Variant report

Variant	esv1003602
Chromosome Location	chr13:30072953-30076249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30074160..30075942-chr13:30076052..30078263,2	MCF-7	breast:
2	chr13:30074160..30075942-chr13:30076052..30078263,2	MCF-7	breast:
3	chr13:30076045..30078602-chr13:30271472..30273555,2	MCF-7	breast:
4	chr13:30070420..30074031-chr13:30074570..30077509,3	MCF-7	breast:
5	chr13:30074865..30078261-chr13:30079505..30082420,3	K562	blood:

Variant related genes	Relation type
ENSG00000132938	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562528750	chr13:30072963-30072964	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs530072282	chr13:30073009-30073010	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550260430	chr13:30073047-30073048	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368803361	chr13:30073061-30073062	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9578101	chr13:30073062-30073063	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190378753	chr13:30073258-30073259	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs914360	chr13:30073330-30073331	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565833289	chr13:30073364-30073365	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534625570	chr13:30073367-30073368	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554394775	chr13:30073379-30073380	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551258735	chr13:30073403-30073404	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181789730	chr13:30073439-30073440	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187262198	chr13:30073476-30073477	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534446915	chr13:30073498-30073499	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566382094	chr13:30073558-30073559	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191993244	chr13:30073565-30073566	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576839648	chr13:30073731-30073732	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370394513	chr13:30073745-30073746	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558903266	chr13:30073791-30073792	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572651287	chr13:30073822-30073823	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541751799	chr13:30073844-30073845	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145165799	chr13:30073862-30073863	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530159209	chr13:30073902-30073903	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377325512	chr13:30073981-30073982	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563833331	chr13:30073999-30074000	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114026130	chr13:30074008-30074009	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552610812	chr13:30074019-30074020	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559125796	chr13:30074023-30074024	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550148434	chr13:30074038-30074039	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528229408	chr13:30074106-30074107	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568560197	chr13:30074134-30074135	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548118039	chr13:30074149-30074150	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371131649	chr13:30074152-30074153	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568009142	chr13:30074179-30074180	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527346745	chr13:30074192-30074193	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180853814	chr13:30074197-30074198	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375392431	chr13:30074223-30074224	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146835557	chr13:30074225-30074226	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570391263	chr13:30074257-30074258	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547649832	chr13:30074318-30074319	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539183175	chr13:30074335-30074336	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552989636	chr13:30074343-30074344	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572689817	chr13:30074387-30074388	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113993072	chr13:30074400-30074401	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115034418	chr13:30074402-30074403	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185492374	chr13:30074441-30074442	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116603115	chr13:30074514-30074515	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543832957	chr13:30074560-30074561	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374084901	chr13:30074563-30074564	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140660153	chr13:30074614-30074615	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Autism	19492091	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30047200-30081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:30065000-30077200	Weak transcription	Fetal Brain Female	brain
4	chr13:30066400-30084400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:30070200-30073200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:30070200-30075600	Enhancers	Fetal Stomach	stomach
7	chr13:30070400-30073000	Enhancers	HSMMtube	muscle
8	chr13:30070600-30077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:30070600-30077200	Weak transcription	Brain Anterior Caudate	brain
10	chr13:30070800-30073400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:30070800-30075400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:30071000-30073000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:30071000-30074000	Weak transcription	Gastric	stomach
14	chr13:30071000-30075600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:30071000-30128800	Strong transcription	Dnd41	blood
16	chr13:30071200-30076000	Weak transcription	Fetal Brain Male	brain
17	chr13:30071600-30074000	Weak transcription	Spleen	Spleen
18	chr13:30071600-30075600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:30071600-30075600	Weak transcription	Right Ventricle	heart
20	chr13:30071600-30076800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:30071600-30077000	Weak transcription	Brain Germinal Matrix	brain
22	chr13:30071800-30073600	Weak transcription	Fetal Lung	lung
23	chr13:30071800-30074600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:30072000-30074200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:30072000-30075200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:30072000-30078400	Strong transcription	Left Ventricle	heart
27	chr13:30072000-30080400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr13:30072200-30074400	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr13:30072400-30073200	Weak transcription	Fetal Heart	heart
30	chr13:30072400-30074800	Enhancers	Pancreas	Pancrea
31	chr13:30072400-30079200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr13:30072600-30073200	Strong transcription	Aorta	Aorta
33	chr13:30072600-30075800	Genic enhancers	Fetal Muscle Leg	muscle
34	chr13:30072800-30073000	Bivalent Enhancer	Placenta	Placenta
35	chr13:30072800-30073200	Weak transcription	Ovary	ovary
36	chr13:30072800-30082600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr13:30073000-30074200	Weak transcription	HSMMtube	muscle
38	chr13:30073200-30073400	Enhancers	Ovary	ovary
39	chr13:30073200-30074200	Enhancers	Fetal Heart	heart
40	chr13:30073200-30074600	Weak transcription	Aorta	Aorta
41	chr13:30073400-30075400	Weak transcription	Ovary	ovary
42	chr13:30073800-30074000	Enhancers	Fetal Lung	lung
43	chr13:30073800-30074800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:30074000-30074200	Enhancers	Gastric	stomach
45	chr13:30074000-30074200	Enhancers	Spleen	Spleen
46	chr13:30074200-30074600	Weak transcription	Gastric	stomach
47	chr13:30074200-30074800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:30074200-30074800	Enhancers	HSMMtube	muscle
49	chr13:30074200-30075400	Weak transcription	Fetal Heart	heart
50	chr13:30074400-30074800	Enhancers	Fetal Kidney	kidney

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