Variant report

Variant	esv3425828
Chromosome Location	chr15:79283497-79287695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:79276962..79279536-chr15:79281600..79283926,2	MCF-7	breast:
2	chr15:79283718..79286389-chr15:79307664..79309741,2	K562	blood:
3	chr15:79277578..79279918-chr15:79282302..79283905,2	K562	blood:
4	chr15:79202438..79205063-chr15:79282495..79284032,2	MCF-7	breast:
5	chr15:79286840..79288798-chr15:79290749..79294640,3	MCF-7	breast:
6	chr15:79284397..79285995-chr15:79309750..79311999,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000058335	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28565526	chr15:79283525-79283526	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73465325	chr15:79283544-79283545	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188752655	chr15:79283636-79283637	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371006767	chr15:79283698-79283699	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77799730	chr15:79283707-79283708	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs3217527	chr15:79283722-79283723	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149848596	chr15:79283750-79283751	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs202211865	chr15:79283821-79283822	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539535436	chr15:79283829-79283830	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs28567804	chr15:79283855-79283856	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573316746	chr15:79283871-79283872	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542425178	chr15:79283884-79283885	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548322955	chr15:79283905-79283906	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114427150	chr15:79283939-79283940	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs28587174	chr15:79283958-79283959	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs60761584	chr15:79283983-79283984	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs7170672	chr15:79284001-79284002	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563266714	chr15:79284007-79284008	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2304998	chr15:79284011-79284012	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551936312	chr15:79284035-79284036	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374092634	chr15:79284047-79284048	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377164583	chr15:79284048-79284049	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2304997	chr15:79284055-79284056	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs141077574	chr15:79284095-79284096	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375185257	chr15:79284102-79284103	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528237918	chr15:79284121-79284122	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28603308	chr15:79284127-79284128	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs147869279	chr15:79284128-79284129	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141524443	chr15:79284129-79284130	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147045546	chr15:79284130-79284131	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201344769	chr15:79284132-79284133	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145882041	chr15:79284157-79284158	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371311411	chr15:79284160-79284161	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148974934	chr15:79284181-79284182	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570508997	chr15:79284229-79284230	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539831044	chr15:79284243-79284244	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553158425	chr15:79284244-79284245	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566978949	chr15:79284251-79284252	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535604931	chr15:79284261-79284262	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555915274	chr15:79284324-79284325	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375809745	chr15:79284341-79284342	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575953162	chr15:79284346-79284347	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536249102	chr15:79284364-79284365	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7172300	chr15:79284379-79284380	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142933776	chr15:79284414-79284415	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576864701	chr15:79284422-79284423	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146442689	chr15:79284436-79284437	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559153618	chr15:79284468-79284469	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185428825	chr15:79284539-79284540	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28650400	chr15:79284542-79284543	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79244000-79288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:79272200-79284400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:79272400-79286400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:79276400-79288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:79276400-79309200	Weak transcription	Right Atrium	heart
6	chr15:79277600-79284000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:79278400-79290400	Enhancers	Fetal Intestine Small	intestine
8	chr15:79279400-79287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:79279600-79291000	Enhancers	Fetal Intestine Large	intestine
10	chr15:79279800-79285600	Enhancers	HepG2	liver
11	chr15:79280000-79283800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:79280000-79286800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:79280200-79285000	Enhancers	HSMM	muscle
14	chr15:79280200-79286000	Enhancers	HSMMtube	muscle
15	chr15:79280200-79286400	Enhancers	Placenta	Placenta
16	chr15:79280400-79284400	Weak transcription	Small Intestine	intestine
17	chr15:79280600-79284200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:79280600-79284200	Enhancers	Rectal Smooth Muscle	rectum
19	chr15:79280600-79284400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:79280800-79284600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:79280800-79285000	Weak transcription	Brain Anterior Caudate	brain
22	chr15:79280800-79285200	Weak transcription	Pancreas	Pancrea
23	chr15:79281000-79283600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:79281400-79283600	Enhancers	Fetal Stomach	stomach
25	chr15:79281400-79284800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:79281400-79286800	Weak transcription	Fetal Kidney	kidney
27	chr15:79281600-79285000	Weak transcription	HUVEC	blood vessel
28	chr15:79281600-79290200	Weak transcription	Brain Substantia Nigra	brain
29	chr15:79281800-79284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:79281800-79284000	Weak transcription	Lung	lung
31	chr15:79281800-79284400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr15:79281800-79284600	Weak transcription	GM12878-XiMat	blood
33	chr15:79281800-79285000	Weak transcription	Colonic Mucosa	Colon
34	chr15:79281800-79285400	Weak transcription	Fetal Lung	lung
35	chr15:79281800-79285400	Weak transcription	Gastric	stomach
36	chr15:79281800-79296000	Weak transcription	Primary B cells from cord blood	blood
37	chr15:79281800-79296600	Weak transcription	Esophagus	oesophagus
38	chr15:79281800-79296600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr15:79282000-79284200	Strong transcription	Brain Angular Gyrus	brain
40	chr15:79282200-79288200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr15:79282400-79283600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:79282400-79283600	Weak transcription	NHEK	skin
43	chr15:79282400-79285000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:79282400-79285000	Enhancers	Stomach Smooth Muscle	stomach
45	chr15:79282400-79289200	Weak transcription	HMEC	breast
46	chr15:79282600-79283600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:79282600-79283600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:79282600-79283800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr15:79282600-79286000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr15:79282600-79289000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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