Variant report

Variant	esv10056
Chromosome Location	chr4:1230368-1231788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:1230720-1230870	WERI-Rb-1	eye:	n/a	n/a
2	CTCF	chr4:1230527-1230556	GM13977	blood:	n/a	n/a
3	EP300	chr4:1231360-1231584	GM12878	blood:	n/a	n/a
4	FOSL2	chr4:1231280-1231636	HepG2	liver:	n/a	n/a
5	FOSL2	chr4:1230220-1230570	HepG2	liver:	n/a	n/a
6	HEY1	chr4:1230237-1230732	HepG2	liver:	n/a	n/a
7	HEY1	chr4:1231282-1231609	HepG2	liver:	n/a	n/a
8	MYC	chr4:1230576-1230640	HUVEC	blood vessel:	n/a	n/a
9	MYC	chr4:1230593-1230642	GM12878	blood:	n/a	n/a
10	MYC	chr4:1230491-1230571	H1-hESC	embryonic stem cell:	n/a	n/a
11	NR3C1	chr4:1230278-1230883	A549	lung:	n/a	n/a
12	PAX5	chr4:1230288-1230633	GM12878	blood:	n/a	n/a
13	PAX5	chr4:1230202-1230716	GM12878	blood:	n/a	n/a
14	PBX3	chr4:1231358-1231489	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:1230294-1230782	A549	lung:	n/a	n/a
16	POLR2A	chr4:1230220-1232117	GM12891	blood:	n/a	n/a
17	POLR2A	chr4:1230350-1230623	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr4:1231544-1232091	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:1230809-1231360	K562	blood:	n/a	n/a
20	POLR2A	chr4:1230344-1230902	HepG2	liver:	n/a	n/a
21	POLR2A	chr4:1231138-1231499	K562	blood:	n/a	n/a
22	POLR2A	chr4:1230692-1230967	K562	blood:	n/a	n/a
23	POLR2A	chr4:1230665-1230790	K562	blood:	n/a	n/a
24	POLR2A	chr4:1230594-1230644	K562	blood:	n/a	n/a
25	POLR2A	chr4:1231671-1231797	MCF-7	breast:	n/a	n/a
26	POLR2A	chr4:1231279-1231585	A549	lung:	n/a	n/a
27	POLR2A	chr4:1230267-1230769	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr4:1230086-1232145	GM12878	blood:	n/a	n/a
29	POLR2A	chr4:1230046-1232219	GM12892	blood:	n/a	n/a
30	POLR2A	chr4:1230247-1230792	A549	lung:	n/a	n/a
31	POLR2A	chr4:1230033-1232152	GM12892	blood:	n/a	n/a
32	POLR2A	chr4:1230393-1230724	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr4:1230241-1231842	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:1230301-1230783	HepG2	liver:	n/a	n/a
35	POLR2A	chr4:1230865-1231831	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr4:1231033-1231641	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr4:1230229-1230519	K562	blood:	n/a	n/a
38	POLR2A	chr4:1230992-1231127	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr4:1230611-1230654	ProgFib	skin:	n/a	n/a
40	POLR2A	chr4:1230089-1232190	GM12892	blood:	n/a	n/a
41	POLR2A	chr4:1231593-1232174	HL-60	blood:	n/a	n/a
42	POLR2A	chr4:1231558-1234052	K562	blood:	n/a	n/a
43	POLR2A	chr4:1230283-1230663	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr4:1231692-1231765	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:1230346-1230605	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:1230058-1232262	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:1231365-1231603	HepG2	liver:	n/a	n/a
48	POLR2A	chr4:1230671-1230680	ProgFib	skin:	n/a	n/a
49	POLR2A	chr4:1230117-1232164	GM12891	blood:	n/a	n/a
50	POLR2A	chr4:1230529-1230758	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1231578..1233749-chr4:1664343..1666547,2	K562	blood:
2	chr4:976786..978609-chr4:1230405..1232762,2	K562	blood:
3	chr4:1144843..1147526-chr4:1230222..1232389,2	MCF-7	breast:
4	chr4:1230672..1232310-chr4:1283727..1285762,2	K562	blood:
5	chr4:1227874..1230921-chr4:1231910..1234082,4	MCF-7	breast:
6	chr4:1225466..1227458-chr4:1228564..1230793,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CTBP1	hsa-miR-10b-5p	chr4:1231354-1231376

Variant related genes	Relation type
CTBP1	TF binding region
ENSG00000227189	chromatin interactions
ENSG00000215367	chromatin interactions
ENSG00000159692	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201831175	chr4:1230384-1230385	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs542565686	chr4:1230388-1230389	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs367671903	chr4:1230391-1230392	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs560997219	chr4:1230460-1230461	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs528363208	chr4:1230461-1230462	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs546526985	chr4:1230462-1230463	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs55679328	chr4:1230483-1230484	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs564910644	chr4:1230503-1230504	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs532297517	chr4:1230512-1230513	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs189313732	chr4:1230518-1230519	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs550508591	chr4:1230524-1230525	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs568885456	chr4:1230544-1230545	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs374646666	chr4:1230558-1230559	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs536396035	chr4:1230572-1230573	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs548199042	chr4:1230582-1230583	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs28394801	chr4:1230588-1230589	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs13108239	chr4:1230600-1230601	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs28384148	chr4:1230623-1230624	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs13136515	chr4:1230628-1230629	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs28436831	chr4:1230629-1230630	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs13109846	chr4:1230635-1230636	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs200902053	chr4:1230636-1230637	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs60846075	chr4:1230652-1230653	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs13141866	chr4:1230658-1230659	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs13108428	chr4:1230670-1230671	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs13136728	chr4:1230672-1230673	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs535313231	chr4:1230674-1230675	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs13108447	chr4:1230698-1230699	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs371115412	chr4:1230728-1230729	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs553601039	chr4:1230738-1230739	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs556400042	chr4:1230755-1230756	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs578200176	chr4:1230760-1230761	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs539184063	chr4:1230767-1230768	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs557276158	chr4:1230773-1230774	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs575690900	chr4:1230811-1230812	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs542756153	chr4:1230830-1230831	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs560933519	chr4:1230869-1230870	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs576604389	chr4:1230877-1230878	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs118115252	chr4:1230883-1230884	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs116513771	chr4:1230902-1230903	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs369599332	chr4:1230938-1230939	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs577959669	chr4:1230947-1230948	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs79897798	chr4:1230959-1230960	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs76602977	chr4:1230960-1230961	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs532306540	chr4:1230983-1230984	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs550745655	chr4:1231007-1231008	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs562579752	chr4:1231023-1231024	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs529799021	chr4:1231036-1231037	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs548332282	chr4:1231037-1231038	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs531498684	chr4:1231058-1231059	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 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
Breast cancer	20932292	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20393555	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1204400-1235800	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr4:1204600-1236200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:1204800-1237000	Weak transcription	Psoas Muscle	Psoas
4	chr4:1211400-1235400	Weak transcription	Small Intestine	intestine
5	chr4:1211600-1235400	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:1212600-1237000	Strong transcription	Dnd41	blood
7	chr4:1214200-1235600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:1214200-1236800	Strong transcription	Primary T cells from cord blood	blood
9	chr4:1214400-1235200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:1214400-1235600	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr4:1214400-1236400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:1214400-1238400	Strong transcription	Thymus	Thymus
13	chr4:1214600-1235800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:1214600-1236200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:1215000-1235200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:1215000-1236000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr4:1215400-1236000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr4:1215800-1235600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:1216400-1235400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:1216400-1236000	Strong transcription	Fetal Thymus	thymus
21	chr4:1216600-1236000	Strong transcription	GM12878-XiMat	blood
22	chr4:1217200-1235400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:1217200-1235800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:1217600-1235200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:1218200-1234600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr4:1218800-1235400	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr4:1219000-1235400	Strong transcription	Gastric	stomach
28	chr4:1219000-1240200	Weak transcription	Hela-S3	cervix
29	chr4:1219800-1234800	Strong transcription	Fetal Intestine Large	intestine
30	chr4:1220600-1235400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:1221600-1236400	Weak transcription	Fetal Heart	heart
32	chr4:1221600-1240200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:1221800-1236400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:1222000-1240800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:1222600-1236000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:1223000-1236600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:1223200-1236800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:1223600-1234200	Strong transcription	Osteobl	bone
39	chr4:1223600-1234800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:1223800-1236200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:1224000-1235400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:1225000-1240200	Weak transcription	K562	blood
43	chr4:1225200-1230400	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr4:1225400-1230800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:1226800-1232200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:1226800-1235000	Strong transcription	Brain Substantia Nigra	brain
47	chr4:1227000-1235200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr4:1227200-1235200	Strong transcription	HepG2	liver
49	chr4:1227600-1230600	Strong transcription	Aorta	Aorta
50	chr4:1227600-1234800	Strong transcription	Colonic Mucosa	Colon

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