Variant report

Variant	nsv977187
Chromosome Location	chr13:111192304-111193719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111190119..111192322-chr13:111194362..111196366,2	MCF-7	breast:
2	chr13:111192777..111195379-chr13:111196356..111198456,2	MCF-7	breast:
3	chr13:111189757..111192699-chr13:111197488..111200352,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114844285	chr13:111192326-111192327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553978798	chr13:111192335-111192336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147672427	chr13:111192336-111192337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527854574	chr13:111192353-111192354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140662733	chr13:111192363-111192364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181641740	chr13:111192364-111192365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560099230	chr13:111192420-111192421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377380	chr13:111192421-111192422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs550540184	chr13:111192440-111192441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568804373	chr13:111192465-111192466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376608486	chr13:111192467-111192468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554398336	chr13:111192498-111192499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs378394	chr13:111192507-111192508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116430538	chr13:111192536-111192537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144729451	chr13:111192546-111192547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576718335	chr13:111192550-111192551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544149918	chr13:111192581-111192582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561935014	chr13:111192602-111192603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562880602	chr13:111192605-111192606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574775507	chr13:111192622-111192623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184610685	chr13:111192788-111192789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147903077	chr13:111192810-111192811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34439663	chr13:111192947-111192948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35169405	chr13:111192962-111192963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567332012	chr13:111193020-111193021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527485390	chr13:111193039-111193040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141782908	chr13:111193044-111193045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541178748	chr13:111193045-111193046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537300291	chr13:111193071-111193072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575598403	chr13:111193089-111193090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57711956	chr13:111193090-111193091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79174807	chr13:111193091-111193092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190466948	chr13:111193132-111193133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77815571	chr13:111193144-111193145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11318888	chr13:111193145-111193146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151081496	chr13:111193166-111193167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141110078	chr13:111193178-111193179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568818096	chr13:111193202-111193203	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535836348	chr13:111193222-111193223	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549586176	chr13:111193232-111193233	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548187961	chr13:111193252-111193253	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76216780	chr13:111193351-111193352	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs180720815	chr13:111193357-111193358	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs569343462	chr13:111193364-111193365	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs150259102	chr13:111193419-111193420	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs2477912	chr13:111193470-111193471	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs538128626	chr13:111193478-111193479	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs138532741	chr13:111193505-111193506	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376501787	chr13:111193546-111193547	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs9521825	chr13:111193558-111193559	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:91)

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
Cancer	20164919	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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111160800-111209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:111182200-111193400	Weak transcription	Aorta	Aorta
3	chr13:111182400-111193800	Weak transcription	HepG2	liver
4	chr13:111182400-111203600	Weak transcription	Brain Substantia Nigra	brain
5	chr13:111184000-111193200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:111184000-111199600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:111184000-111211800	Weak transcription	HMEC	breast
8	chr13:111184200-111193200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr13:111184200-111196400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:111184200-111197000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:111184600-111209800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:111185800-111193600	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:111186400-111193200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:111186600-111192400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:111188200-111192600	Enhancers	GM12878-XiMat	blood
16	chr13:111188200-111193200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:111188200-111194000	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:111188400-111196400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:111188400-111203600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:111188600-111193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:111188800-111193200	Weak transcription	Right Atrium	heart
22	chr13:111188800-111193400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr13:111189000-111193200	Weak transcription	Fetal Stomach	stomach
24	chr13:111189000-111193200	Weak transcription	Right Ventricle	heart
25	chr13:111189000-111193800	Weak transcription	Fetal Intestine Large	intestine
26	chr13:111189000-111198600	Weak transcription	NHLF	lung
27	chr13:111189000-111198800	Weak transcription	Small Intestine	intestine
28	chr13:111189000-111201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:111190000-111193800	Weak transcription	K562	blood
30	chr13:111190200-111193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:111190400-111193200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr13:111190400-111193200	Weak transcription	Fetal Intestine Small	intestine
33	chr13:111190400-111199400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:111191200-111193200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:111191200-111193200	Weak transcription	Liver	Liver
36	chr13:111191200-111193200	Weak transcription	Gastric	stomach
37	chr13:111191200-111193200	Weak transcription	Left Ventricle	heart
38	chr13:111191200-111193400	Weak transcription	Spleen	Spleen
39	chr13:111191200-111213000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr13:111191400-111192400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr13:111191400-111192400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:111191400-111193200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:111191400-111193200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr13:111191400-111193200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:111191400-111193200	Weak transcription	Placenta	Placenta
46	chr13:111191400-111193200	Weak transcription	Ovary	ovary
47	chr13:111191400-111193200	Weak transcription	Pancreas	Pancrea
48	chr13:111191400-111193400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:111191400-111193400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:111191400-111193400	Weak transcription	Fetal Lung	lung

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