Variant report

Variant	nsv569405
Chromosome Location	chr15:51791559-51890282
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:132)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:132 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr15:51850776..51853114-chr15:51857190..51858738,2	K562	blood:
2	chr15:51876863..51879432-chr15:51880781..51882627,2	MCF-7	breast:
3	chr15:51860984..51863229-chr15:51878270..51880253,2	MCF-7	breast:
4	chr15:51832420..51834620-chr15:51835685..51837806,2	K562	blood:
5	chr15:51867858..51870463-chr15:51910952..51912815,2	K562	blood:
6	chr15:51854337..51857092-chr15:51860809..51862898,2	K562	blood:
7	chr15:51870256..51872104-chr15:51873625..51875575,3	K562	blood:
8	chr15:51812082..51813725-chr15:51814759..51816922,2	K562	blood:
9	chr15:51877838..51880078-chr15:51913640..51915227,2	MCF-7	breast:
10	chr15:51790521..51793289-chr15:51842403..51845219,2	K562	blood:
11	chr15:51806249..51808093-chr15:51816177..51818172,2	MCF-7	breast:
12	chr15:51828678..51829913-chr15:51881158..51882720,13	MCF-7	breast:
13	chr15:51806249..51808093-chr15:51816177..51818172,2	MCF-7	breast:
14	chr15:51836777..51838394-chr15:51842554..51844470,2	MCF-7	breast:
15	chr15:51870572..51873309-chr15:51873394..51875007,2	MCF-7	breast:
16	chr15:51889282..51891197-chr15:51892580..51894608,3	K562	blood:
17	chr15:51716051..51718923-chr15:51836629..51839391,2	K562	blood:
18	chr15:51833348..51836933-chr15:51844447..51846431,3	MCF-7	breast:
19	chr15:51837957..51840448-chr15:51845565..51847843,2	K562	blood:
20	chr15:51790521..51793289-chr15:51842403..51845219,2	K562	blood:
21	chr15:51833348..51836933-chr15:51844447..51846431,3	MCF-7	breast:
22	chr15:51861248..51863140-chr15:51914368..51916557,2	MCF-7	breast:
23	chr15:51869314..51872893-chr15:51913496..51916376,3	MCF-7	breast:
24	chr15:51870572..51873309-chr15:51873394..51875007,2	MCF-7	breast:
25	chr15:51846158..51849118-chr15:51859655..51862008,2	MCF-7	breast:
26	chr15:51820517..51823414-chr15:51826309..51828768,2	K562	blood:
27	chr15:51826917..51829339-chr15:51866994..51868581,2	MCF-7	breast:
28	chr15:51843037..51845513-chr15:51854667..51856394,2	K562	blood:
29	chr15:51808318..51810633-chr15:51812373..51815352,2	K562	blood:
30	chr15:51828885..51829774-chr15:51881790..51882666,5	MCF-7	breast:
31	chr15:51869903..51873924-chr15:51913633..51916581,3	MCF-7	breast:
32	chr15:51693668..51696563-chr15:51791743..51794551,3	MCF-7	breast:
33	chr15:51833209..51835807-chr15:51913123..51917019,3	MCF-7	breast:
34	chr15:51694062..51694684-chr15:51881746..51882355,2	MCF-7	breast:
35	chr15:51793814..51797764-chr15:51797866..51800852,4	MCF-7	breast:
36	chr15:51860984..51863229-chr15:51878270..51880253,2	MCF-7	breast:
37	chr15:51828883..51829809-chr15:51853123..51854092,2	MCF-7	breast:
38	chr15:51830037..51835307-chr15:51835451..51839022,5	MCF-7	breast:
39	chr15:51867811..51869730-chr15:51913400..51915633,2	MCF-7	breast:
40	chr15:51835902..51838646-chr15:51851787..51853381,2	MCF-7	breast:
41	chr15:51837957..51840448-chr15:51845565..51847843,2	K562	blood:
42	chr15:51872226..51872785-chr8:61590656..61591256,2	NB4	blood:
43	chr15:51825826..51827487-chr7:85745785..85747305,2	MCF-7	breast:
44	chr15:51843037..51845513-chr15:51854667..51856394,2	K562	blood:
45	chr15:51787557..51789086-chr15:51791772..51793579,2	MCF-7	breast:
46	chr15:51866683..51869187-chr15:51892803..51894310,2	K562	blood:
47	chr15:51828366..51830744-chr15:51830911..51832606,2	MCF-7	breast:
48	chr15:51797075..51799588-chr15:51799701..51803630,3	MCF-7	breast:
49	chr15:51695107..51695963-chr15:51791260..51792237,6	MCF-7	breast:
50	chr15:51813148..51814978-chr15:51814982..51816797,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128872	chromatin interactions
ENSG00000104093	chromatin interactions

Extended variants
information (count: 3641 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3641 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12102203	chr15:51791559-51791560	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199599606	chr15:51791561-51791562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35167754	chr15:51791562-51791563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147622284	chr15:51791606-51791607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35600136	chr15:51791639-51791640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149083339	chr15:51791640-51791641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148325629	chr15:51791665-51791666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140476651	chr15:51791686-51791687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561679020	chr15:51791725-51791726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145645845	chr15:51791755-51791756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138187723	chr15:51791786-51791787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143088657	chr15:51791797-51791798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201138302	chr15:51791854-51791855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146147668	chr15:51791962-51791963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74839639	chr15:51792000-51792001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368031898	chr15:51792001-51792002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200461612	chr15:51792021-51792022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370563573	chr15:51792074-51792075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188824243	chr15:51792157-51792158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546549509	chr15:51792160-51792161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374283589	chr15:51792164-51792165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372188267	chr15:51792178-51792179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375475910	chr15:51792222-51792223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372438205	chr15:51792226-51792227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568116521	chr15:51792249-51792250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367615571	chr15:51792308-51792309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376728796	chr15:51792313-51792314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372199887	chr15:51792317-51792318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375142338	chr15:51792319-51792320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138911498	chr15:51792347-51792348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368879102	chr15:51792408-51792409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62014628	chr15:51792427-51792428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369944559	chr15:51792451-51792452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71472911	chr15:51792475-51792476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533708406	chr15:51792489-51792490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551093501	chr15:51792526-51792527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568940844	chr15:51792544-51792545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181194424	chr15:51792569-51792570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187162544	chr15:51792590-51792591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373110065	chr15:51792607-51792608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573136728	chr15:51792646-51792647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189951068	chr15:51792808-51792809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555402042	chr15:51792820-51792821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79285947	chr15:51792824-51792825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573721683	chr15:51792839-51792840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368529665	chr15:51792863-51792864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs8025536	chr15:51792875-51792876	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs8024353	chr15:51792886-51792887	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs367576385	chr15:51792900-51792901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577687414	chr15:51792903-51792904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51763600-51826800	Weak transcription	Colonic Mucosa	Colon
2	chr15:51776600-51800000	Weak transcription	Esophagus	oesophagus
3	chr15:51776800-51793800	Weak transcription	Fetal Stomach	stomach
4	chr15:51776800-51797200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:51776800-51801600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr15:51776800-51815600	Weak transcription	Aorta	Aorta
7	chr15:51776800-51837600	Weak transcription	Fetal Thymus	thymus
8	chr15:51776800-51855200	Weak transcription	Thymus	Thymus
9	chr15:51777600-51819000	Weak transcription	Small Intestine	intestine
10	chr15:51777800-51792200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:51777800-51795200	Weak transcription	Spleen	Spleen
12	chr15:51777800-51799600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:51778200-51811200	Weak transcription	NHDF-Ad	bronchial
14	chr15:51778400-51794400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:51778400-51825800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:51778600-51792200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:51778600-51798200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:51778600-51801400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:51778800-51813400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:51779200-51799000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:51780000-51798200	Weak transcription	Fetal Intestine Small	intestine
22	chr15:51780400-51817600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:51780400-51855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:51780800-51791800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:51780800-51799600	Weak transcription	GM12878-XiMat	blood
26	chr15:51780800-51839000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:51781200-51794600	Weak transcription	Placenta	Placenta
28	chr15:51781200-51796800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:51781200-51797600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:51781200-51816600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:51781400-51863000	Weak transcription	HSMM	muscle
32	chr15:51781600-51795800	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:51781600-51817400	Weak transcription	Brain Angular Gyrus	brain
34	chr15:51781600-51837000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:51784600-51797400	Weak transcription	Hela-S3	cervix
36	chr15:51785000-51827400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:51786400-51799000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:51787200-51818400	Weak transcription	Primary T cells from cord blood	blood
39	chr15:51787400-51794200	Weak transcription	NHLF	lung
40	chr15:51787400-51806600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:51787400-51807600	Weak transcription	Liver	Liver
42	chr15:51787400-51855400	Weak transcription	Osteobl	bone
43	chr15:51789000-51794800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:51789600-51792400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr15:51790000-51792200	Strong transcription	Fetal Intestine Large	intestine
46	chr15:51790200-51791800	Strong transcription	Lung	lung
47	chr15:51790200-51792000	Strong transcription	Fetal Brain Male	brain
48	chr15:51790200-51792200	Strong transcription	Left Ventricle	heart
49	chr15:51790200-51792400	Strong transcription	Adipose Nuclei	Adipose
50	chr15:51790200-51792400	Strong transcription	HSMMtube	muscle

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