Variant report

Variant	esv3321803
Chromosome Location	chr13:30131202-30134550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30132857..30135227-chr13:30168652..30170927,2	MCF-7	breast:
2	chr13:30122738..30124853-chr13:30133655..30135999,2	MCF-7	breast:
3	chr13:30128662..30130229-chr13:30134308..30136024,2	K562	blood:

Variant related genes	Relation type
ENSG00000139514	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563872561	chr13:30131285-30131286	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372703919	chr13:30131294-30131295	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144449243	chr13:30131295-30131296	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35926133	chr13:30131296-30131297	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55651725	chr13:30131304-30131305	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187850887	chr13:30131338-30131339	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559887788	chr13:30131339-30131340	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549229543	chr13:30131371-30131372	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139379923	chr13:30131406-30131407	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548865112	chr13:30131491-30131492	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568633540	chr13:30131570-30131571	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530944470	chr13:30131684-30131685	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144150874	chr13:30131707-30131708	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146474407	chr13:30131733-30131734	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191106873	chr13:30131769-30131770	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374630780	chr13:30131810-30131811	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112946797	chr13:30131816-30131817	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538209832	chr13:30131830-30131831	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12868663	chr13:30131894-30131895	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535250158	chr13:30131895-30131896	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12868785	chr13:30131915-30131916	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182243828	chr13:30131931-30131932	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555648469	chr13:30131957-30131958	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578015933	chr13:30131987-30131988	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538427696	chr13:30132027-30132028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535870848	chr13:30132049-30132050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186982922	chr13:30132068-30132069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201905624	chr13:30132087-30132088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114211368	chr13:30132129-30132130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111205460	chr13:30132142-30132143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200115735	chr13:30132223-30132224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557324321	chr13:30132232-30132233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149467346	chr13:30132238-30132239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377280765	chr13:30132242-30132243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192799370	chr13:30132257-30132258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377228468	chr13:30132262-30132263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111216673	chr13:30132363-30132364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577358466	chr13:30132383-30132384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539948655	chr13:30132384-30132385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62647022	chr13:30132475-30132476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559944077	chr13:30132480-30132481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368795409	chr13:30132505-30132506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371470265	chr13:30132506-30132507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62647023	chr13:30132531-30132532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185198234	chr13:30132536-30132537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542024411	chr13:30132556-30132557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189637771	chr13:30132571-30132572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367549343	chr13:30132617-30132618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371767350	chr13:30132626-30132627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190131360	chr13:30132657-30132658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:30103800-30137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:30104200-30135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:30105200-30136800	Weak transcription	Brain Germinal Matrix	brain
6	chr13:30113200-30141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:30113800-30136200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:30122600-30131600	Weak transcription	Small Intestine	intestine
9	chr13:30123000-30138600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:30123600-30136200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:30125000-30137200	Weak transcription	Brain Anterior Caudate	brain
12	chr13:30125000-30147400	Weak transcription	A549	lung
13	chr13:30125800-30136600	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:30125800-30142200	Weak transcription	K562	blood
15	chr13:30125800-30143200	Weak transcription	Gastric	stomach
16	chr13:30126000-30135800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:30126000-30137000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:30126000-30138400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
20	chr13:30126200-30137200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr13:30126200-30147200	Weak transcription	Spleen	Spleen
22	chr13:30126600-30136000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr13:30126600-30136000	Weak transcription	HUVEC	blood vessel
24	chr13:30126800-30135200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr13:30127400-30142200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:30127600-30135400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:30127600-30135800	Weak transcription	HSMM	muscle
28	chr13:30127600-30137200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr13:30127600-30137800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr13:30127600-30144000	Weak transcription	Fetal Intestine Small	intestine
31	chr13:30127600-30146200	Weak transcription	Right Ventricle	heart
32	chr13:30127600-30151400	Weak transcription	Aorta	Aorta
33	chr13:30127600-30156400	Weak transcription	Lung	lung
34	chr13:30127800-30135800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr13:30127800-30135800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr13:30127800-30136200	Weak transcription	Ovary	ovary
37	chr13:30127800-30136800	Weak transcription	Brain Angular Gyrus	brain
38	chr13:30127800-30137200	Weak transcription	Pancreas	Pancrea
39	chr13:30127800-30137800	Weak transcription	Brain Substantia Nigra	brain
40	chr13:30127800-30137800	Weak transcription	Colon Smooth Muscle	Colon
41	chr13:30127800-30143200	Weak transcription	Fetal Thymus	thymus
42	chr13:30127800-30147400	Weak transcription	Fetal Intestine Large	intestine
43	chr13:30127800-30147600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr13:30128000-30134600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:30128000-30136000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:30128000-30136000	Weak transcription	HMEC	breast
47	chr13:30128000-30136000	Weak transcription	Osteobl	bone
48	chr13:30128000-30136200	Weak transcription	HepG2	liver
49	chr13:30128000-30136600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr13:30128000-30139400	Weak transcription	Left Ventricle	heart

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