Variant report

Variant	nsv525850
Chromosome Location	chr15:60827430-60833019
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:60831865..60833661-chr15:60835161..60837068,2	MCF-7	breast:
2	chr15:60826322..60829017-chr15:60829642..60832033,2	MCF-7	breast:
3	chr15:60826322..60829017-chr15:60829642..60832033,2	MCF-7	breast:
4	chr15:60817009..60819073-chr15:60825895..60828654,2	MCF-7	breast:
5	chr15:60829721..60832392-chr15:60832780..60835577,2	K562	blood:
6	chr15:60830003..60832382-chr15:60837571..60839170,2	K562	blood:
7	chr15:60829721..60832392-chr15:60832780..60835577,2	K562	blood:
8	chr15:60829900..60831611-chr15:61102871..61104667,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NARG2-2	chr15:60831950-60833416	NONHSAT044226
2	lnc-NARG2-2	chr15:60831922-60831931	NONHSAT044226

No data

Extended variants
information (count: 184 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs4594196	chr15:60827430-60827431	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185061219	chr15:60827448-60827449	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs551799232	chr15:60827451-60827452	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs570029365	chr15:60827514-60827515	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs16942723	chr15:60827523-60827524	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79166023	chr15:60827532-60827533	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs115692395	chr15:60827543-60827544	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs75618170	chr15:60827589-60827590	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs192393979	chr15:60827622-60827623	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs367806480	chr15:60827671-60827672	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs539038973	chr15:60827826-60827827	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557766305	chr15:60827894-60827895	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28521117	chr15:60827903-60827904	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28562395	chr15:60827904-60827905	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62003286	chr15:60827921-60827922	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs376958742	chr15:60827938-60827939	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543475463	chr15:60827961-60827962	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561630847	chr15:60827994-60827995	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542714000	chr15:60828021-60828022	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72748719	chr15:60828051-60828052	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574244299	chr15:60828089-60828090	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541686367	chr15:60828092-60828093	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117930259	chr15:60828103-60828104	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183797995	chr15:60828147-60828148	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60014588	chr15:60828149-60828150	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538881869	chr15:60828167-60828168	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561908246	chr15:60828181-60828182	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76728737	chr15:60828204-60828205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78852743	chr15:60828224-60828225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372021404	chr15:60828324-60828325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16942725	chr15:60828344-60828345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188474566	chr15:60828369-60828370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180832036	chr15:60828395-60828396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565619464	chr15:60828435-60828436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75562534	chr15:60828438-60828439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78793138	chr15:60828461-60828462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557787091	chr15:60828482-60828483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558842803	chr15:60828510-60828511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186701208	chr15:60828656-60828657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565223514	chr15:60828712-60828713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2899660	chr15:60828736-60828737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189475473	chr15:60828774-60828775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76034914	chr15:60828782-60828783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182055106	chr15:60828805-60828806	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143753822	chr15:60828843-60828844	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578122090	chr15:60828858-60828859	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545656842	chr15:60828867-60828868	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147639096	chr15:60828925-60828926	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368145169	chr15:60828932-60828933	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563832106	chr15:60828979-60828980	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	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
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:60772800-60846800	Weak transcription	Primary B cells from cord blood	blood
2	chr15:60794800-60830400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:60804200-60828200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:60804200-60850200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:60804800-60837400	Weak transcription	Fetal Intestine Small	intestine
6	chr15:60806800-60834400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr15:60806800-60834600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:60806800-60849600	Weak transcription	Aorta	Aorta
9	chr15:60807000-60834200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr15:60812400-60834600	Weak transcription	Gastric	stomach
11	chr15:60813000-60829600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:60813000-60830400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr15:60813000-60830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:60816000-60834400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:60818600-60833400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr15:60818600-60834400	Weak transcription	Spleen	Spleen
17	chr15:60818600-60834600	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:60818800-60829400	Weak transcription	Esophagus	oesophagus
19	chr15:60818800-60829600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:60818800-60834400	Weak transcription	Fetal Kidney	kidney
21	chr15:60820000-60833600	Weak transcription	Fetal Brain Female	brain
22	chr15:60820200-60828200	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:60820200-60829400	Weak transcription	Pancreas	Pancrea
24	chr15:60820200-60829400	Weak transcription	Right Atrium	heart
25	chr15:60820400-60829600	Weak transcription	Fetal Thymus	thymus
26	chr15:60821000-60828200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:60821200-60827600	Weak transcription	Small Intestine	intestine
28	chr15:60821200-60832600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:60821200-60833600	Weak transcription	Right Ventricle	heart
30	chr15:60821200-60834000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:60821400-60833800	Weak transcription	Fetal Heart	heart
32	chr15:60822400-60834400	Weak transcription	Lung	lung
33	chr15:60822400-60842400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:60822600-60834600	Weak transcription	Ovary	ovary
35	chr15:60823000-60830200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:60823200-60828200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:60823600-60844200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:60823600-60844600	Weak transcription	HepG2	liver
39	chr15:60823800-60828200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:60823800-60829800	Weak transcription	Primary T cells from cord blood	blood
41	chr15:60824200-60834000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr15:60824200-60834200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:60824200-60838000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:60824400-60829600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr15:60824600-60834000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr15:60824600-60838200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr15:60824600-60845600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr15:60824800-60829000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr15:60825000-60827600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:60825000-60827800	Enhancers	Liver	Liver

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