Variant report

Variant	esv2559309
Chromosome Location	chr4:1140585-1142515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr4:1141984-1142332	K562	blood:	n/a	chr4:1142173-1142184 chr4:1142171-1142184 chr4:1142173-1142184 chr4:1142174-1142183
2	ELK1	chr4:1142366-1142382	K562	blood:	n/a	n/a
3	EP300	chr4:1140920-1141719	GM12878	blood:	n/a	n/a
4	POU2F2	chr4:1140822-1141474	GM12878	blood:	n/a	n/a
5	ZBTB33	chr4:1141236-1141566	GM12878	blood:	n/a	n/a
6	ZBTB33	chr4:1141024-1141349	GM12878	blood:	n/a	n/a
7	ZBTB33	chr4:1141119-1141636	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1140842-1140892	A549	lung:	n/a
2	chr4:1140842-1140892	AoSMC	blood vessel:	n/a
3	chr4:1140842-1140892	PANC-1	pancreas:	n/a
4	chr4:1140842-1140892	PrEC	prostate:	n/a
5	chr4:1140842-1140892	PFSK-1	brain:	n/a
6	chr4:1140842-1140892	K562	blood:	n/a
7	chr4:1140842-1140892	HRCEpiC	kidney:	n/a
8	chr4:1140842-1140892	U87	brain:	n/a
9	chr4:1140842-1140892	RPTEC	kidney:	n/a
10	chr4:1140842-1140892	SKMC	muscle:	n/a
11	chr4:1140842-1140892	GM12892	blood:	n/a
12	chr4:1140842-1140892	HepG2	liver:	n/a
13	chr4:1140842-1140892	MCF-7	breast:	n/a
14	chr4:1140842-1140892	AG09309	skin:	n/a
15	chr4:1140842-1140892	ProgFib	skin:	n/a
16	chr4:1140842-1140892	H1-hESC	embryonic stem cell:	embryo
17	chr4:1140842-1140892	HAEpiC	amniotic membrane:	n/a
18	chr4:1140842-1140892	BE2_C	brain:	n/a
19	chr4:1140842-1140892	GM12878	blood:	n/a
20	chr4:1140842-1140892	GM19239	blood:	n/a
21	chr4:1140842-1140892	Caco-2	colon:	n/a
22	chr4:1140842-1140892	HNPCEpiC	eye:	n/a
23	chr4:1140842-1140892	HL-60	blood:	n/a
24	chr4:1140842-1140892	NHDF-neo	bronchial:	n/a
25	chr4:1140842-1140892	SK-N-SH_RA	brain:	n/a
26	chr4:1140842-1140892	HUVEC	blood vessel:	n/a
27	chr4:1140842-1140892	CMK	blood:	n/a
28	chr4:1140842-1140892	SK-N-MC	brain:	n/a
29	chr4:1140842-1140892	NT2-D1	testis:	n/a
30	chr4:1140842-1140892	ECC-1	luminal epithelium:	n/a
31	chr4:1140842-1140892	AG09319	gingival:	n/a
32	chr4:1140842-1140892	ovcar-3	ovarian:	n/a
33	chr4:1140842-1140892	IMR90	lung:	fetal
34	chr4:1140842-1140892	HCPEpiC	choroid plexus:	n/a
35	chr4:1140842-1140892	HRPEpiC	eye:	n/a
36	chr4:1140842-1140892	GM12891	blood:	n/a
37	chr4:1140842-1140892	HEK293	kidney:	embryo
38	chr4:1140842-1140892	Hepatocyte	liver:	n/a
39	chr4:1140842-1140892	MCF10A-Er-Src	breast:	n/a
40	chr4:1140842-1140892	SK-N-SH	brain:	n/a
41	chr4:1140842-1140892	BJ	skin:	n/a
42	chr4:1140842-1140892	HCF	heart:	n/a
43	chr4:1140842-1140892	HCM	heart:	n/a
44	chr4:1140842-1140892	AG10803	skin:	n/a
45	chr4:1140842-1140892	AG04450	lung:	fetal
46	chr4:1140842-1140892	HPAEpiC	pulmonary alveolar:	n/a
47	chr4:1140842-1140892	HMEC	breast:	n/a
48	chr4:1140842-1140892	NHBE	bronchial:	n/a
49	chr4:1140842-1140892	NH-A	brain:	n/a
50	chr4:1140842-1140892	Hela-S3	cervix:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1141428..1143123-chr4:1294682..1297303,2	K562	blood:
2	chr4:1142209..1146106-chr4:1146804..1150062,3	K562	blood:
3	chr4:1142514..1145503-chr4:1240960..1243114,2	K562	blood:
4	chr4:1142209..1145011-chr4:1146072..1149745,6	K562	blood:
5	chr4:1140835..1142928-chr4:1295803..1297781,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227189	TF binding region
ENSG00000227189	CpG island
ENSG00000215367	chromatin interactions
ENSG00000159692	chromatin interactions
ENSG00000196810	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:167 , 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	rs567681942	chr4:1140594-1140595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547419318	chr4:1140602-1140603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565855687	chr4:1140604-1140605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537939108	chr4:1140605-1140606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532993592	chr4:1140609-1140610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551411535	chr4:1140616-1140617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189333190	chr4:1140617-1140618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182033632	chr4:1140618-1140619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201670923	chr4:1140620-1140621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370531559	chr4:1140642-1140643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569436397	chr4:1140643-1140644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368614015	chr4:1140644-1140645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4974631	chr4:1140646-1140647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371184088	chr4:1140647-1140648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373740851	chr4:1140649-1140650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199592767	chr4:1140654-1140655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367573322	chr4:1140655-1140656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371712461	chr4:1140660-1140661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186888046	chr4:1140662-1140663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536142908	chr4:1140665-1140666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556588847	chr4:1140670-1140671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554209950	chr4:1140681-1140682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572553432	chr4:1140688-1140689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546101758	chr4:1140694-1140695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376668418	chr4:1140707-1140708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371272217	chr4:1140711-1140712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112718720	chr4:1140733-1140734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558247957	chr4:1140734-1140735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374429033	chr4:1140752-1140753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113376867	chr4:1140753-1140754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190187156	chr4:1140755-1140756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112116213	chr4:1140756-1140757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564582209	chr4:1140757-1140758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181305410	chr4:1140778-1140779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529308883	chr4:1140780-1140781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577739204	chr4:1140781-1140782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541277173	chr4:1140797-1140798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142517712	chr4:1140798-1140799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533124375	chr4:1140800-1140801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551304494	chr4:1140826-1140827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs569551351	chr4:1140856-1140857	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs370260512	chr4:1140865-1140866	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs530501216	chr4:1140868-1140869	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs545547495	chr4:1140869-1140870	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs4974632	chr4:1140871-1140872	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs71604373	chr4:1140872-1140873	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs557539466	chr4:1140880-1140881	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs71604374	chr4:1140884-1140885	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs71604370	chr4:1140889-1140890	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs367915438	chr4:1140891-1140892	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1124800-1149600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:1142200-1142400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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