Variant report

Variant	esv3380332
Chromosome Location	chr4:661052-664650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr4:662434-663124	GM12878	blood:	n/a	n/a
2	BCL11A	chr4:663228-663616	GM12878	blood:	n/a	n/a
3	CHD2	chr4:663597-663787	K562	blood:	n/a	n/a
4	CHD2	chr4:661619-661693	K562	blood:	n/a	n/a
5	ELF1	chr4:663647-664020	GM12878	blood:	n/a	n/a
6	EP300	chr4:662981-663252	SK-N-SH_RA	brain:	n/a	n/a
7	FOSL2	chr4:662221-662617	HepG2	liver:	n/a	n/a
8	FOSL2	chr4:662988-663635	HepG2	liver:	n/a	n/a
9	FOXA1	chr4:663547-663692	T-47D	breast:	n/a	n/a
10	HEY1	chr4:663154-663347	HepG2	liver:	n/a	n/a
11	HEY1	chr4:664325-664508	HepG2	liver:	n/a	n/a
12	HEY1	chr4:662185-663145	K562	blood:	n/a	n/a
13	IRF4	chr4:663125-663639	GM12878	blood:	n/a	n/a
14	IRF4	chr4:662136-663053	GM12878	blood:	n/a	n/a
15	JUND	chr4:663024-663552	HepG2	liver:	n/a	n/a
16	JUND	chr4:663236-663544	HepG2	liver:	n/a	n/a
17	MTA3	chr4:664238-665184	GM12878	blood:	n/a	n/a
18	MYC	chr4:661189-661261	MCF-7	breast:	n/a	n/a
19	NFATC1	chr4:663535-663963	GM12878	blood:	n/a	n/a
20	NFATC1	chr4:663551-664030	GM12878	blood:	n/a	n/a
21	PAX5	chr4:663272-663583	GM12878	blood:	n/a	n/a
22	PAX5	chr4:662432-662766	GM12878	blood:	n/a	n/a
23	PAX5	chr4:663262-663576	GM12878	blood:	n/a	n/a
24	PBX3	chr4:662264-663545	GM12878	blood:	n/a	n/a
25	PBX3	chr4:662279-663545	GM12878	blood:	n/a	n/a
26	PML	chr4:664180-664650	K562	blood:	n/a	n/a
27	PML	chr4:664460-665178	K562	blood:	n/a	n/a
28	POLR2A	chr4:662508-662986	A549	lung:	n/a	n/a
29	POLR2A	chr4:661694-661920	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr4:662960-663996	MCF-7	breast:	n/a	n/a
31	POLR2A	chr4:664328-664363	MCF-7	breast:	n/a	n/a
32	POLR2A	chr4:661271-661483	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr4:663505-664061	K562	blood:	n/a	n/a
34	POLR2A	chr4:664536-665006	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr4:662144-662312	MCF-7	breast:	n/a	n/a
36	POLR2A	chr4:662492-663016	HepG2	liver:	n/a	n/a
37	POLR2A	chr4:662085-663984	GM12892	blood:	n/a	n/a
38	POLR2A	chr4:660469-661575	K562	blood:	n/a	n/a
39	POLR2A	chr4:664304-665170	GM12891	blood:	n/a	n/a
40	POLR2A	chr4:661127-661457	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:662082-662136	MCF-7	breast:	n/a	n/a
42	POLR2A	chr4:663555-664005	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr4:662079-663958	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:663161-663187	K562	blood:	n/a	n/a
45	POLR2A	chr4:664315-666558	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr4:663391-663815	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr4:660826-661061	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr4:664333-665787	K562	blood:	n/a	n/a
49	POLR2A	chr4:664631-665150	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr4:664275-665102	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:664408..666949-chr4:770697..772344,2	MCF-7	breast:
2	chr4:624127..625792-chr4:659574..661910,2	K562	blood:
3	chr4:608874..610845-chr4:663421..664979,2	K562	blood:
4	chr4:507198..510006-chr4:664346..666104,2	K562	blood:
5	chr4:663475..665943-chr8:145718684..145721269,2	MCF-7	breast:
6	chr4:658187..662144-chr4:672176..676426,5	MCF-7	breast:
7	chr4:642255..644273-chr4:662905..665187,2	K562	blood:
8	chr4:604595..606902-chr4:659011..661677,2	MCF-7	breast:
9	chr4:663922..666504-chr4:705768..707927,2	MCF-7	breast:
10	chr4:494928..497132-chr4:662075..663676,2	K562	blood:
11	chr4:662349..665374-chr4:675709..679343,3	MCF-7	breast:
12	chr4:606087..607621-chr4:663295..666195,2	MCF-7	breast:
13	chr4:659915..661797-chr4:678502..681322,2	MCF-7	breast:
14	chr4:640175..641727-chr4:663332..665885,2	K562	blood:
15	chr4:627338..629172-chr4:662112..664476,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYL5	TF binding region
ENSG00000215375	chromatin interactions
ENSG00000174227	chromatin interactions
ENSG00000169026	chromatin interactions

Extended variants
information (count: 239 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558174585	chr4:661054-661055	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200554290	chr4:661085-661086	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576553388	chr4:661090-661091	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555866026	chr4:661108-661109	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs79136028	chr4:661114-661115	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs541194774	chr4:661123-661124	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559289483	chr4:661176-661177	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553472292	chr4:661177-661178	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs112530326	chr4:661239-661240	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112072140	chr4:661248-661249	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562919266	chr4:661249-661250	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184407586	chr4:661251-661252	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368581228	chr4:661256-661257	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs548716034	chr4:661274-661275	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567325917	chr4:661277-661278	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376359440	chr4:661278-661279	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547929565	chr4:661296-661297	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566317568	chr4:661337-661338	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540134279	chr4:661365-661366	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558517675	chr4:661433-661434	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570052073	chr4:661449-661450	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537408912	chr4:661463-661464	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs35978649	chr4:661506-661507	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190467582	chr4:661507-661508	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs574033893	chr4:661512-661513	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534821026	chr4:661520-661521	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553126810	chr4:661553-661554	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577440994	chr4:661581-661582	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs182136597	chr4:661593-661594	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs138737461	chr4:661602-661603	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs117027900	chr4:661603-661604	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369466418	chr4:661632-661633	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542561794	chr4:661633-661634	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs74411086	chr4:661663-661664	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368678748	chr4:661674-661675	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143154045	chr4:661683-661684	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs546425862	chr4:661688-661689	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559964930	chr4:661693-661694	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200002559	chr4:661701-661702	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs121918583	chr4:661711-661712	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376363879	chr4:661719-661720	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs138682290	chr4:661762-661763	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs368110918	chr4:661768-661769	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs149346690	chr4:661806-661807	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570338359	chr4:661824-661825	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537349562	chr4:661863-661864	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs28568555	chr4:661931-661932	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs532553970	chr4:661939-661940	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs28483373	chr4:661955-661956	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs535094024	chr4:661958-661959	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:658000-664400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:658000-667000	Weak transcription	Small Intestine	intestine
3	chr4:658000-667400	Weak transcription	Aorta	Aorta
4	chr4:658200-664400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:658200-664400	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:658200-664400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:658200-664400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:658200-664600	Weak transcription	Pancreas	Pancrea
9	chr4:658200-664600	Weak transcription	HUVEC	blood vessel
10	chr4:658200-664800	Weak transcription	Gastric	stomach
11	chr4:658200-665000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:658200-666800	Weak transcription	Right Atrium	heart
13	chr4:658200-667000	Weak transcription	Stomach Mucosa	stomach
14	chr4:658200-667200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:658400-662000	Enhancers	Fetal Muscle Trunk	muscle
16	chr4:658400-663600	Weak transcription	Fetal Stomach	stomach
17	chr4:658400-663800	Weak transcription	Primary T cells from cord blood	blood
18	chr4:658400-663800	Weak transcription	Brain Germinal Matrix	brain
19	chr4:658400-664400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:658400-664400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:658400-664400	Weak transcription	Liver	Liver
22	chr4:658400-664400	Weak transcription	Left Ventricle	heart
23	chr4:658400-664400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:658400-664400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:658400-664400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:658400-664400	Weak transcription	HMEC	breast
27	chr4:658400-664600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:658400-664600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:658400-664600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr4:658400-664600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:658400-664600	Weak transcription	Fetal Brain Female	brain
32	chr4:658400-664600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:658400-664600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:658400-664600	Weak transcription	NH-A	brain
35	chr4:658400-664800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:658400-665000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:658400-665000	Weak transcription	Fetal Lung	lung
38	chr4:658400-665200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:658400-665200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:658400-665200	Weak transcription	Right Ventricle	heart
41	chr4:658400-665400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:658400-665400	Weak transcription	Fetal Kidney	kidney
43	chr4:658400-667000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:658600-664400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr4:658600-667000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:658600-667000	Weak transcription	Fetal Brain Male	brain
47	chr4:658800-664200	Weak transcription	Thymus	Thymus
48	chr4:658800-664400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:658800-664400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:658800-664400	Weak transcription	Fetal Thymus	thymus

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