Variant report

Variant	esv3467723
Chromosome Location	chr4:165869902-165875000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:183)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:183 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:165870695-165870896	MCF-7	breast:	n/a	n/a
2	CTCF	chr4:165870740-165870890	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr4:165871022-165871180	MCF-7	breast:	n/a	n/a
4	CTCF	chr4:165870780-165870930	GM12878	blood:	n/a	n/a
5	CTCF	chr4:165871055-165871176	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr4:165870738-165870854	A549	lung:	n/a	n/a
7	CTCF	chr4:165870960-165871110	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr4:165870720-165870870	HPF	lung:	n/a	n/a
9	CTCF	chr4:165870700-165870850	HMF	breast:	n/a	n/a
10	CTCF	chr4:165870748-165870855	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr4:165870740-165870890	GM12867	blood:	n/a	n/a
12	CTCF	chr4:165870988-165871179	Fibrobl	skin:	n/a	n/a
13	CTCF	chr4:165870640-165870790	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr4:165870680-165870830	HCT-116	colon:	n/a	n/a
15	CTCF	chr4:165870725-165870881	HepG2	liver:	n/a	n/a
16	CTCF	chr4:165870704-165870846	HepG2	liver:	n/a	n/a
17	CTCF	chr4:165870800-165870950	GM12868	blood:	n/a	n/a
18	CTCF	chr4:165870709-165870876	MCF-7	breast:	n/a	n/a
19	CTCF	chr4:165870700-165870850	HPF	lung:	n/a	n/a
20	CTCF	chr4:165870740-165870890	GM12873	blood:	n/a	n/a
21	CTCF	chr4:165870740-165870890	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr4:165870680-165870830	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr4:165870980-165871130	SAEC	small airway:	n/a	n/a
24	CTCF	chr4:165870728-165870862	GM10266	blood:	n/a	n/a
25	CTCF	chr4:165870709-165870882	K562	blood:	n/a	n/a
26	CTCF	chr4:165870720-165870870	GM12865	blood:	n/a	n/a
27	CTCF	chr4:165870740-165870890	HRE	kidney:	n/a	n/a
28	CTCF	chr4:165870784-165870799	GM13976	blood:	n/a	n/a
29	CTCF	chr4:165870960-165871110	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr4:165871056-165871137	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:165870960-165871110	HMF	breast:	n/a	n/a
32	CTCF	chr4:165870700-165870850	NB4	blood:	n/a	n/a
33	CTCF	chr4:165870920-165871070	NB4	blood:	n/a	n/a
34	CTCF	chr4:165870640-165870790	RPTEC	kidney:	n/a	n/a
35	CTCF	chr4:165870680-165870830	GM12874	blood:	n/a	n/a
36	CTCF	chr4:165870720-165870870	HMEC	breast:	n/a	n/a
37	CTCF	chr4:165871020-165871170	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr4:165870670-165870920	GM12878	blood:	n/a	n/a
39	CTCF	chr4:165870720-165870870	GM12864	blood:	n/a	n/a
40	CTCF	chr4:165870700-165870850	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr4:165870680-165870830	GM12868	blood:	n/a	n/a
42	CTCF	chr4:165870680-165870830	HMF	breast:	n/a	n/a
43	CTCF	chr4:165870740-165870890	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr4:165871078-165871146	GM10266	blood:	n/a	n/a
45	CTCF	chr4:165870600-165870750	HMEC	breast:	n/a	n/a
46	CTCF	chr4:165870602-165871238	GM12878	blood:	n/a	n/a
47	CTCF	chr4:165870695-165870917	GM12891	blood:	n/a	n/a
48	CTCF	chr4:165870720-165870870	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr4:165870640-165870790	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr4:165870714-165870869	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:165868972..165872041-chr4:165876298..165879460,3	MCF-7	breast:
2	chr4:165874581..165877460-chr4:165878651..165880772,2	K562	blood:
3	chr4:165868495..165870203-chr4:165872665..165874987,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM218A	TF binding region
ENSG00000236941	chromatin interactions
ENSG00000250486	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531258737	chr4:165869903-165869904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10020142	chr4:165869919-165869920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548565235	chr4:165869950-165869951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569643387	chr4:165869990-165869991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371358284	chr4:165870003-165870004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537420551	chr4:165870013-165870014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142233344	chr4:165870030-165870031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192286670	chr4:165870031-165870032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77003399	chr4:165870051-165870052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528925248	chr4:165870053-165870054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553550551	chr4:165870066-165870067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571884169	chr4:165870078-165870079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542926221	chr4:165870123-165870124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561011119	chr4:165870134-165870135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576413922	chr4:165870151-165870152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145607102	chr4:165870163-165870164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543450196	chr4:165870217-165870218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7695257	chr4:165870235-165870236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184296777	chr4:165870237-165870238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188778226	chr4:165870322-165870323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145781922	chr4:165870360-165870361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562393944	chr4:165870391-165870392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530215587	chr4:165870441-165870442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534395646	chr4:165870466-165870467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201430147	chr4:165870477-165870478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369953105	chr4:165870490-165870491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181204499	chr4:165870519-165870520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570248765	chr4:165870529-165870530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4370095	chr4:165870538-165870539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs75380423	chr4:165870553-165870554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369698192	chr4:165870560-165870561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538371606	chr4:165870583-165870584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553419659	chr4:165870587-165870588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571947235	chr4:165870633-165870634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536039824	chr4:165870643-165870644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554896132	chr4:165870663-165870664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4425332	chr4:165870669-165870670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537353048	chr4:165870698-165870699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565283467	chr4:165870723-165870724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs147763664	chr4:165870736-165870737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184772055	chr4:165870745-165870746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189221618	chr4:165870756-165870757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556935217	chr4:165870782-165870783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141098400	chr4:165870812-165870813	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180822828	chr4:165870837-165870838	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531112244	chr4:165870839-165870840	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552422926	chr4:165870857-165870858	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570929066	chr4:165870882-165870883	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4234889	chr4:165870952-165870953	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73871545	chr4:165870956-165870957	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	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
Breast cancer	17393978	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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165866800-165870800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:165867000-165870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:165869000-165871200	Enhancers	Fetal Muscle Leg	muscle
4	chr4:165869400-165870200	Weak transcription	GM12878-XiMat	blood
5	chr4:165869600-165870200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:165869600-165870800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:165870200-165871200	Enhancers	GM12878-XiMat	blood
8	chr4:165870800-165871000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:165870800-165871000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr4:165870800-165871200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:165870800-165871200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:165870800-165871200	Bivalent Enhancer	Psoas Muscle	Psoas
13	chr4:165870800-165871400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:165870800-165871400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:165871000-165874800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:165871000-165877800	Weak transcription	Spleen	Spleen
17	chr4:165871200-165875000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:165871200-165877600	Weak transcription	GM12878-XiMat	blood
19	chr4:165873400-165875000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:165873800-165874000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:165873800-165874000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:165874000-165874200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr4:165874000-165877800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:165874000-165878000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:165874200-165877800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:165874800-165875200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr4:165875000-165875200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:165875000-165875400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:165875000-165875600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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