Variant report

Variant	esv3518074
Chromosome Location	chr13:48881552-48882672
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	chr13:48880616..48882681-chr13:48883191..48885287,2	MCF-7	breast:
2	chr13:48875864..48881455-chr13:48881807..48887106,10	K562	blood:

Variant related genes	Relation type
ENSG00000231473	chromatin interactions
ENSG00000139687	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200027215	chr13:48881560-48881561	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200985890	chr13:48881562-48881563	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202119753	chr13:48881563-48881564	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545488881	chr13:48881581-48881582	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3092865	chr13:48881617-48881618	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577038056	chr13:48881648-48881649	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192264078	chr13:48881652-48881653	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141609827	chr13:48881653-48881654	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575745684	chr13:48881675-48881676	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184321221	chr13:48881709-48881710	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373901591	chr13:48881712-48881713	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549126809	chr13:48881718-48881719	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146247663	chr13:48881724-48881725	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531889272	chr13:48881726-48881727	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189562489	chr13:48881728-48881729	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181781596	chr13:48881729-48881730	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561377556	chr13:48881745-48881746	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538893914	chr13:48881783-48881784	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552088007	chr13:48881810-48881811	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs547042133	chr13:48881816-48881817	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs4151429	chr13:48881825-48881826	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536210453	chr13:48881827-48881828	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs554287659	chr13:48881829-48881830	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs34628526	chr13:48881834-48881835	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs11452683	chr13:48881835-48881836	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs397782403	chr13:48881852-48881853	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs367996632	chr13:48881893-48881894	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569659520	chr13:48881911-48881912	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7986430	chr13:48881979-48881980	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs79382199	chr13:48881997-48881998	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs78412403	chr13:48881998-48881999	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs75118855	chr13:48882023-48882024	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs2854354	chr13:48882024-48882025	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144138505	chr13:48882072-48882073	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541239423	chr13:48882113-48882114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554207104	chr13:48882114-48882115	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs78751426	chr13:48882186-48882187	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs539982718	chr13:48882220-48882221	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs551029169	chr13:48882277-48882278	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs186120302	chr13:48882316-48882317	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs531637100	chr13:48882324-48882325	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs148727786	chr13:48882325-48882326	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs1981435	chr13:48882342-48882343	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs2854355	chr13:48882363-48882364	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs556384718	chr13:48882396-48882397	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7323571	chr13:48882440-48882441	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189026897	chr13:48882478-48882479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs181585776	chr13:48882491-48882492	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548298230	chr13:48882505-48882506	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs569538297	chr13:48882516-48882517	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Malignant fibrous histiocytomas	21085701	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
Ovarian cancer	22355333	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
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	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
Breast cancer	22522925	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung adenocarcinoma	21151896	CNVD
Breast cancer	21518781	CNVD
Mantle cell lymphoma	21518781	CNVD
Ovarian cancer	21518781	CNVD
Retinoblastoma	21518781	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48878800-48890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:48879000-48882600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:48879000-48891000	Weak transcription	Esophagus	oesophagus
4	chr13:48879400-48883600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:48879400-48890000	Weak transcription	Fetal Brain Male	brain
6	chr13:48879400-48890000	Weak transcription	Fetal Intestine Large	intestine
7	chr13:48879400-48894200	Weak transcription	A549	lung
8	chr13:48879600-48884800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:48879600-48889400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:48879800-48892400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr13:48880000-48886000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:48880000-48888000	Weak transcription	K562	blood
13	chr13:48880000-48889400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:48880000-48892000	Weak transcription	HSMMtube	muscle
15	chr13:48880200-48881600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:48880200-48881600	Weak transcription	Fetal Stomach	stomach
17	chr13:48880200-48882800	Strong transcription	Fetal Intestine Small	intestine
18	chr13:48880200-48886800	Weak transcription	Fetal Heart	heart
19	chr13:48880200-48888000	Weak transcription	Fetal Lung	lung
20	chr13:48880200-48889200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:48880200-48890600	Weak transcription	NHLF	lung
22	chr13:48880200-48891400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr13:48880200-48892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:48880200-48892200	Weak transcription	Fetal Kidney	kidney
25	chr13:48880200-48892200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr13:48880200-48892600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:48880200-48892600	Weak transcription	NH-A	brain
28	chr13:48880200-48893800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr13:48880200-48894400	Weak transcription	Brain Anterior Caudate	brain
30	chr13:48880200-48913200	Weak transcription	Aorta	Aorta
31	chr13:48880400-48881800	Weak transcription	Liver	Liver
32	chr13:48880400-48889600	Weak transcription	Fetal Brain Female	brain
33	chr13:48880400-48890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:48880400-48890400	Weak transcription	Gastric	stomach
35	chr13:48880400-48890400	Weak transcription	Lung	lung
36	chr13:48880400-48890800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr13:48880400-48891000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr13:48880400-48891200	Weak transcription	Placenta	Placenta
39	chr13:48880400-48892400	Weak transcription	HMEC	breast
40	chr13:48880400-48892600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr13:48880600-48881600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:48880600-48881600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr13:48880600-48881600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:48880600-48881600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:48880600-48881800	Weak transcription	Fetal Muscle Leg	muscle
46	chr13:48880600-48882000	Weak transcription	Osteobl	bone
47	chr13:48880600-48882200	Weak transcription	Adipose Nuclei	Adipose
48	chr13:48880600-48882600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr13:48880600-48882600	Weak transcription	Right Atrium	heart
50	chr13:48880600-48884000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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