Variant report

Variant	nsv1047100
Chromosome Location	chr15:56783225-56840744
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:22)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56811740..56813746-chr15:56822934..56825907,2	K562	blood:
2	chr15:56788702..56789394-chr15:57161523..57162414,2	MCF-7	breast:
3	chr15:56817798..56822286-chr15:56825097..56828742,4	K562	blood:
4	chr15:56782970..56783589-chr15:57598753..57599463,2	MCF-7	breast:
5	chr15:56788863..56789371-chr16:34759996..34760825,2	MCF-7	breast:
6	chr15:56814069..56816681-chr15:56818491..56820321,2	K562	blood:
7	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
8	chr15:56787707..56790107-chr15:57597582..57600140,2	MCF-7	breast:
9	chr15:56817798..56822839-chr15:56825097..56828742,5	K562	blood:
10	chr15:56788688..56789403-chr15:57430424..57431057,2	MCF-7	breast:
11	chr15:56817798..56822286-chr15:56825097..56828742,4	K562	blood:
12	chr15:56788753..56789362-chr15:57161247..57161954,2	K562	blood:
13	chr15:56817798..56822839-chr15:56825097..56828742,5	K562	blood:
14	chr15:56783040..56784156-chr15:57161563..57162645,6	K562	blood:
15	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
16	chr15:56811740..56813746-chr15:56822934..56825907,2	K562	blood:
17	chr15:56814069..56816681-chr15:56818491..56820321,2	K562	blood:
18	chr15:56788444..56789415-chr15:57598413..57599206,3	K562	blood:
19	chr15:56788456..56789162-chr15:57113822..57114589,2	MCF-7	breast:
20	chr15:56782685..56785505-chr15:57019755..57021681,2	K562	blood:
21	chr15:56788851..56789408-chr15:57103635..57104349,2	MCF-7	breast:
22	chr15:56775436..56776246-chr15:56784313..56784975,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF280D-1	chr15:56840058-56840205	ENSG00000260392.1
2	lnc-ZNF280D-1	chr15:56835757-56836010	ENSG00000260392.1
3	lnc-ZNF280D-1	chr15:56840645-56840799	ENSG00000260392.1
4	lnc-ZNF280D-1	chr15:56835150-56835294	ENSG00000260392.1
5	lnc-ZNF280D-1	chr15:56840136-56840205	ENSG00000260392.1

No data

Extended variants
information (count: 1655 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1655 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1629245	chr15:56783225-56783226	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74820514	chr15:56783251-56783252	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188906029	chr15:56783283-56783284	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371612822	chr15:56783287-56783288	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193065730	chr15:56783412-56783413	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185388308	chr15:56783430-56783431	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114978819	chr15:56783440-56783441	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529873923	chr15:56783455-56783456	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550095268	chr15:56783508-56783509	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189967848	chr15:56783509-56783510	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199729140	chr15:56783525-56783526	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72742686	chr15:56783550-56783551	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142402114	chr15:56783658-56783659	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557846450	chr15:56783690-56783691	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79946893	chr15:56783698-56783699	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565169292	chr15:56783722-56783723	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143940809	chr15:56783728-56783729	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372933119	chr15:56783738-56783739	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375395074	chr15:56783754-56783755	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369641712	chr15:56783768-56783769	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371863159	chr15:56783809-56783810	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62023913	chr15:56783819-56783820	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556854410	chr15:56783837-56783838	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199985293	chr15:56783846-56783847	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576643688	chr15:56783867-56783868	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191845147	chr15:56783884-56783885	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532855070	chr15:56783893-56783894	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564748075	chr15:56783948-56783949	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147762720	chr15:56784017-56784018	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs527245430	chr15:56784029-56784030	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs1617687	chr15:56784038-56784039	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183832638	chr15:56784045-56784046	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532873747	chr15:56784123-56784124	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1619156	chr15:56784161-56784162	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368289070	chr15:56784169-56784170	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551499098	chr15:56784175-56784176	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs34161200	chr15:56784198-56784199	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368987288	chr15:56784254-56784255	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188167380	chr15:56784262-56784263	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552415900	chr15:56784267-56784268	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566294366	chr15:56784309-56784310	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571319524	chr15:56784340-56784341	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1620205	chr15:56784345-56784346	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148647372	chr15:56784394-56784395	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567410525	chr15:56784476-56784477	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs141213136	chr15:56784480-56784481	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs77364219	chr15:56784506-56784507	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs576550434	chr15:56784507-56784508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538977791	chr15:56784518-56784519	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs150764741	chr15:56784520-56784521	Enhancers Weak transcription Flanking Active TSS	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:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56782800-56783400	Flanking Active TSS	Fetal Thymus	thymus
2	chr15:56782800-56784000	Enhancers	Dnd41	blood
3	chr15:56783200-56783400	Weak transcription	Thymus	Thymus
4	chr15:56783200-56786600	Weak transcription	Stomach Mucosa	stomach
5	chr15:56783400-56783800	Enhancers	Brain Hippocampus Middle	brain
6	chr15:56783400-56783800	Active TSS	Fetal Thymus	thymus
7	chr15:56783400-56783800	Active TSS	Thymus	Thymus
8	chr15:56783800-56785400	Flanking Active TSS	Thymus	Thymus
9	chr15:56783800-56785600	Flanking Active TSS	Fetal Thymus	thymus
10	chr15:56783800-56789000	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:56784000-56784200	Flanking Active TSS	Dnd41	blood
12	chr15:56784200-56784600	Enhancers	Dnd41	blood
13	chr15:56784400-56785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:56784400-56785800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr15:56784600-56785000	Enhancers	Fetal Muscle Leg	muscle
16	chr15:56784600-56785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:56784600-56786200	Flanking Active TSS	Dnd41	blood
18	chr15:56785200-56785400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr15:56785400-56789000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:56785400-56789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:56785400-56789200	Enhancers	Thymus	Thymus
22	chr15:56785600-56786200	Genic enhancers	Fetal Thymus	thymus
23	chr15:56786200-56787800	Enhancers	Dnd41	blood
24	chr15:56786200-56789400	Enhancers	Fetal Thymus	thymus
25	chr15:56786600-56787000	Enhancers	Colonic Mucosa	Colon
26	chr15:56786600-56788000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr15:56786600-56788000	Enhancers	Stomach Mucosa	stomach
28	chr15:56786600-56788400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr15:56787000-56788200	Enhancers	Fetal Intestine Small	intestine
30	chr15:56787400-56787800	Enhancers	Duodenum Mucosa	Duodenum
31	chr15:56787400-56788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:56787400-56788200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr15:56787800-56788800	Weak transcription	Dnd41	blood
34	chr15:56787800-56789000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:56788000-56788200	Enhancers	Fetal Intestine Large	intestine
36	chr15:56788000-56788800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr15:56788000-56789000	Weak transcription	Stomach Mucosa	stomach
38	chr15:56788200-56788800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr15:56788200-56789000	Weak transcription	Fetal Intestine Large	intestine
40	chr15:56788200-56789200	Weak transcription	Fetal Intestine Small	intestine
41	chr15:56788400-56788800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:56788800-56789000	Enhancers	Brain Angular Gyrus	brain
43	chr15:56788800-56789000	Active TSS	Brain Anterior Caudate	brain
44	chr15:56788800-56789000	Active TSS	Stomach Smooth Muscle	stomach
45	chr15:56788800-56789200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr15:56788800-56789200	Active TSS	Brain Substantia Nigra	brain
47	chr15:56788800-56789200	Active TSS	Colon Smooth Muscle	Colon
48	chr15:56788800-56789200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr15:56788800-56789400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr15:56788800-56789400	Enhancers	Rectal Mucosa Donor 31	rectum

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