Variant report

Variant	nsv881376
Chromosome Location	chr4:175466101-175513812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:175508895-175508986	K562	blood:	n/a	n/a
2	BACH1	chr4:175484617-175484634	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:175479654-175479661	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr4:175512809-175512975	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:175506658-175506738	K562	blood:	n/a	n/a
6	CBX3	chr4:175469281-175469645	K562	blood:	n/a	n/a
7	CCNT2	chr4:175501917-175502063	K562	blood:	n/a	n/a
8	CEBPB	chr4:175477693-175477841	K562	blood:	n/a	chr4:175477743-175477756
9	CEBPB	chr4:175503136-175503409	HepG2	liver:	n/a	chr4:175503243-175503254
10	CEBPB	chr4:175503125-175503365	K562	blood:	n/a	chr4:175503243-175503254
11	CEBPB	chr4:175503147-175503309	A549	lung:	n/a	chr4:175503243-175503254
12	CEBPB	chr4:175503141-175503402	Hela-S3	cervix:	n/a	chr4:175503243-175503254
13	CEBPB	chr4:175477658-175477767	A549	lung:	n/a	chr4:175477743-175477756
14	CEBPB	chr4:175482669-175483172	A549	lung:	n/a	chr4:175482672-175482684 chr4:175482887-175482900
15	CEBPD	chr4:175512801-175513125	K562	blood:	n/a	n/a
16	CHD2	chr4:175512904-175512978	GM12878	blood:	n/a	n/a
17	CTCF	chr4:175505120-175505161	K562	blood:	n/a	n/a
18	CTCF	chr4:175505200-175505350	BE2_C	brain:	n/a	n/a
19	CTCF	chr4:175502630-175502655	MCF-7	breast:	n/a	n/a
20	CTCF	chr4:175505046-175505172	Lung_OC	lung:	n/a	n/a
21	CTCF	chr4:175472229-175472270	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr4:175506720-175506870	GM12878	blood:	n/a	n/a
23	CTCF	chr4:175505220-175505370	HCT-116	colon:	n/a	n/a
24	CTCF	chr4:175502560-175502710	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr4:175481180-175481330	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr4:175502951-175503012	K562	blood:	n/a	n/a
27	CTCF	chr4:175505083-175505153	MCF-7	breast:	n/a	n/a
28	CTCF	chr4:175502520-175502670	HPF	lung:	n/a	n/a
29	CTCF	chr4:175505064-175505185	MCF-7	breast:	n/a	n/a
30	CTCF	chr4:175505120-175505270	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:175502440-175502590	BE2_C	brain:	n/a	n/a
32	CTCF	chr4:175505074-175505163	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr4:175505080-175505230	GM12874	blood:	n/a	n/a
34	CTCF	chr4:175504980-175505130	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr4:175481400-175481550	NHEK	skin:	n/a	n/a
36	CTCF	chr4:175502661-175502718	K562	blood:	n/a	n/a
37	CTCF	chr4:175481140-175481290	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr4:175501460-175501610	AG09319	gingival:	n/a	n/a
39	CTCF	chr4:175502661-175502665	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:175505069-175505191	MCF-7	breast:	n/a	n/a
41	CTCF	chr4:175501022-175501068	GM20000	blood:	n/a	n/a
42	CTCF	chr4:175505020-175505170	HCT-116	colon:	n/a	n/a
43	CTCF	chr4:175505063-175505238	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:175503440-175503590	BE2_C	brain:	n/a	n/a
45	CTCF	chr4:175505073-175505155	NHEK	skin:	n/a	n/a
46	CTCF	chr4:175476139-175476182	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr4:175505069-175505172	LNCaP	prostate:	n/a	n/a
48	CTCF	chr4:175502580-175502730	A549	lung:	n/a	n/a
49	CTCF	chr4:175505080-175505230	NHEK	skin:	n/a	n/a
50	CTCF	chr4:175481200-175481350	NHEK	skin:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:175505435..175507439-chr4:175508073..175510224,2	K562	blood:
2	chr4:175512708..175515065-chr4:175517080..175519452,2	K562	blood:
3	chr4:175513163..175515065-chr4:175517080..175519428,2	K562	blood:
4	chr4:175478843..175480644-chr4:175480681..175483174,2	MCF-7	breast:
5	chr4:175478907..175480414-chr4:175480826..175482541,2	K562	blood:
6	chr4:175478843..175480644-chr4:175480681..175483174,2	MCF-7	breast:
7	chr4:175478907..175480414-chr4:175480826..175482541,2	K562	blood:
8	chr4:175505435..175507439-chr4:175508073..175510224,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250596	TF binding region
ENSG00000250760	TF binding region

Extended variants
information (count: 1928 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1928 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2555674	chr4:175466101-175466102	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571051412	chr4:175466149-175466150	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs111257750	chr4:175466161-175466162	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs553715299	chr4:175466163-175466164	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs566444393	chr4:175466298-175466299	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs181168912	chr4:175466318-175466319	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs185333258	chr4:175466327-175466328	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs548977446	chr4:175466328-175466329	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs555482067	chr4:175466352-175466353	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs577339782	chr4:175466402-175466403	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs141327996	chr4:175466464-175466465	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs189801484	chr4:175466489-175466490	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567419442	chr4:175466508-175466509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577766473	chr4:175466718-175466719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540101533	chr4:175466783-175466784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146970635	chr4:175466800-175466801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369093270	chr4:175466807-175466808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528445764	chr4:175466894-175466895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545907953	chr4:175466897-175466898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6811079	chr4:175466963-175466964	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115477460	chr4:175466973-175466974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2253442	chr4:175466983-175466984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550797428	chr4:175467051-175467052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184080539	chr4:175467053-175467054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533380124	chr4:175467059-175467060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150985525	chr4:175467128-175467129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369718371	chr4:175467177-175467178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188956376	chr4:175467279-175467280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373745571	chr4:175467306-175467307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113039035	chr4:175467343-175467344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555443167	chr4:175467352-175467353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113687652	chr4:175467365-175467366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2253360	chr4:175467458-175467459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566567758	chr4:175467459-175467460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191717730	chr4:175467471-175467472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548659896	chr4:175467516-175467517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368720088	chr4:175467517-175467518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140003323	chr4:175467537-175467538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540065736	chr4:175467545-175467546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553634683	chr4:175467554-175467555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573636316	chr4:175467578-175467579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115763220	chr4:175467664-175467665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2253349	chr4:175467680-175467681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530818084	chr4:175467685-175467686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2612664	chr4:175467702-175467703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183733894	chr4:175467703-175467704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368386836	chr4:175467704-175467705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568971250	chr4:175467705-175467706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187275409	chr4:175467738-175467739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370584983	chr4:175467815-175467816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175461400-175474200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:175465600-175468800	Enhancers	Liver	Liver
3	chr4:175466600-175484600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:175469200-175471000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:175470200-175471600	Enhancers	Stomach Mucosa	stomach
6	chr4:175470200-175471800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:175470800-175471000	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:175470800-175471200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:175471000-175472400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:175471200-175471800	Enhancers	NHDF-Ad	bronchial
11	chr4:175471200-175474000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:175471400-175471800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:175471400-175472200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:175471400-175472200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:175471400-175472400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:175471400-175472400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:175471600-175472200	Enhancers	Fetal Intestine Small	intestine
18	chr4:175471600-175472200	Enhancers	Fetal Stomach	stomach
19	chr4:175471600-175473400	Enhancers	Placenta	Placenta
20	chr4:175471600-175476600	Weak transcription	Stomach Mucosa	stomach
21	chr4:175471800-175472000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:175471800-175474200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:175471800-175474200	Weak transcription	NHDF-Ad	bronchial
24	chr4:175472000-175472400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:175472200-175472800	Weak transcription	Fetal Intestine Small	intestine
26	chr4:175472200-175475400	Weak transcription	Fetal Stomach	stomach
27	chr4:175472400-175473000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:175473400-175476800	Weak transcription	Fetal Intestine Small	intestine
29	chr4:175473400-175478400	Weak transcription	Placenta	Placenta
30	chr4:175474000-175476000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:175474200-175474800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:175474200-175475800	Enhancers	NHDF-Ad	bronchial
33	chr4:175474200-175475800	Enhancers	NHEK	skin
34	chr4:175474200-175476000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:175474600-175475000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:175474600-175476000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:175474800-175475000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:175474800-175476000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:175475000-175475400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:175475000-175475400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:175475000-175476000	Enhancers	HMEC	breast
42	chr4:175475400-175475600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:175475400-175475800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:175475400-175475800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:175475400-175475800	Enhancers	Fetal Stomach	stomach
46	chr4:175475400-175476000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:175475600-175476000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:175475600-175477000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr4:175475800-175479000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:175475800-175480800	Weak transcription	Fetal Stomach	stomach

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