Variant report

Variant	nsv1048374
Chromosome Location	chr15:54354984-54484623
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:54268767..54269686-chr15:54375127..54375711,4	MCF-7	breast:
2	chr15:54355045..54357590-chr15:54360185..54362187,2	K562	blood:
3	chr15:54375029..54375976-chr15:55400805..55401778,3	MCF-7	breast:
4	chr15:54355045..54357590-chr15:54360185..54362187,2	K562	blood:
5	chr15:54438739..54441656-chr17:57920173..57923142,2	MCF-7	breast:
6	chr15:54467594..54469950-chr8:103818486..103820863,2	MCF-7	breast:
7	chr15:54468684..54471121-chr15:54610190..54612096,2	K562	blood:
8	chr15:54374784..54375687-chr15:55460665..55461171,2	MCF-7	breast:
9	chr15:54367693..54370404-chr15:54374986..54376971,2	MCF-7	breast:
10	chr15:54254685..54255342-chr15:54375170..54375703,2	MCF-7	breast:
11	chr15:54367693..54370404-chr15:54374986..54376971,2	MCF-7	breast:
12	chr15:54254977..54255831-chr15:54374717..54376166,5	MCF-7	breast:
13	chr15:54374868..54376175-chr15:55400827..55401744,4	MCF-7	breast:
14	chr15:54428237..54428841-chr17:58520354..58521187,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259669	chromatin interactions
ENSG00000253669	chromatin interactions

Extended variants
information (count: 2218 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2218 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558651205	chr15:54354996-54354997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572175375	chr15:54355004-54355005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563719086	chr15:54355027-54355028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541076842	chr15:54355107-54355108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1897030	chr15:54355140-54355141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149499414	chr15:54355169-54355170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187059483	chr15:54355181-54355182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28393026	chr15:54355198-54355199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114950445	chr15:54355203-54355204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138586381	chr15:54355204-54355205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546384691	chr15:54355212-54355213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141571171	chr15:54355267-54355268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572349035	chr15:54355299-54355300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1897029	chr15:54355340-54355341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111766673	chr15:54355384-54355385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547170063	chr15:54355423-54355424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190607210	chr15:54355435-54355436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529640160	chr15:54355441-54355442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146177578	chr15:54355461-54355462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569589984	chr15:54355478-54355479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139030122	chr15:54355482-54355483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386784105	chr15:54355484-54355485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113592125	chr15:54355485-54355486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4641681	chr15:54355486-54355487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs28610474	chr15:54355494-54355495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141588881	chr15:54355506-54355507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574804281	chr15:54355507-54355508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543423252	chr15:54355511-54355512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532386109	chr15:54355529-54355530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150896154	chr15:54355545-54355546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577571648	chr15:54355555-54355556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546419560	chr15:54355643-54355644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535307174	chr15:54355667-54355668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560032385	chr15:54355687-54355688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528667617	chr15:54355689-54355690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202099943	chr15:54355710-54355711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547753988	chr15:54355711-54355712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541152262	chr15:54355745-54355746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560801283	chr15:54355763-54355764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529716832	chr15:54355790-54355791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28668733	chr15:54355907-54355908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12901954	chr15:54355939-54355940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532228766	chr15:54355964-54355965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139364915	chr15:54356013-54356014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565580478	chr15:54356039-54356040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534503953	chr15:54356051-54356052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1897028	chr15:54356060-54356061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs150024401	chr15:54356069-54356070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537463370	chr15:54356070-54356071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531225918	chr15:54356085-54356086	Weak 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
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
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54344600-54360600	Weak transcription	Fetal Lung	lung
2	chr15:54356600-54358000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:54357800-54358000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:54359800-54360000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:54360600-54360800	Enhancers	Fetal Lung	lung
6	chr15:54360800-54361200	Weak transcription	Fetal Lung	lung
7	chr15:54361200-54362800	Enhancers	Fetal Lung	lung
8	chr15:54361400-54362600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr15:54362200-54362800	Enhancers	Aorta	Aorta
10	chr15:54362200-54362800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr15:54362800-54365000	Weak transcription	Fetal Lung	lung
12	chr15:54365000-54365400	ZNF genes & repeats	Fetal Lung	lung
13	chr15:54374200-54374400	Enhancers	HepG2	liver
14	chr15:54375200-54376200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:54375400-54375600	Enhancers	Adipose Nuclei	Adipose
16	chr15:54375400-54376000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:54375400-54376000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:54375800-54376400	Enhancers	Fetal Muscle Leg	muscle
19	chr15:54376000-54376400	Enhancers	Fetal Muscle Trunk	muscle
20	chr15:54376000-54380000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:54376200-54380600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:54380000-54381000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr15:54380400-54381400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:54380600-54380800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr15:54380800-54381000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr15:54381000-54381200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr15:54381000-54382200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr15:54381200-54381400	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr15:54381400-54381600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr15:54381600-54382000	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr15:54382000-54382400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr15:54382200-54383200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr15:54394200-54395600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr15:54394800-54395400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr15:54399000-54399200	Enhancers	Aorta	Aorta
36	chr15:54399200-54402200	Weak transcription	Aorta	Aorta
37	chr15:54402200-54402400	Enhancers	Aorta	Aorta
38	chr15:54411200-54411800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr15:54411200-54412000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr15:54411800-54412200	Enhancers	Fetal Lung	lung
41	chr15:54411800-54412400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:54412200-54414600	Weak transcription	Fetal Lung	lung
43	chr15:54414600-54415000	Enhancers	Fetal Lung	lung
44	chr15:54423400-54423800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:54423800-54424200	Enhancers	NH-A	brain
46	chr15:54432200-54451200	Weak transcription	Fetal Lung	lung
47	chr15:54440200-54441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:54440600-54442000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr15:54440800-54442000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr15:54440800-54442400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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