Variant report

Variant	esv3354016
Chromosome Location	chr4:1139652-1144050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:305)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:1140438-1140518	GM13976	blood:	n/a	n/a
2	CTCF	chr4:1140328-1140411	LNCaP	prostate:	n/a	n/a
3	CTCF	chr4:1140101-1140128	GM10266	blood:	n/a	n/a
4	CTCF	chr4:1140102-1140161	GM13976	blood:	n/a	n/a
5	ELF1	chr4:1141984-1142332	K562	blood:	n/a	chr4:1142173-1142184 chr4:1142171-1142184 chr4:1142173-1142184 chr4:1142174-1142183
6	ELK1	chr4:1142366-1142382	K562	blood:	n/a	n/a
7	EP300	chr4:1140920-1141719	GM12878	blood:	n/a	n/a
8	POU2F2	chr4:1140822-1141474	GM12878	blood:	n/a	n/a
9	ZBTB33	chr4:1141236-1141566	GM12878	blood:	n/a	n/a
10	ZBTB33	chr4:1141024-1141349	GM12878	blood:	n/a	n/a
11	ZBTB33	chr4:1141119-1141636	HepG2	liver:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1139955-1140005	H1-hESC	embryonic stem cell:	embryo
2	chr4:1140842-1140892	HEK293	kidney:	embryo
3	chr4:1140842-1140892	HUVEC	blood vessel:	n/a
4	chr4:1143738-1143788	GM12878	blood:	n/a
5	chr4:1140440-1140490	SAEC	small airway:	n/a
6	chr4:1139955-1140005	AG10803	skin:	n/a
7	chr4:1143738-1143788	NB4	blood:	n/a
8	chr4:1143738-1143788	CMK	blood:	n/a
9	chr4:1139656-1139706	HRPEpiC	eye:	n/a
10	chr4:1143738-1143788	HCF	heart:	n/a
11	chr4:1140440-1140490	HRCEpiC	kidney:	n/a
12	chr4:1139656-1139706	SK-N-SH_RA	brain:	n/a
13	chr4:1139656-1139706	HNPCEpiC	eye:	n/a
14	chr4:1140842-1140892	AG04450	lung:	fetal
15	chr4:1139955-1140005	PFSK-1	brain:	n/a
16	chr4:1140440-1140490	AG10803	skin:	n/a
17	chr4:1139656-1139706	GM19239	blood:	n/a
18	chr4:1139955-1140005	HRPEpiC	eye:	n/a
19	chr4:1140440-1140490	Jurkat	blood:	n/a
20	chr4:1143738-1143788	AG04450	lung:	fetal
21	chr4:1140440-1140490	HRPEpiC	eye:	n/a
22	chr4:1140440-1140490	K562	blood:	n/a
23	chr4:1143738-1143788	AG10803	skin:	n/a
24	chr4:1139955-1140005	ECC-1	luminal epithelium:	n/a
25	chr4:1140440-1140490	IMR90	lung:	fetal
26	chr4:1140842-1140892	HCT-116	colon:	n/a
27	chr4:1143738-1143788	U87	brain:	n/a
28	chr4:1139955-1140005	ProgFib	skin:	n/a
29	chr4:1140440-1140490	HCT-116	colon:	n/a
30	chr4:1143738-1143788	HIPEpiC	eye:	n/a
31	chr4:1139656-1139706	HepG2	liver:	n/a
32	chr4:1140842-1140892	HCM	heart:	n/a
33	chr4:1140440-1140490	CMK	blood:	n/a
34	chr4:1139656-1139706	A549	lung:	n/a
35	chr4:1140440-1140490	T-47D	breast:	n/a
36	chr4:1140842-1140892	NHBE	bronchial:	n/a
37	chr4:1140440-1140490	SK-N-SH	brain:	n/a
38	chr4:1139955-1140005	SK-N-SH_RA	brain:	n/a
39	chr4:1139656-1139706	HEK293	kidney:	embryo
40	chr4:1140842-1140892	H1-hESC	embryonic stem cell:	embryo
41	chr4:1140842-1140892	Jurkat	blood:	n/a
42	chr4:1143738-1143788	HEK293	kidney:	embryo
43	chr4:1140440-1140490	SKMC	muscle:	n/a
44	chr4:1139955-1140005	SK-N-SH	brain:	n/a
45	chr4:1140842-1140892	NH-A	brain:	n/a
46	chr4:1143738-1143788	K562	blood:	n/a
47	chr4:1140440-1140490	PrEC	prostate:	n/a
48	chr4:1143738-1143788	HRPEpiC	eye:	n/a
49	chr4:1139955-1140005	PrEC	prostate:	n/a
50	chr4:1143738-1143788	HRCEpiC	kidney:	n/a

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

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

No data

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

Extended variants
information (count: 325 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377497163	chr4:1139661-1139662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71604365	chr4:1139678-1139679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201441764	chr4:1139706-1139707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550775717	chr4:1139714-1139715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71604366	chr4:1139730-1139731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569140804	chr4:1139742-1139743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370028408	chr4:1139750-1139751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530109037	chr4:1139756-1139757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548325314	chr4:1139775-1139776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566745197	chr4:1139803-1139804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373036586	chr4:1139805-1139806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534210909	chr4:1139817-1139818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545611174	chr4:1139820-1139821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570747982	chr4:1139825-1139826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538006130	chr4:1139849-1139850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556379174	chr4:1139850-1139851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71604369	chr4:1139866-1139867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541936109	chr4:1139875-1139876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376072125	chr4:1139888-1139889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370186917	chr4:1139907-1139908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553913684	chr4:1139911-1139912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569584584	chr4:1139921-1139922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372708659	chr4:1139922-1139923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375974336	chr4:1139934-1139935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75621557	chr4:1139956-1139957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35004357	chr4:1139962-1139963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199501383	chr4:1139978-1139979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544528942	chr4:1139982-1139983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374391711	chr4:1139997-1139998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140605582	chr4:1140028-1140029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548239007	chr4:1140064-1140065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560640941	chr4:1140068-1140069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527659139	chr4:1140086-1140087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371179715	chr4:1140129-1140130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552557769	chr4:1140132-1140133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570792534	chr4:1140136-1140137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538116707	chr4:1140141-1140142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113223092	chr4:1140152-1140153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550146556	chr4:1140159-1140160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530886727	chr4:1140168-1140169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111766371	chr4:1140174-1140175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568220654	chr4:1140199-1140200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375592175	chr4:1140200-1140201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367613012	chr4:1140218-1140219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572119318	chr4:1140240-1140241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544689572	chr4:1140247-1140248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539191194	chr4:1140248-1140249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557711476	chr4:1140263-1140264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575676996	chr4:1140284-1140285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138096941	chr4:1140288-1140289	Weak transcription	n/a	n/a	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:8 , 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
3	chr4:1143600-1145200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:1143600-1145400	Enhancers	Pancreas	Pancrea
5	chr4:1143800-1146200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr4:1144000-1144200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:1144000-1144400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:1144000-1145400	ZNF genes & repeats	Fetal Stomach	stomach

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