Variant report

Variant	nsv524912
Chromosome Location	chr15:57950634-57953564
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	chr15:57950789..57953670-chr15:58038334..58040574,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2554041	chr15:57950634-57950635	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569044405	chr15:57950653-57950654	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536579510	chr15:57950675-57950676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140084130	chr15:57950690-57950691	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60234362	chr15:57950698-57950699	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577520898	chr15:57950728-57950729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534832113	chr15:57950748-57950749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539852256	chr15:57950754-57950755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553442157	chr15:57950785-57950786	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573449631	chr15:57950825-57950826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541998025	chr15:57950842-57950843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561979621	chr15:57950852-57950853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531026617	chr15:57950865-57950866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149917847	chr15:57950886-57950887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564627135	chr15:57950932-57950933	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79126530	chr15:57950936-57950937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185864195	chr15:57950937-57950938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2433205	chr15:57950958-57950959	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs555064803	chr15:57950971-57950972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141048960	chr15:57951064-57951065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531893313	chr15:57951070-57951071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574991521	chr15:57951083-57951084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11856824	chr15:57951195-57951196	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs537648790	chr15:57951229-57951230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144742915	chr15:57951248-57951249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571493033	chr15:57951260-57951261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371067134	chr15:57951323-57951324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556612586	chr15:57951358-57951359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553380579	chr15:57951365-57951366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563693884	chr15:57951373-57951374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200953313	chr15:57951435-57951436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535909074	chr15:57951436-57951437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556006610	chr15:57951493-57951494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575745997	chr15:57951508-57951509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2733600	chr15:57951539-57951540	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564789871	chr15:57951546-57951547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578261032	chr15:57951570-57951571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545197283	chr15:57951591-57951592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138759358	chr15:57951614-57951615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2554040	chr15:57951748-57951749	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs529329638	chr15:57951765-57951766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549453780	chr15:57951777-57951778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192494916	chr15:57951806-57951807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562853041	chr15:57951816-57951817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183820250	chr15:57951848-57951849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551333433	chr15:57951869-57951870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571496822	chr15:57951871-57951872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80176928	chr15:57951886-57951887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140371575	chr15:57951890-57951891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528628611	chr15:57951892-57951893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	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
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57919400-57959400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:57932200-57967400	Weak transcription	Aorta	Aorta
3	chr15:57933400-57982600	Weak transcription	Esophagus	oesophagus
4	chr15:57936600-57954000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:57940200-57955000	Weak transcription	Gastric	stomach
6	chr15:57940800-57955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr15:57941600-57954600	Weak transcription	Pancreas	Pancrea
8	chr15:57941600-57955000	Weak transcription	Psoas Muscle	Psoas
9	chr15:57947000-57952800	Weak transcription	Small Intestine	intestine
10	chr15:57947000-57954000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:57947400-57953800	Weak transcription	Stomach Mucosa	stomach
12	chr15:57947400-57959200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:57947800-57954400	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:57948400-57953200	Weak transcription	Left Ventricle	heart
15	chr15:57948400-57953800	Weak transcription	Fetal Intestine Large	intestine
16	chr15:57948400-57953800	Weak transcription	Fetal Intestine Small	intestine
17	chr15:57948600-57954800	Strong transcription	Adipose Nuclei	Adipose
18	chr15:57949200-57967400	Weak transcription	Right Ventricle	heart
19	chr15:57949400-57953200	Weak transcription	Fetal Kidney	kidney
20	chr15:57950200-57953200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:57950400-57951000	Enhancers	Fetal Heart	heart
22	chr15:57951000-57952000	Weak transcription	Fetal Heart	heart
23	chr15:57952000-57952600	Genic enhancers	Fetal Heart	heart
24	chr15:57952600-57953800	Weak transcription	Fetal Heart	heart
25	chr15:57952800-57953000	Enhancers	Small Intestine	intestine
26	chr15:57953000-57953400	Weak transcription	Small Intestine	intestine
27	chr15:57953200-57954800	Enhancers	Fetal Kidney	kidney
28	chr15:57953200-57955000	Strong transcription	Left Ventricle	heart
29	chr15:57953200-57956000	Enhancers	Duodenum Mucosa	Duodenum
30	chr15:57953400-57953600	Enhancers	Small Intestine	intestine
31	chr15:57953400-57955600	Enhancers	Fetal Lung	lung

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