Variant report

Variant	nsv437449
Chromosome Location	chr4:158727739-158732576
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	chr4:158731196-158731670	HepG2	liver:	n/a	n/a
4	EP300	chr4:158731290-158731665	HepG2	liver:	n/a	n/a
5	FOS	chr4:158731377-158731611	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr4:158731355-158731572	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr4:158730310-158730589	HUVEC	blood vessel:	n/a	chr4:158730426-158730437 chr4:158730428-158730437
8	FOS	chr4:158730312-158730453	MCF10A-Er-Src	breast:	n/a	chr4:158730426-158730437 chr4:158730428-158730437
9	FOXA1	chr4:158731174-158732022	HepG2	liver:	n/a	n/a
10	FOXA1	chr4:158731156-158731955	HepG2	liver:	n/a	n/a
11	FOXA1	chr4:158731139-158732019	HepG2	liver:	n/a	n/a
12	FOXA1	chr4:158731147-158731737	HepG2	liver:	n/a	n/a
13	FOXA2	chr4:158730966-158731915	HepG2	liver:	n/a	n/a
14	FOXA2	chr4:158731247-158731696	HepG2	liver:	n/a	n/a
15	HDAC2	chr4:158731242-158731697	HepG2	liver:	n/a	n/a
16	HDAC2	chr4:158731237-158731724	HepG2	liver:	n/a	n/a
17	HNF4A	chr4:158731326-158731790	HepG2	liver:	n/a	n/a
18	HNF4A	chr4:158731334-158731728	HepG2	liver:	n/a	n/a
19	HNF4G	chr4:158731280-158731735	HepG2	liver:	n/a	n/a
20	HNF4G	chr4:158731242-158731720	HepG2	liver:	n/a	n/a
21	JUND	chr4:158731254-158731727	HepG2	liver:	n/a	n/a
22	MAFF	chr4:158731423-158731659	HepG2	liver:	n/a	n/a
23	MAFK	chr4:158731341-158731719	HepG2	liver:	n/a	n/a
24	MYBL2	chr4:158731035-158731841	HepG2	liver:	n/a	n/a
25	MYC	chr4:158731328-158731337	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr4:158731275-158731575	MCF10A-Er-Src	breast:	n/a	n/a
27	NFIC	chr4:158731085-158731891	HepG2	liver:	n/a	n/a
28	NFIC	chr4:158731227-158731737	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:158731225-158731466	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr4:158732040-158732146	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr4:158731238-158731265	MCF10A-Er-Src	breast:	n/a	n/a
32	RAD21	chr4:158731266-158731565	HepG2	liver:	n/a	n/a
33	RAD21	chr4:158731242-158731681	HepG2	liver:	n/a	n/a
34	RAD21	chr4:158724385-158727748	SK-N-SH	brain:	n/a	chr4:158726321-158726335
35	RCOR1	chr4:158731297-158731762	HepG2	liver:	n/a	n/a
36	RXRA	chr4:158731270-158731690	HepG2	liver:	n/a	n/a
37	SP1	chr4:158731188-158731775	HepG2	liver:	n/a	n/a
38	STAT3	chr4:158731387-158731627	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr4:158730299-158730445	MCF10A-Er-Src	breast:	n/a	chr4:158730363-158730370 chr4:158730339-158730347 chr4:158730401-158730412
40	TBP	chr4:158731317-158731733	HepG2	liver:	n/a	n/a
41	TCF7L2	chr4:158731259-158731790	HepG2	liver:	n/a	n/a
42	TEAD4	chr4:158731128-158731788	HepG2	liver:	n/a	n/a
43	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: 170 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs1448439	chr4:158727739-158727740	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561132426	chr4:158727753-158727754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574838080	chr4:158727771-158727772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183973041	chr4:158727816-158727817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560258109	chr4:158727826-158727827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188696198	chr4:158727834-158727835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79381527	chr4:158727897-158727898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7671381	chr4:158727948-158727949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs13133577	chr4:158728010-158728011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531932231	chr4:158728110-158728111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10004462	chr4:158728130-158728131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140954795	chr4:158728139-158728140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114476868	chr4:158728149-158728150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150196919	chr4:158728168-158728169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560380071	chr4:158728238-158728239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199499675	chr4:158728241-158728242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538803610	chr4:158728276-158728277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558812028	chr4:158728307-158728308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10027160	chr4:158728337-158728338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116101379	chr4:158728365-158728366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554891800	chr4:158728372-158728373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181223413	chr4:158728437-158728438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540648046	chr4:158728460-158728461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576470794	chr4:158728480-158728481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139318847	chr4:158728481-158728482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576938004	chr4:158728487-158728488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186766666	chr4:158728529-158728530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10027478	chr4:158728539-158728540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10517675	chr4:158728552-158728553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542149390	chr4:158728559-158728560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562433947	chr4:158728581-158728582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529642319	chr4:158728598-158728599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78193893	chr4:158728610-158728611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566546750	chr4:158728620-158728621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73860150	chr4:158728646-158728647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552362540	chr4:158728726-158728727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568952269	chr4:158728738-158728739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538087694	chr4:158728766-158728767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376274190	chr4:158728804-158728805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554543325	chr4:158728830-158728831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568376010	chr4:158728835-158728836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533904750	chr4:158728876-158728877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529101322	chr4:158728883-158728884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147077965	chr4:158728909-158728910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191674713	chr4:158728940-158728941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182246412	chr4:158728991-158728992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187353012	chr4:158729019-158729020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs33990546	chr4:158729029-158729030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201698872	chr4:158729039-158729040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200498289	chr4:158729043-158729044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 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	chr4:158726200-158728000	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:158726800-158727800	Enhancers	Brain Germinal Matrix	brain
6	chr4:158727000-158731000	Weak transcription	Fetal Intestine Large	intestine
7	chr4:158727000-158731400	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:158727200-158727800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:158727200-158730200	Weak transcription	HepG2	liver
10	chr4:158727600-158727800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr4:158727800-158728400	Weak transcription	Brain Germinal Matrix	brain
12	chr4:158728000-158730200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:158728400-158728600	Enhancers	Brain Germinal Matrix	brain
14	chr4:158729600-158730400	Enhancers	Pancreas	Pancrea
15	chr4:158729800-158730400	Enhancers	HUVEC	blood vessel
16	chr4:158730200-158731400	Enhancers	Rectal Smooth Muscle	rectum
17	chr4:158730200-158732800	Enhancers	HepG2	liver
18	chr4:158730800-158731000	Enhancers	Stomach Mucosa	stomach
19	chr4:158731000-158732000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:158731000-158732000	Enhancers	Fetal Intestine Small	intestine
21	chr4:158731000-158732000	Weak transcription	Stomach Mucosa	stomach
22	chr4:158731000-158732200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:158731000-158732200	Enhancers	Fetal Intestine Large	intestine
24	chr4:158731000-158732200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:158731200-158731600	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:158731200-158731800	Enhancers	Liver	Liver
27	chr4:158731200-158732000	Enhancers	Stomach Smooth Muscle	stomach
28	chr4:158731200-158732000	Enhancers	HMEC	breast
29	chr4:158731400-158732000	Enhancers	Colon Smooth Muscle	Colon
30	chr4:158731600-158731800	Enhancers	Small Intestine	intestine
31	chr4:158732000-158732400	Enhancers	Stomach Mucosa	stomach
32	chr4:158732000-158736800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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