Variant report

Variant	esv3406160
Chromosome Location	chr4:1140152-1147350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:244)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:1144667-1144959	K562	blood:	n/a	n/a
2	CBX3	chr4:1144722-1144917	K562	blood:	n/a	n/a
3	CTCF	chr4:1140102-1140161	GM13976	blood:	n/a	n/a
4	CTCF	chr4:1140328-1140411	LNCaP	prostate:	n/a	n/a
5	CTCF	chr4:1140438-1140518	GM13976	blood:	n/a	n/a
6	ELF1	chr4:1141984-1142332	K562	blood:	n/a	chr4:1142173-1142184 chr4:1142171-1142184 chr4:1142173-1142184 chr4:1142174-1142183
7	ELK1	chr4:1142366-1142382	K562	blood:	n/a	n/a
8	EP300	chr4:1140920-1141719	GM12878	blood:	n/a	n/a
9	FOXA1	chr4:1145969-1146382	HepG2	liver:	n/a	chr4:1146175-1146190
10	FOXA1	chr4:1145973-1146392	HepG2	liver:	n/a	chr4:1146175-1146190
11	FOXA1	chr4:1145971-1146261	HepG2	liver:	n/a	chr4:1146175-1146190
12	FOXA1	chr4:1145957-1146371	HepG2	liver:	n/a	chr4:1146175-1146190
13	FOXA2	chr4:1145995-1146240	HepG2	liver:	n/a	n/a
14	KAP1	chr4:1144471-1144795	HEK293	kidney:	n/a	n/a
15	POU2F2	chr4:1140822-1141474	GM12878	blood:	n/a	n/a
16	SETDB1	chr4:1144644-1144993	U2OS	brain:	n/a	n/a
17	ZBTB33	chr4:1141119-1141636	HepG2	liver:	n/a	n/a
18	ZBTB33	chr4:1141024-1141349	GM12878	blood:	n/a	n/a
19	ZBTB33	chr4:1141236-1141566	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1140842-1140892	HEK293	kidney:	embryo
2	chr4:1144077-1144127	GM12891	blood:	n/a
3	chr4:1143738-1143788	HEEpiC	esophagus:	n/a
4	chr4:1143738-1143788	HNPCEpiC	eye:	n/a
5	chr4:1140440-1140490	HCM	heart:	n/a
6	chr4:1140440-1140490	Jurkat	blood:	n/a
7	chr4:1144077-1144127	IMR90	lung:	fetal
8	chr4:1140440-1140490	ECC-1	luminal epithelium:	n/a
9	chr4:1143738-1143788	AG04449	skin:	fetal
10	chr4:1143738-1143788	AG09319	gingival:	n/a
11	chr4:1144077-1144127	HCPEpiC	choroid plexus:	n/a
12	chr4:1140440-1140490	CMK	blood:	n/a
13	chr4:1144077-1144127	HRE	kidney:	n/a
14	chr4:1140440-1140490	GM12892	blood:	n/a
15	chr4:1140842-1140892	AG04449	skin:	fetal
16	chr4:1144077-1144127	GM12892	blood:	n/a
17	chr4:1143738-1143788	AG09309	skin:	n/a
18	chr4:1144077-1144127	NHBE	bronchial:	n/a
19	chr4:1144077-1144127	HMEC	breast:	n/a
20	chr4:1140842-1140892	NHBE	bronchial:	n/a
21	chr4:1144077-1144127	GM06990	blood:	n/a
22	chr4:1143738-1143788	HCPEpiC	choroid plexus:	n/a
23	chr4:1140440-1140490	ovcar-3	ovarian:	n/a
24	chr4:1144077-1144127	LNCaP	prostate:	n/a
25	chr4:1140842-1140892	PrEC	prostate:	n/a
26	chr4:1140842-1140892	AoSMC	blood vessel:	n/a
27	chr4:1143738-1143788	HRPEpiC	eye:	n/a
28	chr4:1140842-1140892	NHDF-neo	bronchial:	n/a
29	chr4:1140842-1140892	K562	blood:	n/a
30	chr4:1143738-1143788	HRE	kidney:	n/a
31	chr4:1140440-1140490	SKMC	muscle:	n/a
32	chr4:1140440-1140490	HUVEC	blood vessel:	n/a
33	chr4:1140842-1140892	GM12892	blood:	n/a
34	chr4:1140842-1140892	HCF	heart:	n/a
35	chr4:1143738-1143788	Hela-S3	cervix:	n/a
36	chr4:1144077-1144127	A549	lung:	n/a
37	chr4:1140440-1140490	ProgFib	skin:	n/a
38	chr4:1144077-1144127	HAEpiC	amniotic membrane:	n/a
39	chr4:1140440-1140490	SK-N-SH_RA	brain:	n/a
40	chr4:1144077-1144127	RPTEC	kidney:	n/a
41	chr4:1144077-1144127	CMK	blood:	n/a
42	chr4:1143738-1143788	HMEC	breast:	n/a
43	chr4:1140842-1140892	NH-A	brain:	n/a
44	chr4:1140440-1140490	Caco-2	colon:	n/a
45	chr4:1140440-1140490	HCT-116	colon:	n/a
46	chr4:1140440-1140490	AG04449	skin:	fetal
47	chr4:1143738-1143788	AG04450	lung:	fetal
48	chr4:1140440-1140490	NHDF-neo	bronchial:	n/a
49	chr4:1144077-1144127	PrEC	prostate:	n/a
50	chr4:1144077-1144127	HRCEpiC	kidney:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1142209..1146106-chr4:1146804..1150062,3	K562	blood:
2	chr4:1146501..1148469-chr4:1159921..1162668,2	MCF-7	breast:
3	chr4:1142209..1146106-chr4:1146804..1150062,3	K562	blood:
4	chr4:1142514..1145503-chr4:1240960..1243114,2	K562	blood:
5	chr4:1145908..1147956-chr4:1241044..1242592,2	MCF-7	breast:
6	chr4:1141428..1143123-chr4:1294682..1297303,2	K562	blood:
7	chr4:1142209..1145011-chr4:1146072..1149745,6	K562	blood:
8	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
ENSG00000273179	chromatin interactions
ENSG00000196810	chromatin interactions
ENSG00000227189	chromatin interactions

Extended variants
information (count: 426 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113223092	chr4:1140152-1140153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550146556	chr4:1140159-1140160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530886727	chr4:1140168-1140169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111766371	chr4:1140174-1140175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568220654	chr4:1140199-1140200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375592175	chr4:1140200-1140201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367613012	chr4:1140218-1140219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572119318	chr4:1140240-1140241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544689572	chr4:1140247-1140248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539191194	chr4:1140248-1140249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557711476	chr4:1140263-1140264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575676996	chr4:1140284-1140285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138096941	chr4:1140288-1140289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562854277	chr4:1140306-1140307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574647931	chr4:1140319-1140320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542041358	chr4:1140351-1140352	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs34977421	chr4:1140366-1140367	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs527771380	chr4:1140374-1140375	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs368119192	chr4:1140376-1140377	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs564502309	chr4:1140377-1140378	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531746263	chr4:1140378-1140379	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs550053030	chr4:1140380-1140381	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs71602726	chr4:1140387-1140388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369044650	chr4:1140396-1140397	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs373322423	chr4:1140405-1140406	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs35637542	chr4:1140414-1140415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs71604359	chr4:1140418-1140419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71604360	chr4:1140422-1140423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71604361	chr4:1140432-1140433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71604362	chr4:1140435-1140436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547552837	chr4:1140437-1140438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565763221	chr4:1140438-1140439	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs539514279	chr4:1140440-1140441	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs557606503	chr4:1140441-1140442	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs71604363	chr4:1140444-1140445	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs575594931	chr4:1140463-1140464	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs375620868	chr4:1140464-1140465	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs71602727	chr4:1140466-1140467	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs373354771	chr4:1140489-1140490	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs574810591	chr4:1140496-1140497	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs542194475	chr4:1140503-1140504	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs533530525	chr4:1140509-1140510	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs79618317	chr4:1140511-1140512	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs368833102	chr4:1140528-1140529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189413033	chr4:1140530-1140531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146213255	chr4:1140531-1140532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555466008	chr4:1140556-1140557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543851299	chr4:1140557-1140558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562097378	chr4:1140566-1140567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191258949	chr4:1140579-1140580	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:28 , 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
9	chr4:1144800-1145000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
10	chr4:1145000-1148200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:1145200-1146000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:1145400-1146200	Flanking Active TSS	Pancreas	Pancrea
13	chr4:1145400-1146600	Enhancers	Fetal Muscle Leg	muscle
14	chr4:1145600-1146400	Enhancers	Gastric	stomach
15	chr4:1145800-1146000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:1145800-1146200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:1145800-1146400	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr4:1145800-1146400	Bivalent Enhancer	HepG2	liver
19	chr4:1145800-1148600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:1146000-1146800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr4:1146200-1148400	Active TSS	Pancreas	Pancrea
22	chr4:1146400-1146600	Enhancers	Stomach Mucosa	stomach
23	chr4:1146400-1146800	Weak transcription	Gastric	stomach
24	chr4:1146600-1160800	Weak transcription	Ovary	ovary
25	chr4:1146800-1147000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr4:1146800-1147000	Enhancers	Gastric	stomach
27	chr4:1147000-1147400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:1147000-1148400	Weak transcription	Gastric	stomach

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