Variant report

Variant	esv3495984
Chromosome Location	chr13:49181790-49222165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49212874..49214823-chr13:49219265..49221630,2	K562	blood:
2	chr13:49212874..49214823-chr13:49219265..49221630,2	K562	blood:
3	chr13:49213689..49215557-chr13:49216870..49218702,2	K562	blood:
4	chr13:49221601..49222385-chr13:49305871..49306516,2	MCF-7	breast:
5	chr13:49213689..49215557-chr13:49216870..49218702,2	K562	blood:
6	chr13:49217399..49217979-chr13:49342910..49343628,2	MCF-7	breast:

Extended variants
information (count: 1520 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1520 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9595938	chr13:49183429-49183430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561522540	chr13:49183444-49183445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187339858	chr13:49183451-49183452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374861399	chr13:49183552-49183553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117009730	chr13:49183576-49183577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1575921	chr13:49183598-49183599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532024670	chr13:49183627-49183628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150854249	chr13:49183633-49183634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571849528	chr13:49183716-49183717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1854017	chr13:49183742-49183743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs575697246	chr13:49183745-49183746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553866803	chr13:49183786-49183787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544241890	chr13:49183800-49183801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139301956	chr13:49183809-49183810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74539826	chr13:49183855-49183856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562584378	chr13:49183895-49183896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144452543	chr13:49183955-49183956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576299507	chr13:49183997-49183998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191760364	chr13:49184151-49184152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543685451	chr13:49184157-49184158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558497966	chr13:49184161-49184162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75689449	chr13:49184227-49184228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545109628	chr13:49184233-49184234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60240141	chr13:49184297-49184298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201459936	chr13:49184407-49184408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114941602	chr13:49184434-49184435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61019196	chr13:49184486-49184487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115481636	chr13:49184538-49184539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146600147	chr13:49184555-49184556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577665434	chr13:49184582-49184583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531941315	chr13:49184618-49184619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143916552	chr13:49184678-49184679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545672557	chr13:49184679-49184680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117369801	chr13:49184700-49184701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528239803	chr13:49184710-49184711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189194346	chr13:49184713-49184714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35876393	chr13:49184722-49184723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74395120	chr13:49184732-49184733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533843518	chr13:49184759-49184760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536335049	chr13:49184761-49184762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs8000152	chr13:49184780-49184781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs145851247	chr13:49184808-49184809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536967339	chr13:49184843-49184844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558390332	chr13:49184851-49184852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576632184	chr13:49184869-49184870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534553151	chr13:49184902-49184903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192626632	chr13:49185031-49185032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572243114	chr13:49185036-49185037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185610976	chr13:49185055-49185056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189256081	chr13:49185084-49185085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Chronic myeloid leukemia	21384125	CNVD
Sezary syndrome	18413736	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49183400-49189200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:49186200-49187600	Enhancers	Placenta	Placenta
3	chr13:49188600-49189800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr13:49189000-49189800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr13:49189000-49190400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:49189200-49189600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:49189200-49189600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:49189200-49189800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr13:49190400-49192200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr13:49192200-49192400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:49192400-49193000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr13:49193000-49196400	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr13:49193200-49193400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:49193400-49193800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:49193400-49196200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:49194200-49194400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:49194200-49197200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:49194400-49195000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr13:49194600-49196400	Enhancers	Stomach Mucosa	stomach
20	chr13:49195000-49197600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr13:49195400-49197000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr13:49195800-49197800	ZNF genes & repeats	Dnd41	blood
23	chr13:49196200-49196800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:49196400-49199800	Weak transcription	Stomach Mucosa	stomach
25	chr13:49196600-49201800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:49196800-49205600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:49197000-49198600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr13:49197200-49197600	Weak transcription	Fetal Intestine Small	intestine
29	chr13:49197400-49202000	Enhancers	Ovary	ovary
30	chr13:49197600-49198200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr13:49197600-49202200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr13:49197800-49198200	Enhancers	Pancreas	Pancrea
33	chr13:49197800-49199800	Enhancers	Brain Hippocampus Middle	brain
34	chr13:49197800-49200400	Enhancers	Dnd41	blood
35	chr13:49197800-49202000	Enhancers	Placenta	Placenta
36	chr13:49198000-49199000	Enhancers	Brain Angular Gyrus	brain
37	chr13:49198000-49199200	Enhancers	Brain Substantia Nigra	brain
38	chr13:49198000-49205000	Enhancers	Fetal Intestine Large	intestine
39	chr13:49198200-49198400	Enhancers	K562	blood
40	chr13:49198200-49199400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr13:49198200-49199400	Weak transcription	Pancreas	Pancrea
42	chr13:49198200-49199800	Enhancers	Brain Cingulate Gyrus	brain
43	chr13:49198400-49199400	Weak transcription	K562	blood
44	chr13:49198400-49200000	Enhancers	Brain Anterior Caudate	brain
45	chr13:49198400-49201200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr13:49198600-49199400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr13:49198800-49199400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:49199000-49199600	Enhancers	HepG2	liver
49	chr13:49199000-49200000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:49199000-49200800	Enhancers	Hela-S3	cervix

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