Variant report

Variant	nsv1043666
Chromosome Location	chr15:54415970-54548495
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:54438739..54441656-chr17:57920173..57923142,2	MCF-7	breast:
2	chr15:54539853..54542603-chr15:54543505..54545190,2	MCF-7	breast:
3	chr15:54520149..54522088-chr15:54523753..54525995,2	MCF-7	breast:
4	chr15:54520149..54522088-chr15:54523753..54525995,2	MCF-7	breast:
5	chr15:54540510..54543369-chr15:54545272..54547110,2	K562	blood:
6	chr15:54467594..54469950-chr8:103818486..103820863,2	MCF-7	breast:
7	chr11:67937367..67938965-chr15:54485479..54488109,2	MCF-7	breast:
8	chr15:54539853..54542603-chr15:54543505..54545190,2	MCF-7	breast:
9	chr15:54428237..54428841-chr17:58520354..58521187,2	MCF-7	breast:
10	chr15:54468684..54471121-chr15:54610190..54612096,2	K562	blood:
11	chr15:54540510..54543369-chr15:54545272..54547110,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253669	chromatin interactions

Extended variants
information (count: 3401 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:3401 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139943337	chr15:54423400-54423401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529778818	chr15:54423422-54423423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142161289	chr15:54423423-54423424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569696924	chr15:54423467-54423468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182697544	chr15:54423494-54423495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376418774	chr15:54423515-54423516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4774679	chr15:54423532-54423533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs4776210	chr15:54423552-54423553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150754313	chr15:54423553-54423554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542333523	chr15:54423561-54423562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4774680	chr15:54423564-54423565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574279715	chr15:54423568-54423569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139081451	chr15:54423575-54423576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575835045	chr15:54423586-54423587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546064166	chr15:54423592-54423593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576867776	chr15:54423610-54423611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545839322	chr15:54423617-54423618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4774681	chr15:54423703-54423704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs77828030	chr15:54423741-54423742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186046148	chr15:54423757-54423758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190812142	chr15:54423800-54423801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78173596	chr15:54423805-54423806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549947109	chr15:54423820-54423821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183866400	chr15:54423830-54423831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7170578	chr15:54423831-54423832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7170148	chr15:54423863-54423864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs551838670	chr15:54423890-54423891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565982443	chr15:54423904-54423905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534647819	chr15:54423919-54423920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149897697	chr15:54423963-54423964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16974124	chr15:54423972-54423973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs536839505	chr15:54424000-54424001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557046046	chr15:54424019-54424020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16974125	chr15:54424061-54424062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs73405605	chr15:54424111-54424112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140257002	chr15:54424115-54424116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553056442	chr15:54424129-54424130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145667337	chr15:54424152-54424153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533183094	chr15:54424156-54424157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551310706	chr15:54424191-54424192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571803666	chr15:54432208-54432209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370247057	chr15:54432213-54432214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564906273	chr15:54432215-54432216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576547062	chr15:54432246-54432247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184598144	chr15:54432290-54432291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187816476	chr15:54432314-54432315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547553782	chr15:54432388-54432389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12594204	chr15:54432421-54432422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs4550400	chr15:54432447-54432448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs193284994	chr15:54432453-54432454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Melanoma	20877625	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54423400-54423800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:54423800-54424200	Enhancers	NH-A	brain
3	chr15:54432200-54451200	Weak transcription	Fetal Lung	lung
4	chr15:54440200-54441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:54440600-54442000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr15:54440800-54442000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:54440800-54442400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:54440800-54443800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:54441000-54441600	Enhancers	HUVEC	blood vessel
10	chr15:54441000-54443200	Enhancers	NH-A	brain
11	chr15:54441200-54441400	Enhancers	Aorta	Aorta
12	chr15:54441200-54443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:54441400-54442600	Weak transcription	Aorta	Aorta
14	chr15:54441600-54442000	Weak transcription	HUVEC	blood vessel
15	chr15:54441800-54453200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:54442000-54442400	Enhancers	HUVEC	blood vessel
17	chr15:54442000-54442600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr15:54442000-54442800	Enhancers	Primary hematopoietic stem cells	blood
19	chr15:54442000-54442800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:54442000-54443800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:54442400-54442800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr15:54442400-54442800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:54442600-54442800	Enhancers	Aorta	Aorta
24	chr15:54442600-54443000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr15:54442800-54443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:54442800-54443000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:54450600-54451200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:54450600-54452600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:54451200-54452000	Enhancers	Fetal Lung	lung
30	chr15:54467600-54468600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:54468000-54468800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:54479400-54479800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:54487200-54488000	Enhancers	Colon Smooth Muscle	Colon
34	chr15:54489400-54492400	Weak transcription	Fetal Lung	lung
35	chr15:54490000-54490200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:54490000-54490400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr15:54490000-54490800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr15:54490200-54490600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr15:54490200-54490600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:54490200-54490800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:54490200-54490800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:54490200-54490800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:54490400-54490800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr15:54501200-54501800	ZNF genes & repeats	Aorta	Aorta
45	chr15:54501200-54510600	Weak transcription	Fetal Lung	lung
46	chr15:54501800-54506800	Weak transcription	Aorta	Aorta
47	chr15:54502800-54503000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr15:54503000-54503800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr15:54503000-54505200	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr15:54503800-54504000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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