Variant report

Variant	nsv1134
Chromosome Location	chr13:96007857-96030926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96010392..96012474-chr13:96022109..96025076,2	K562	blood:
2	chr13:96010392..96012474-chr13:96022109..96025076,2	K562	blood:

Extended variants
information (count: 834 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:834 , 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	rs1766907	chr13:96007873-96007874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146435197	chr13:96007895-96007896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147874237	chr13:96007905-96007906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1933666	chr13:96007909-96007910	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1933665	chr13:96007919-96007920	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560514624	chr13:96007991-96007992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577416034	chr13:96007994-96007995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545895109	chr13:96008039-96008040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562606446	chr13:96008043-96008044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540096766	chr13:96008085-96008086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191720863	chr13:96008111-96008112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548229996	chr13:96008127-96008128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7998841	chr13:96008141-96008142	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527581699	chr13:96008142-96008143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547714442	chr13:96008166-96008167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140653435	chr13:96008186-96008187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7998871	chr13:96008189-96008190	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150470982	chr13:96008325-96008326	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535671258	chr13:96008376-96008377	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs138278353	chr13:96008387-96008388	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs7342420	chr13:96008394-96008395	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554673535	chr13:96008419-96008420	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149606128	chr13:96008466-96008467	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534223402	chr13:96008476-96008477	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554479116	chr13:96008485-96008486	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143508705	chr13:96008515-96008516	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137949878	chr13:96008565-96008566	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142437864	chr13:96008579-96008580	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116037076	chr13:96008587-96008588	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553386973	chr13:96008669-96008670	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576506215	chr13:96008685-96008686	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545539651	chr13:96008745-96008746	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527309713	chr13:96008760-96008761	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367763607	chr13:96008804-96008805	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556707494	chr13:96008805-96008806	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564418572	chr13:96008819-96008820	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532931551	chr13:96008846-96008847	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1764426	chr13:96008860-96008861	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542410388	chr13:96008867-96008868	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568967820	chr13:96008875-96008876	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369126279	chr13:96008876-96008877	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548712618	chr13:96008881-96008882	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139811223	chr13:96008882-96008883	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534236047	chr13:96008896-96008897	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141350963	chr13:96008902-96008903	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112883805	chr13:96008951-96008952	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564521049	chr13:96008955-96008956	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539993646	chr13:96008956-96008957	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9561857	chr13:96008958-96008959	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576755988	chr13:96008959-96008960	Weak transcription ZNF genes & repeats Enhancers	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
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	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
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96005200-96008000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:96006000-96008000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:96006000-96008200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:96006000-96008400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:96006400-96009600	Enhancers	Liver	Liver
6	chr13:96006600-96008000	Enhancers	Brain Anterior Caudate	brain
7	chr13:96006600-96008200	Enhancers	Stomach Mucosa	stomach
8	chr13:96006800-96008000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:96006800-96008000	Enhancers	Brain Substantia Nigra	brain
10	chr13:96006800-96008200	Enhancers	HUVEC	blood vessel
11	chr13:96006800-96008400	Enhancers	Fetal Stomach	stomach
12	chr13:96007000-96008200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:96007000-96008200	Enhancers	Fetal Kidney	kidney
14	chr13:96007000-96008200	Enhancers	Fetal Lung	lung
15	chr13:96007000-96008400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:96007000-96009600	Weak transcription	K562	blood
17	chr13:96007200-96008200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:96007200-96008400	Enhancers	NH-A	brain
19	chr13:96007400-96008000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:96007400-96008200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr13:96007600-96008200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:96007600-96008200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr13:96007600-96011600	Weak transcription	HepG2	liver
24	chr13:96007800-96008200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:96008000-96008200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:96008000-96010600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:96008200-96009200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:96008200-96010000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:96008200-96010200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:96008200-96010600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:96009200-96009400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:96009400-96009600	Weak transcription	Fetal Kidney	kidney
33	chr13:96009600-96010800	Enhancers	K562	blood
34	chr13:96010000-96010600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:96010000-96010800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:96010200-96011200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr13:96010200-96014000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:96010600-96011400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:96010600-96011400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:96010600-96012200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:96010800-96011600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:96011200-96012200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr13:96011400-96012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:96011400-96012800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:96011600-96013200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:96012000-96012400	Enhancers	Fetal Kidney	kidney
47	chr13:96012200-96012600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:96012200-96012800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:96012200-96013000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:96012200-96013000	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links