-76728919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1509276	chr13:76728919-76728920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189682783	chr13:76728930-76728931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181327742	chr13:76728938-76728939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36058850	chr13:76728955-76728956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563870100	chr13:76728981-76728982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575453667	chr13:76729025-76729026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545921858	chr13:76729028-76729029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564121527	chr13:76729030-76729031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527544906	chr13:76729035-76729036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547293258	chr13:76729053-76729054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184328400	chr13:76729074-76729075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562052435	chr13:76729106-76729107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529157095	chr13:76729131-76729132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550800739	chr13:76729144-76729145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147657639	chr13:76729162-76729163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189075192	chr13:76729199-76729200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115156482	chr13:76729202-76729203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570484560	chr13:76729281-76729282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570584509	chr13:76729305-76729306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17065809	chr13:76729308-76729309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534816008	chr13:76729328-76729329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56659291	chr13:76729350-76729351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368552518	chr13:76729394-76729395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181050660	chr13:76729431-76729432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557646365	chr13:76729439-76729440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577502918	chr13:76729488-76729489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575909960	chr13:76729498-76729499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186439122	chr13:76729522-76729523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564183385	chr13:76729548-76729549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572833361	chr13:76729572-76729573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540255558	chr13:76729578-76729579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375725227	chr13:76729579-76729580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371601839	chr13:76729617-76729618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561527014	chr13:76729634-76729635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564108711	chr13:76729777-76729778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191054540	chr13:76729800-76729801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373631931	chr13:76729866-76729867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562396975	chr13:76729872-76729873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532983474	chr13:76729873-76729874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	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
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76727800-76734200	Weak transcription	Psoas Muscle	Psoas
2	chr13:76729600-76734200	Weak transcription	Aorta	Aorta
3	chr13:76732000-76732600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr13:76732200-76732400	Enhancers	Fetal Heart	heart
5	chr13:76732200-76732800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:76732200-76732800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:76732600-76734400	Weak transcription	Fetal Heart	heart
8	chr13:76733600-76738400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:76734000-76734200	Enhancers	HSMMtube	muscle
10	chr13:76734000-76734400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:76734000-76736200	Enhancers	Fetal Stomach	stomach
12	chr13:76734200-76734400	Enhancers	Fetal Lung	lung
13	chr13:76734200-76735000	Enhancers	Left Ventricle	heart
14	chr13:76734200-76735000	Weak transcription	HSMMtube	muscle
15	chr13:76734200-76735200	Enhancers	Aorta	Aorta
16	chr13:76734200-76735200	Enhancers	Rectal Smooth Muscle	rectum
17	chr13:76734200-76735200	Enhancers	Right Ventricle	heart
18	chr13:76734200-76735600	Enhancers	Psoas Muscle	Psoas
19	chr13:76734200-76736000	Enhancers	Fetal Muscle Leg	muscle
20	chr13:76734400-76735400	Weak transcription	Fetal Lung	lung
21	chr13:76734400-76735400	Enhancers	Stomach Smooth Muscle	stomach
22	chr13:76734400-76736000	Enhancers	Fetal Heart	heart
23	chr13:76734400-76736000	Enhancers	Fetal Muscle Trunk	muscle
24	chr13:76734400-76738600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:76734800-76735200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr13:76734800-76735200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr13:76734800-76735600	Enhancers	Colon Smooth Muscle	Colon
28	chr13:76734800-76735600	Enhancers	Right Atrium	heart
29	chr13:76735000-76735600	Enhancers	HSMMtube	muscle
30	chr13:76735200-76737200	Weak transcription	Aorta	Aorta
31	chr13:76735400-76736200	Enhancers	Fetal Lung	lung
32	chr13:76735400-76738400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr13:76736000-76737800	Weak transcription	Fetal Muscle Leg	muscle
34	chr13:76736200-76737200	Weak transcription	Fetal Stomach	stomach
35	chr13:76737000-76737200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr13:76737200-76738600	Enhancers	Fetal Stomach	stomach
37	chr13:76737200-76738800	Enhancers	Aorta	Aorta
38	chr13:76737800-76738800	Enhancers	Fetal Muscle Leg	muscle
39	chr13:76738400-76738800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:76738400-76738800	Enhancers	Stomach Smooth Muscle	stomach
41	chr13:76738600-76739000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr13:76739200-76740200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:76748000-76748400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:76750000-76750600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:76759200-76760000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:76761800-76762200	Enhancers	Brain Hippocampus Middle	brain
47	chr13:76765200-76765400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:76765400-76766000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:76766000-76766200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:76769800-76774600	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links