Variant report

Variant	nsv528518
Chromosome Location	chr4:100258155-100274749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:245)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:100261463-100261557	HepG2	liver:	n/a	chr4:100261521-100261532
2	CTCF	chr4:100264629-100264713	GM13976	blood:	n/a	n/a
3	CTCF	chr4:100266134-100266249	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXA1	chr4:100273786-100274058	T-47D	breast:	n/a	n/a
5	MYC	chr4:100266091-100266117	MCF-7	breast:	n/a	n/a
6	MYC	chr4:100266126-100266191	MCF-7	breast:	n/a	n/a
7	POLR2A	chr4:100273612-100273698	ProgFib	skin:	n/a	n/a
8	POLR2A	chr4:100268910-100268923	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:100266071-100266082	A549	lung:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100274710-100274760	PrEC	prostate:	n/a
2	chr4:100274710-100274760	PrEC	prostate:	n/a
3	chr4:100274039-100274089	PANC-1	pancreas:	n/a
4	chr4:100273995-100274045	MCF-7	breast:	n/a
5	chr4:100273995-100274045	HEEpiC	esophagus:	n/a
6	chr4:100274710-100274760	SK-N-MC	brain:	n/a
7	chr4:100273995-100274045	AG09309	skin:	n/a
8	chr4:100274039-100274089	RPTEC	kidney:	n/a
9	chr4:100274039-100274089	HL-60	blood:	n/a
10	chr4:100274039-100274089	BJ	skin:	n/a
11	chr4:100273995-100274045	Hela-S3	cervix:	n/a
12	chr4:100274039-100274089	Hela-S3	cervix:	n/a
13	chr4:100274039-100274089	BE2_C	brain:	n/a
14	chr4:100274039-100274089	NHDF-neo	bronchial:	n/a
15	chr4:100273995-100274045	GM06990	blood:	n/a
16	chr4:100274039-100274089	Jurkat	blood:	n/a
17	chr4:100274660-100274710	SAEC	small airway:	n/a
18	chr4:100274710-100274760	ECC-1	luminal epithelium:	n/a
19	chr4:100274710-100274760	HNPCEpiC	eye:	n/a
20	chr4:100273995-100274045	NH-A	brain:	n/a
21	chr4:100273995-100274045	HCF	heart:	n/a
22	chr4:100274039-100274089	HNPCEpiC	eye:	n/a
23	chr4:100274039-100274089	GM06990	blood:	n/a
24	chr4:100273995-100274045	PFSK-1	brain:	n/a
25	chr4:100274039-100274089	CMK	blood:	n/a
26	chr4:100273995-100274045	BE2_C	brain:	n/a
27	chr4:100274710-100274760	NH-A	brain:	n/a
28	chr4:100274039-100274089	SAEC	small airway:	n/a
29	chr4:100274660-100274710	HUVEC	blood vessel:	n/a
30	chr4:100274710-100274760	LNCaP	prostate:	n/a
31	chr4:100274660-100274710	AG10803	skin:	n/a
32	chr4:100273995-100274045	HNPCEpiC	eye:	n/a
33	chr4:100274660-100274710	HAEpiC	amniotic membrane:	n/a
34	chr4:100273995-100274045	HRE	kidney:	n/a
35	chr4:100273995-100274045	SK-N-SH_RA	brain:	n/a
36	chr4:100274039-100274089	PrEC	prostate:	n/a
37	chr4:100274660-100274710	ECC-1	luminal epithelium:	n/a
38	chr4:100274710-100274760	HCPEpiC	choroid plexus:	n/a
39	chr4:100274039-100274089	HEEpiC	esophagus:	n/a
40	chr4:100273995-100274045	K562	blood:	n/a
41	chr4:100274710-100274760	NHBE	bronchial:	n/a
42	chr4:100274710-100274760	SKMC	muscle:	n/a
43	chr4:100274660-100274710	MCF10A-Er-Src	breast:	n/a
44	chr4:100273995-100274045	LNCaP	prostate:	n/a
45	chr4:100273995-100274045	HRPEpiC	eye:	n/a
46	chr4:100274039-100274089	NB4	blood:	n/a
47	chr4:100273995-100274045	CMK	blood:	n/a
48	chr4:100274660-100274710	BJ	skin:	n/a
49	chr4:100274039-100274089	A549	lung:	n/a
50	chr4:100273995-100274045	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100259144..100260774-chr4:100261569..100263685,2	K562	blood:
2	chr4:100259144..100260774-chr4:100261569..100263685,2	K562	blood:

No data

Variant related genes	Relation type
ADH1C	TF binding region
ADH1C	CpG island

Extended variants
information (count: 681 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:681 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1614972	chr4:100258155-100258156	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531127001	chr4:100258198-100258199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1391088	chr4:100258224-100258225	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs200798677	chr4:100258225-100258226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191359426	chr4:100258246-100258247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546791953	chr4:100258274-100258275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537341989	chr4:100258297-100258298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372252539	chr4:100258315-100258316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1789898	chr4:100258336-100258337	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183172107	chr4:100258341-100258342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576978457	chr4:100258342-100258343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1662033	chr4:100258381-100258382	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553223839	chr4:100258423-100258424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536832922	chr4:100258427-100258428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555564809	chr4:100258440-100258441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7658726	chr4:100258494-100258495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574850669	chr4:100258521-100258522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541086685	chr4:100258553-100258554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1693454	chr4:100258611-100258612	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369517826	chr4:100258620-100258621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3910713	chr4:100258648-100258649	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1442479	chr4:100258675-100258676	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1442480	chr4:100258681-100258682	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569389188	chr4:100258696-100258697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142649388	chr4:100258706-100258707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1789900	chr4:100258717-100258718	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561507251	chr4:100258741-100258742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528684283	chr4:100258783-100258784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62307294	chr4:100258785-100258786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547023752	chr4:100258818-100258819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558933150	chr4:100258833-100258834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571695056	chr4:100258838-100258839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532361862	chr4:100258850-100258851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36019411	chr4:100258859-100258860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569592247	chr4:100258952-100258953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532313155	chr4:100258975-100258976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536920331	chr4:100259039-100259040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1442481	chr4:100259047-100259048	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs3846449	chr4:100259126-100259127	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534521430	chr4:100259301-100259302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193058265	chr4:100259344-100259345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1693456	chr4:100259351-100259352	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1789901	chr4:100259369-100259370	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139554733	chr4:100259423-100259424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575336086	chr4:100259443-100259444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183389061	chr4:100259458-100259459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537354366	chr4:100259500-100259501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78440521	chr4:100259515-100259516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561424024	chr4:100259547-100259548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200172585	chr4:100259549-100259550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100245800-100274200	Weak transcription	Pancreas	Pancrea
2	chr4:100251400-100259800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:100251400-100259800	Weak transcription	Fetal Lung	lung
4	chr4:100251400-100272800	Weak transcription	Adipose Nuclei	Adipose
5	chr4:100255000-100260400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:100256200-100261200	Weak transcription	Fetal Intestine Large	intestine
7	chr4:100256200-100267800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:100257000-100258400	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr4:100257200-100271600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:100257800-100264000	Strong transcription	Liver	Liver
11	chr4:100258000-100272800	Weak transcription	Fetal Stomach	stomach
12	chr4:100258400-100259000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:100258400-100271600	Weak transcription	Colonic Mucosa	Colon
14	chr4:100259000-100263600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr4:100259800-100261200	Enhancers	Fetal Lung	lung
16	chr4:100259800-100268600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr4:100260200-100270600	Weak transcription	Stomach Mucosa	stomach
18	chr4:100260400-100260600	Enhancers	Fetal Intestine Small	intestine
19	chr4:100260400-100262600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr4:100260600-100260800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr4:100260600-100272600	Weak transcription	Fetal Intestine Small	intestine
22	chr4:100261000-100271600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:100261200-100261400	Strong transcription	Fetal Intestine Large	intestine
24	chr4:100261200-100270600	Weak transcription	Fetal Lung	lung
25	chr4:100261200-100273800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:100261400-100261600	Enhancers	Ovary	ovary
27	chr4:100261400-100263200	Weak transcription	Fetal Intestine Large	intestine
28	chr4:100261800-100273800	Weak transcription	Ovary	ovary
29	chr4:100262600-100264000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:100263200-100265600	Strong transcription	Fetal Intestine Large	intestine
31	chr4:100263200-100273800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:100263600-100264600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:100264000-100264400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:100264000-100264600	Genic enhancers	Liver	Liver
35	chr4:100264000-100268400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr4:100264600-100265800	Strong transcription	Liver	Liver
37	chr4:100264600-100266600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr4:100264800-100267600	Weak transcription	Left Ventricle	heart
39	chr4:100264800-100274200	Weak transcription	Gastric	stomach
40	chr4:100265000-100265200	Enhancers	Small Intestine	intestine
41	chr4:100265200-100270800	Weak transcription	Small Intestine	intestine
42	chr4:100265600-100267600	Weak transcription	Fetal Intestine Large	intestine
43	chr4:100265800-100266400	Genic enhancers	Liver	Liver
44	chr4:100266400-100267600	Strong transcription	Liver	Liver
45	chr4:100266600-100267400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:100267400-100268200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr4:100267600-100268000	Transcr. at gene 5' and 3'	Liver	Liver
48	chr4:100267600-100268400	Strong transcription	Fetal Intestine Large	intestine
49	chr4:100267800-100268200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:100268000-100268200	ZNF genes & repeats	Fetal Kidney	kidney

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