Variant report

Variant	esv2421450
Chromosome Location	chr4:158729437-158731374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:158731106-158731793	HepG2	liver:	n/a	n/a
2	EP300	chr4:158731167-158731741	HepG2	liver:	n/a	n/a
3	EP300	chr4:158731290-158731665	HepG2	liver:	n/a	n/a
4	EP300	chr4:158731196-158731670	HepG2	liver:	n/a	n/a
5	FOS	chr4:158731355-158731572	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr4:158730312-158730453	MCF10A-Er-Src	breast:	n/a	chr4:158730426-158730437 chr4:158730428-158730437
7	FOS	chr4:158730310-158730589	HUVEC	blood vessel:	n/a	chr4:158730426-158730437 chr4:158730428-158730437
8	FOXA1	chr4:158731156-158731955	HepG2	liver:	n/a	n/a
9	FOXA1	chr4:158731147-158731737	HepG2	liver:	n/a	n/a
10	FOXA1	chr4:158731174-158732022	HepG2	liver:	n/a	n/a
11	FOXA1	chr4:158731139-158732019	HepG2	liver:	n/a	n/a
12	FOXA2	chr4:158731247-158731696	HepG2	liver:	n/a	n/a
13	FOXA2	chr4:158730966-158731915	HepG2	liver:	n/a	n/a
14	HDAC2	chr4:158731237-158731724	HepG2	liver:	n/a	n/a
15	HDAC2	chr4:158731242-158731697	HepG2	liver:	n/a	n/a
16	HNF4A	chr4:158731326-158731790	HepG2	liver:	n/a	n/a
17	HNF4A	chr4:158731334-158731728	HepG2	liver:	n/a	n/a
18	HNF4G	chr4:158731242-158731720	HepG2	liver:	n/a	n/a
19	HNF4G	chr4:158731280-158731735	HepG2	liver:	n/a	n/a
20	JUND	chr4:158731254-158731727	HepG2	liver:	n/a	n/a
21	MAFK	chr4:158731341-158731719	HepG2	liver:	n/a	n/a
22	MYBL2	chr4:158731035-158731841	HepG2	liver:	n/a	n/a
23	MYC	chr4:158731275-158731575	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr4:158731328-158731337	MCF10A-Er-Src	breast:	n/a	n/a
25	NFIC	chr4:158731085-158731891	HepG2	liver:	n/a	n/a
26	NFIC	chr4:158731227-158731737	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:158731238-158731265	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr4:158731225-158731466	MCF10A-Er-Src	breast:	n/a	n/a
29	RAD21	chr4:158731266-158731565	HepG2	liver:	n/a	n/a
30	RAD21	chr4:158731242-158731681	HepG2	liver:	n/a	n/a
31	RCOR1	chr4:158731297-158731762	HepG2	liver:	n/a	n/a
32	RXRA	chr4:158731270-158731690	HepG2	liver:	n/a	n/a
33	SP1	chr4:158731188-158731775	HepG2	liver:	n/a	n/a
34	STAT3	chr4:158730299-158730445	MCF10A-Er-Src	breast:	n/a	chr4:158730363-158730370 chr4:158730339-158730347 chr4:158730401-158730412
35	TBP	chr4:158731317-158731733	HepG2	liver:	n/a	n/a
36	TCF7L2	chr4:158731259-158731790	HepG2	liver:	n/a	n/a
37	TEAD4	chr4:158731128-158731788	HepG2	liver:	n/a	n/a
38	ZEB1	chr4:158731182-158731792	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:158730340..158733222-chr4:158735249..158736822,2	K562	blood:

Variant related genes	Relation type
ENSG00000249627	TF binding region
ENSG00000249627	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570502824	chr4:158729515-158729516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10517676	chr4:158729559-158729560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527312182	chr4:158729572-158729573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114300637	chr4:158729636-158729637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560033573	chr4:158729739-158729740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77512781	chr4:158729747-158729748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183014519	chr4:158729748-158729749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116786567	chr4:158729777-158729778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374473770	chr4:158729783-158729784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188560771	chr4:158729805-158729806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7662544	chr4:158729867-158729868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs138506032	chr4:158729887-158729888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149270909	chr4:158729892-158729893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562407921	chr4:158729909-158729910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144510967	chr4:158729916-158729917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7662735	chr4:158729944-158729945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs116051002	chr4:158729998-158729999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527523130	chr4:158730031-158730032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535838182	chr4:158730048-158730049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547286928	chr4:158730075-158730076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570447671	chr4:158730111-158730112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539413740	chr4:158730162-158730163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10517677	chr4:158730180-158730181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs80292261	chr4:158730224-158730225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535955336	chr4:158730249-158730250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148399279	chr4:158730296-158730297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572675779	chr4:158730401-158730402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141612306	chr4:158730414-158730415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145946937	chr4:158730428-158730429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79817620	chr4:158730459-158730460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552106625	chr4:158730465-158730466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556126265	chr4:158730496-158730497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10517678	chr4:158730527-158730528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543873063	chr4:158730535-158730536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541898663	chr4:158730571-158730572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561678397	chr4:158730586-158730587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs527461733	chr4:158730589-158730590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13149222	chr4:158730591-158730592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537910103	chr4:158730606-158730607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375855910	chr4:158730610-158730611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7680315	chr4:158730619-158730620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs371016351	chr4:158730624-158730625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143522585	chr4:158730698-158730699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554556140	chr4:158730721-158730722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146724478	chr4:158730727-158730728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549868610	chr4:158730793-158730794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13150049	chr4:158730857-158730858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537151301	chr4:158730867-158730868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549437910	chr4:158730911-158730912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566209789	chr4:158730912-158730913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158724800-158734400	Weak transcription	Aorta	Aorta
2	chr4:158725600-158731000	Weak transcription	Fetal Intestine Small	intestine
3	chr4:158725800-158731200	Weak transcription	Liver	Liver
4	chr4:158727000-158731000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:158727000-158731400	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:158727200-158730200	Weak transcription	HepG2	liver
7	chr4:158728000-158730200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:158729600-158730400	Enhancers	Pancreas	Pancrea
9	chr4:158729800-158730400	Enhancers	HUVEC	blood vessel
10	chr4:158730200-158731400	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:158730200-158732800	Enhancers	HepG2	liver
12	chr4:158730800-158731000	Enhancers	Stomach Mucosa	stomach
13	chr4:158731000-158732000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:158731000-158732000	Enhancers	Fetal Intestine Small	intestine
15	chr4:158731000-158732000	Weak transcription	Stomach Mucosa	stomach
16	chr4:158731000-158732200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:158731000-158732200	Enhancers	Fetal Intestine Large	intestine
18	chr4:158731000-158732200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr4:158731200-158731600	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:158731200-158731800	Enhancers	Liver	Liver
21	chr4:158731200-158732000	Enhancers	Stomach Smooth Muscle	stomach
22	chr4:158731200-158732000	Enhancers	HMEC	breast

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