Variant report

Variant	nsv527754
Chromosome Location	chr15:59848471-59855226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:59848873-59849041	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr15:59849265-59849444	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr15:59855160-59855310	BJ	skin:	n/a	n/a
4	CTCF	chr15:59855100-59855250	HCFaa	heart:	n/a	chr15:59855113-59855120
5	CTCF	chr15:59855139-59855279	LNCaP	prostate:	n/a	n/a
6	CTCF	chr15:59854946-59855415	A549	lung:	n/a	chr15:59855113-59855120
7	CTCF	chr15:59854960-59855110	HFF	foreskin:	n/a	n/a
8	CTCF	chr15:59855120-59855270	HA-sp	spinal cord:	n/a	n/a
9	CTCF	chr15:59855092-59855299	HUVEC	blood vessel:	n/a	chr15:59855113-59855120
10	CTCF	chr15:59855060-59855210	RPTEC	kidney:	n/a	chr15:59855113-59855120
11	CTCF	chr15:59855100-59855250	HBMEC	blood vessel:	n/a	chr15:59855113-59855120
12	CTCF	chr15:59854800-59854950	NHLF	lung:	n/a	n/a
13	CTCF	chr15:59855120-59855270	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr15:59855120-59855270	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr15:59855165-59855246	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr15:59855060-59855210	HMEC	breast:	n/a	chr15:59855113-59855120
17	CTCF	chr15:59854840-59854990	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr15:59855080-59855230	AG04450	lung:	n/a	chr15:59855113-59855120
19	CTCF	chr15:59855120-59855270	HMF	breast:	n/a	n/a
20	CTCF	chr15:59855100-59855250	WI-38	lung:	n/a	chr15:59855113-59855120
21	CTCF	chr15:59854873-59855398	HCT-116	colon:	n/a	chr15:59855113-59855120
22	CTCF	chr15:59855060-59855210	Hela-S3	cervix:	n/a	chr15:59855113-59855120
23	CTCF	chr15:59855220-59855370	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr15:59855040-59855190	Hela-S3	cervix:	n/a	chr15:59855113-59855120
25	CTCF	chr15:59855017-59855336	IMR90	lung:	n/a	chr15:59855113-59855120
26	CTCF	chr15:59854960-59855110	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr15:59855100-59855250	HRPEpiC	eye:	n/a	chr15:59855113-59855120
28	CTCF	chr15:59854660-59854810	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr15:59855060-59855210	GM12875	blood:	n/a	chr15:59855113-59855120
30	CTCF	chr15:59855120-59855270	HCT-116	colon:	n/a	n/a
31	CTCF	chr15:59855123-59855270	K562	blood:	n/a	n/a
32	CTCF	chr15:59855100-59855250	NHDF-neo	bronchial:	n/a	chr15:59855113-59855120
33	CTCF	chr15:59855140-59855290	AG10803	skin:	n/a	n/a
34	CTCF	chr15:59855080-59855230	HMF	breast:	n/a	chr15:59855113-59855120
35	CTCF	chr15:59855100-59855250	HepG2	liver:	n/a	chr15:59855113-59855120
36	CTCF	chr15:59855109-59855277	Hela-S3	cervix:	n/a	chr15:59855113-59855120
37	CTCF	chr15:59855127-59855269	GM12878	blood:	n/a	n/a
38	CTCF	chr15:59855014-59855313	A549	lung:	n/a	chr15:59855113-59855120
39	CTCF	chr15:59855120-59855270	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr15:59855160-59855310	AG09319	gingival:	n/a	n/a
41	CTCF	chr15:59855080-59855230	HRE	kidney:	n/a	chr15:59855113-59855120
42	CTCF	chr15:59855100-59855250	HCPEpiC	choroid plexus:	n/a	chr15:59855113-59855120
43	CTCF	chr15:59855040-59855190	HFF-Myc	foreskin:	n/a	chr15:59855113-59855120
44	CTCF	chr15:59855040-59855190	GM06990	blood:	n/a	chr15:59855113-59855120
45	CTCF	chr15:59855080-59855230	HL-60	blood:	n/a	chr15:59855113-59855120
46	CTCF	chr15:59855160-59855310	HPF	lung:	n/a	n/a
47	CTCF	chr15:59855040-59855190	HCM	heart:	n/a	chr15:59855113-59855120
48	CTCF	chr15:59855120-59855270	AG09309	skin:	n/a	n/a
49	CTCF	chr15:59855140-59855290	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr15:59855160-59855310	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59824873..59825654-chr15:59854728..59855447,3	K562	blood:
2	chr15:59848605..59850889-chr15:59851125..59852775,2	K562	blood:
3	chr15:59854619..59857968-chr15:59858915..59861459,3	MCF-7	breast:
4	chr15:59824741..59825604-chr15:59854999..59855608,3	MCF-7	breast:
5	chr15:59843949..59845502-chr15:59854389..59856261,2	MCF-7	breast:
6	chr15:59848605..59850889-chr15:59851125..59852775,2	K562	blood:
7	chr15:59843141..59845344-chr15:59847957..59850222,2	K562	blood:

Variant related genes	Relation type
ENSG00000240238	TF binding region
ENSG00000240238	chromatin interactions

Extended variants
information (count: 391 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6494119	chr15:59848471-59848472	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7181219	chr15:59848502-59848503	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138198524	chr15:59848503-59848504	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531732637	chr15:59848504-59848505	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs8041216	chr15:59848505-59848506	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568170998	chr15:59848511-59848512	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142315281	chr15:59848537-59848538	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7181242	chr15:59848556-59848557	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs566268996	chr15:59848557-59848558	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540106448	chr15:59848583-59848584	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558306426	chr15:59848717-59848718	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191926682	chr15:59848723-59848724	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374687560	chr15:59848751-59848752	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569931890	chr15:59848763-59848764	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145924272	chr15:59848868-59848869	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368192938	chr15:59848879-59848880	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558678444	chr15:59848883-59848884	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76643323	chr15:59848906-59848907	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535667894	chr15:59848908-59848909	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372387399	chr15:59848910-59848911	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557544133	chr15:59848913-59848914	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553910593	chr15:59848932-59848933	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376976925	chr15:59848944-59848945	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs138859454	chr15:59848955-59848956	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559326434	chr15:59848959-59848960	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546069567	chr15:59848967-59848968	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35631395	chr15:59848978-59848979	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs117165253	chr15:59848991-59848992	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149367291	chr15:59849006-59849007	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144743437	chr15:59849032-59849033	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372614536	chr15:59849074-59849075	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529321764	chr15:59849079-59849080	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543833436	chr15:59849083-59849084	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184173701	chr15:59849088-59849089	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186693311	chr15:59849126-59849127	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189729306	chr15:59849155-59849156	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533499225	chr15:59849216-59849217	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148073949	chr15:59849230-59849231	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182345083	chr15:59849247-59849248	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570320853	chr15:59849250-59849251	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187008597	chr15:59849266-59849267	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376856656	chr15:59849267-59849268	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549773679	chr15:59849268-59849269	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568188738	chr15:59849269-59849270	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368669967	chr15:59849280-59849281	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535517735	chr15:59849296-59849297	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546081274	chr15:59849339-59849340	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553724402	chr15:59849366-59849367	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572202876	chr15:59849380-59849381	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112060935	chr15:59849386-59849387	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	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
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	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

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59841600-59861600	Weak transcription	Gastric	stomach
2	chr15:59843600-59851200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:59845400-59849200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:59845600-59849000	Enhancers	HMEC	breast
5	chr15:59846000-59848600	Enhancers	Fetal Intestine Large	intestine
6	chr15:59846000-59848800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:59846000-59848800	Enhancers	Duodenum Mucosa	Duodenum
8	chr15:59846000-59848800	Enhancers	Fetal Intestine Small	intestine
9	chr15:59846000-59848800	Enhancers	Stomach Mucosa	stomach
10	chr15:59846000-59848800	Enhancers	NHEK	skin
11	chr15:59847600-59848800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr15:59847600-59849400	Enhancers	Small Intestine	intestine
13	chr15:59848000-59848800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr15:59848000-59849000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:59848200-59848800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:59848200-59848800	Flanking Active TSS	Hela-S3	cervix
17	chr15:59848200-59848800	Enhancers	HSMMtube	muscle
18	chr15:59848200-59849400	Bivalent Enhancer	HepG2	liver
19	chr15:59848200-59850200	Enhancers	K562	blood
20	chr15:59848400-59848600	Active TSS	Colonic Mucosa	Colon
21	chr15:59848400-59848600	Flanking Active TSS	A549	lung
22	chr15:59848400-59848800	Enhancers	NHDF-Ad	bronchial
23	chr15:59848400-59850200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr15:59848400-59851000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:59848400-59851000	Weak transcription	Osteobl	bone
26	chr15:59848600-59848800	Flanking Active TSS	Colonic Mucosa	Colon
27	chr15:59848600-59848800	Enhancers	A549	lung
28	chr15:59848600-59850200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr15:59848800-59849000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr15:59848800-59850600	Weak transcription	Fetal Intestine Small	intestine
31	chr15:59848800-59850600	Weak transcription	A549	lung
32	chr15:59848800-59851200	Enhancers	Hela-S3	cervix
33	chr15:59848800-59851400	Weak transcription	Stomach Mucosa	stomach
34	chr15:59848800-59857600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:59849000-59850800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:59849000-59853600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:59849200-59850600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:59849400-59851200	Weak transcription	Small Intestine	intestine
39	chr15:59850000-59850800	Enhancers	GM12878-XiMat	blood
40	chr15:59850000-59851200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr15:59850200-59853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:59850600-59851000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:59850600-59851000	Enhancers	Fetal Intestine Small	intestine
44	chr15:59850600-59851200	Enhancers	A549	lung
45	chr15:59850600-59852000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:59850800-59851200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:59851000-59851200	Enhancers	Osteobl	bone
48	chr15:59851000-59851400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:59851000-59859000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:59851200-59851600	Active TSS	Osteobl	bone

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