Variant report

Variant	nsv569549
Chromosome Location	chr15:56785094-56793722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56788863..56789371-chr16:34759996..34760825,2	MCF-7	breast:
2	chr15:56788753..56789362-chr15:57161247..57161954,2	K562	blood:
3	chr15:56788702..56789394-chr15:57161523..57162414,2	MCF-7	breast:
4	chr15:56788851..56789408-chr15:57103635..57104349,2	MCF-7	breast:
5	chr15:56782685..56785505-chr15:57019755..57021681,2	K562	blood:
6	chr15:56788444..56789415-chr15:57598413..57599206,3	K562	blood:
7	chr15:56788688..56789403-chr15:57430424..57431057,2	MCF-7	breast:
8	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
9	chr15:56788456..56789162-chr15:57113822..57114589,2	MCF-7	breast:
10	chr15:56787707..56790107-chr15:57597582..57600140,2	MCF-7	breast:

No data

Extended variants
information (count: 343 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3848114	chr15:56785094-56785095	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559339163	chr15:56785152-56785153	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs572760600	chr15:56785153-56785154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs75045482	chr15:56785184-56785185	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182097289	chr15:56785207-56785208	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62023914	chr15:56785236-56785237	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149778797	chr15:56785241-56785242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563347166	chr15:56785263-56785264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577007995	chr15:56785275-56785276	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs545580581	chr15:56785285-56785286	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201104683	chr15:56785309-56785310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187146136	chr15:56785315-56785316	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs367831523	chr15:56785377-56785378	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs372635235	chr15:56785378-56785379	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548054263	chr15:56785385-56785386	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111318313	chr15:56785422-56785423	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147243702	chr15:56785486-56785487	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533790229	chr15:56785498-56785499	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530064829	chr15:56785543-56785544	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs190486356	chr15:56785544-56785545	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs145752505	chr15:56785568-56785569	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532630991	chr15:56785577-56785578	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182697975	chr15:56785580-56785581	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs377243293	chr15:56785608-56785609	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148946532	chr15:56785617-56785618	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs370161679	chr15:56785697-56785698	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185605673	chr15:56785763-56785764	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189898055	chr15:56785794-56785795	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs567965517	chr15:56785796-56785797	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs537045412	chr15:56785806-56785807	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs374595232	chr15:56785815-56785816	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs556816782	chr15:56785830-56785831	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576860007	chr15:56785831-56785832	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs78861404	chr15:56785902-56785903	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552773189	chr15:56785904-56785905	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182976792	chr15:56785918-56785919	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541732536	chr15:56785936-56785937	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs561971399	chr15:56785952-56785953	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76991756	chr15:56785979-56785980	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs115329982	chr15:56786018-56786019	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs556610540	chr15:56786022-56786023	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs114078788	chr15:56786086-56786087	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs114594194	chr15:56786092-56786093	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs187523451	chr15:56786132-56786133	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs566284943	chr15:56786135-56786136	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs141355411	chr15:56786171-56786172	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548943887	chr15:56786190-56786191	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568724630	chr15:56786195-56786196	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145157735	chr15:56786250-56786251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139031010	chr15:56786282-56786283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56783200-56786600	Weak transcription	Stomach Mucosa	stomach
2	chr15:56783800-56785400	Flanking Active TSS	Thymus	Thymus
3	chr15:56783800-56785600	Flanking Active TSS	Fetal Thymus	thymus
4	chr15:56783800-56789000	Weak transcription	Brain Hippocampus Middle	brain
5	chr15:56784400-56785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:56784400-56785800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:56784600-56785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:56784600-56786200	Flanking Active TSS	Dnd41	blood
9	chr15:56785200-56785400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr15:56785400-56789000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:56785400-56789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:56785400-56789200	Enhancers	Thymus	Thymus
13	chr15:56785600-56786200	Genic enhancers	Fetal Thymus	thymus
14	chr15:56786200-56787800	Enhancers	Dnd41	blood
15	chr15:56786200-56789400	Enhancers	Fetal Thymus	thymus
16	chr15:56786600-56787000	Enhancers	Colonic Mucosa	Colon
17	chr15:56786600-56788000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr15:56786600-56788000	Enhancers	Stomach Mucosa	stomach
19	chr15:56786600-56788400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:56787000-56788200	Enhancers	Fetal Intestine Small	intestine
21	chr15:56787400-56787800	Enhancers	Duodenum Mucosa	Duodenum
22	chr15:56787400-56788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:56787400-56788200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr15:56787800-56788800	Weak transcription	Dnd41	blood
25	chr15:56787800-56789000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:56788000-56788200	Enhancers	Fetal Intestine Large	intestine
27	chr15:56788000-56788800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr15:56788000-56789000	Weak transcription	Stomach Mucosa	stomach
29	chr15:56788200-56788800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:56788200-56789000	Weak transcription	Fetal Intestine Large	intestine
31	chr15:56788200-56789200	Weak transcription	Fetal Intestine Small	intestine
32	chr15:56788400-56788800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr15:56788800-56789000	Enhancers	Brain Angular Gyrus	brain
34	chr15:56788800-56789000	Active TSS	Brain Anterior Caudate	brain
35	chr15:56788800-56789000	Active TSS	Stomach Smooth Muscle	stomach
36	chr15:56788800-56789200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr15:56788800-56789200	Active TSS	Brain Substantia Nigra	brain
38	chr15:56788800-56789200	Active TSS	Colon Smooth Muscle	Colon
39	chr15:56788800-56789200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr15:56788800-56789400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr15:56788800-56789400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr15:56788800-56790800	Enhancers	Dnd41	blood
43	chr15:56789000-56789200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:56789000-56789200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:56789000-56789200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:56789000-56789200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr15:56789000-56789200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
48	chr15:56789000-56789200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:56789000-56789200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:56789000-56789200	Enhancers	Brain Hippocampus Middle	brain

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