Variant report

Variant	esv3367308
Chromosome Location	chr13:30645352-30648550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30597069..30597952-chr13:30646033..30646893,3	MCF-7	breast:
2	chr13:30597069..30598073-chr13:30646033..30647325,6	MCF-7	breast:
3	chr13:30594943..30595656-chr13:30646084..30646955,2	MCF-7	breast:
4	chr13:30597255..30598072-chr13:30646380..30647355,2	MCF-7	breast:
5	chr13:30644483..30648351-chr13:30648983..30651482,3	MCF-7	breast:
6	chr13:30637877..30640432-chr13:30643686..30645611,2	K562	blood:

Variant related genes	Relation type
ENSG00000266505	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530250662	chr13:30645367-30645368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549913254	chr13:30645379-30645380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116387235	chr13:30645390-30645391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11618928	chr13:30645408-30645409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552621801	chr13:30645419-30645420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116169494	chr13:30645431-30645432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534982834	chr13:30645439-30645440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554590335	chr13:30645457-30645458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568316652	chr13:30645466-30645467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113648655	chr13:30645467-30645468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186370844	chr13:30645490-30645491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370965580	chr13:30645527-30645528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577108199	chr13:30645548-30645549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545608457	chr13:30645557-30645558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372800183	chr13:30645577-30645578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111805795	chr13:30645591-30645592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190093047	chr13:30645671-30645672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111324490	chr13:30645682-30645683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561248013	chr13:30645818-30645819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140285287	chr13:30645835-30645836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528851807	chr13:30645843-30645844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149942736	chr13:30645908-30645909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544177162	chr13:30645922-30645923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563570602	chr13:30645956-30645957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17074302	chr13:30646022-30646023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146803077	chr13:30646024-30646025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533250124	chr13:30646044-30646045	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140615526	chr13:30646074-30646075	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528479946	chr13:30646116-30646117	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs145620212	chr13:30646120-30646121	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568454348	chr13:30646128-30646129	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs56756951	chr13:30646134-30646135	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557271345	chr13:30646135-30646136	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78119296	chr13:30646224-30646225	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539582285	chr13:30646238-30646239	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs74878095	chr13:30646241-30646242	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs17588874	chr13:30646297-30646298	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138235563	chr13:30646300-30646301	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554992561	chr13:30646343-30646344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574874424	chr13:30646350-30646351	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149147824	chr13:30646400-30646401	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs17504394	chr13:30646520-30646521	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs577389855	chr13:30646557-30646558	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546332502	chr13:30646594-30646595	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559603571	chr13:30646595-30646596	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143389579	chr13:30646616-30646617	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148389081	chr13:30646623-30646624	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562091504	chr13:30646639-30646640	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181590661	chr13:30646644-30646645	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141496690	chr13:30646649-30646650	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30639600-30645600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:30639600-30646200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr13:30643200-30647200	Enhancers	Pancreas	Pancrea
4	chr13:30643200-30648800	Enhancers	Stomach Mucosa	stomach
5	chr13:30643800-30651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:30644200-30645600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:30644200-30646200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:30645400-30647400	Enhancers	Placenta	Placenta
9	chr13:30645600-30645800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:30645600-30647200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:30645600-30647200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr13:30645600-30647400	Enhancers	Fetal Intestine Large	intestine
13	chr13:30645600-30647600	Enhancers	Fetal Intestine Small	intestine
14	chr13:30646000-30646200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr13:30646000-30647400	Enhancers	Duodenum Mucosa	Duodenum
16	chr13:30646200-30646400	Enhancers	Hela-S3	cervix
17	chr13:30646200-30646600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr13:30646200-30646600	Bivalent Enhancer	HepG2	liver
19	chr13:30646200-30646800	Enhancers	Brain Cingulate Gyrus	brain
20	chr13:30646200-30646800	Enhancers	Esophagus	oesophagus
21	chr13:30646200-30646800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr13:30646200-30647000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:30646200-30647000	Enhancers	Brain Hippocampus Middle	brain
24	chr13:30646200-30647000	Enhancers	Brain Substantia Nigra	brain
25	chr13:30646200-30647200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:30646200-30647200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:30646200-30647600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr13:30646400-30646600	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr13:30646400-30646600	Flanking Active TSS	Hela-S3	cervix
30	chr13:30646400-30646800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:30646400-30646800	Enhancers	Brain Anterior Caudate	brain
32	chr13:30646400-30646800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr13:30646400-30647000	Enhancers	Fetal Lung	lung
34	chr13:30646400-30647000	Enhancers	NHEK	skin
35	chr13:30646600-30646800	Enhancers	Hela-S3	cervix
36	chr13:30646600-30647000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:30646600-30647400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr13:30646800-30647000	Flanking Active TSS	Hela-S3	cervix
39	chr13:30647000-30647400	Enhancers	Hela-S3	cervix
40	chr13:30647000-30652000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:30647200-30647600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:30647800-30648200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:30648400-30649000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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