Variant report

Variant	esv3358231
Chromosome Location	chr15:78175897-78180095
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	chr15:78170552..78173513-chr15:78177098..78179231,2	K562	blood:

Extended variants
information (count: 256 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538768384	chr15:78175910-78175911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554194645	chr15:78175911-78175912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373878985	chr15:78175927-78175928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536435647	chr15:78175942-78175943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546286962	chr15:78175944-78175945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74029439	chr15:78175976-78175977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138190823	chr15:78175983-78175984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12898959	chr15:78176026-78176027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543710076	chr15:78176035-78176036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558601675	chr15:78176126-78176127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576866843	chr15:78176131-78176132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs60911852	chr15:78176186-78176187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58628094	chr15:78176187-78176188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182461424	chr15:78176206-78176207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543184929	chr15:78176211-78176212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548341604	chr15:78176220-78176221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531898786	chr15:78176223-78176224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550023151	chr15:78176231-78176232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74029440	chr15:78176234-78176235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532536258	chr15:78176254-78176255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547618483	chr15:78176255-78176256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139308964	chr15:78176256-78176257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566148006	chr15:78176273-78176274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536083815	chr15:78176292-78176293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548424098	chr15:78176306-78176307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569829473	chr15:78176340-78176341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537352654	chr15:78176356-78176357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558842659	chr15:78176363-78176364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531041221	chr15:78176368-78176369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79765058	chr15:78176385-78176386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570898936	chr15:78176405-78176406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112590731	chr15:78176406-78176407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539781525	chr15:78176424-78176425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113317099	chr15:78176441-78176442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540072505	chr15:78176491-78176492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566723290	chr15:78176512-78176513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574497824	chr15:78176519-78176520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541526143	chr15:78176527-78176528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561157893	chr15:78176532-78176533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576184746	chr15:78176551-78176552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186781234	chr15:78176575-78176576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368515092	chr15:78176626-78176627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191157044	chr15:78176651-78176652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532433007	chr15:78176653-78176654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547746744	chr15:78176680-78176681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559457887	chr15:78176694-78176695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372607655	chr15:78176705-78176706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377088852	chr15:78176711-78176712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143780155	chr15:78176723-78176724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184788836	chr15:78176786-78176787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78163200-78177400	Weak transcription	Esophagus	oesophagus
2	chr15:78164600-78177200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:78164800-78177400	Weak transcription	Right Atrium	heart
4	chr15:78167600-78178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:78168200-78177400	Weak transcription	Right Ventricle	heart
6	chr15:78171800-78177200	Weak transcription	Hela-S3	cervix
7	chr15:78171800-78181400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:78172200-78176800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:78172200-78179800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:78173200-78185600	Enhancers	Fetal Muscle Trunk	muscle
11	chr15:78173800-78186000	Enhancers	Fetal Muscle Leg	muscle
12	chr15:78174400-78177200	Weak transcription	Spleen	Spleen
13	chr15:78175000-78176800	Weak transcription	Adipose Nuclei	Adipose
14	chr15:78175000-78177000	Weak transcription	Fetal Stomach	stomach
15	chr15:78175000-78177200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:78175000-78177200	Weak transcription	Fetal Kidney	kidney
17	chr15:78175000-78177200	Weak transcription	Placenta	Placenta
18	chr15:78175000-78177200	Weak transcription	HSMMtube	muscle
19	chr15:78175200-78177000	Weak transcription	Fetal Lung	lung
20	chr15:78175200-78177600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:78175200-78178000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:78176200-78176400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:78176200-78176400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:78176400-78177000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:78176400-78181400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:78176800-78177000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:78176800-78177200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:78176800-78178200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr15:78176800-78178200	Enhancers	Adipose Nuclei	Adipose
30	chr15:78177000-78177200	Enhancers	Fetal Lung	lung
31	chr15:78177000-78177400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:78177000-78177800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:78177000-78178200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:78177000-78178400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr15:78177000-78178600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:78177000-78178800	Enhancers	Fetal Stomach	stomach
37	chr15:78177200-78177400	Flanking Active TSS	Fetal Lung	lung
38	chr15:78177200-78177600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:78177200-78177600	Enhancers	Placenta	Placenta
40	chr15:78177200-78177800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:78177200-78177800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:78177200-78177800	Active TSS	Fetal Brain Male	brain
43	chr15:78177200-78177800	Enhancers	Fetal Kidney	kidney
44	chr15:78177200-78178000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr15:78177200-78178000	Enhancers	Spleen	Spleen
46	chr15:78177200-78178000	Enhancers	GM12878-XiMat	blood
47	chr15:78177200-78178200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:78177200-78178200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr15:78177200-78178200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:78177200-78178200	Enhancers	Osteobl	bone

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