Variant report

Variant	nsv1014961
Chromosome Location	chr4:70171280-70278437
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	chr4:70274315-70274516	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:70210667-70210694	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:70254846-70255212	HepG2	liver:	n/a	n/a
4	ATF1	chr4:70175307-70175700	K562	blood:	n/a	n/a
5	ATF1	chr4:70187845-70188142	K562	blood:	n/a	n/a
6	BHLHE40	chr4:70209675-70209715	K562	blood:	n/a	n/a
7	CBX3	chr4:70175213-70175493	K562	blood:	n/a	n/a
8	CEBPB	chr4:70254941-70255152	HepG2	liver:	n/a	n/a
9	CEBPB	chr4:70276530-70276708	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:70209480-70209728	K562	blood:	n/a	n/a
11	CEBPB	chr4:70211562-70211766	HepG2	liver:	n/a	chr4:70211703-70211714
12	CEBPB	chr4:70226229-70226403	HepG2	liver:	n/a	chr4:70226280-70226289 chr4:70226280-70226291
13	CEBPB	chr4:70221057-70221267	HepG2	liver:	n/a	n/a
14	CTCF	chr4:70183740-70183890	HRPEpiC	eye:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
15	CTCF	chr4:70201320-70201470	GM12874	blood:	n/a	n/a
16	CTCF	chr4:70201360-70201510	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr4:70183720-70183870	HPAF	blood vessel:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
18	CTCF	chr4:70183685-70183922	GM13977	blood:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
19	CTCF	chr4:70189152-70189304	HepG2	liver:	n/a	n/a
20	CTCF	chr4:70183600-70183750	HAc	cerebellar:	n/a	n/a
21	CTCF	chr4:70243413-70243568	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:70201335-70201473	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr4:70183960-70184110	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr4:70201320-70201470	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr4:70187137-70187165	MCF-7	breast:	n/a	n/a
26	CTCF	chr4:70201320-70201470	HMEC	breast:	n/a	n/a
27	CTCF	chr4:70189160-70189310	MCF-7	breast:	n/a	n/a
28	CTCF	chr4:70189152-70189251	MCF-7	breast:	n/a	n/a
29	CTCF	chr4:70189160-70189310	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr4:70189200-70189350	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr4:70183680-70183830	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr4:70183740-70183890	HA-sp	spinal cord:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
33	CTCF	chr4:70189180-70189330	K562	blood:	n/a	n/a
34	CTCF	chr4:70183659-70183902	MCF-7	breast:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
35	CTCF	chr4:70183582-70184070	MCF-7	breast:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
36	CTCF	chr4:70201208-70201526	A549	lung:	n/a	n/a
37	CTCF	chr4:70189180-70189330	GM12869	blood:	n/a	n/a
38	CTCF	chr4:70201380-70201530	HAc	cerebellar:	n/a	n/a
39	CTCF	chr4:70189200-70189350	NHEK	skin:	n/a	n/a
40	CTCF	chr4:70262136-70262241	GM13977	blood:	n/a	n/a
41	CTCF	chr4:70201334-70201482	MCF-7	breast:	n/a	n/a
42	CTCF	chr4:70183929-70183931	GM10266	blood:	n/a	n/a
43	CTCF	chr4:70183672-70183943	H1-hESC	embryonic stem cell:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
44	CTCF	chr4:70189218-70189227	GM12878	blood:	n/a	n/a
45	CTCF	chr4:70243393-70243566	MCF-7	breast:	n/a	n/a
46	CTCF	chr4:70201300-70201450	A549	lung:	n/a	n/a
47	CTCF	chr4:70243460-70243610	MCF-7	breast:	n/a	n/a
48	CTCF	chr4:70201301-70201496	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr4:70270027-70270128	GM13976	blood:	n/a	n/a
50	CTCF	chr4:70209564-70209651	Spleen_OC	spleen:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:70183605..70184238-chr4:70482598..70483352,3	MCF-7	breast:
2	chr4:70262708..70264895-chr4:70280098..70283006,2	K562	blood:
3	chr4:70188461..70190645-chr4:70191525..70193153,2	K562	blood:
4	chr4:70188461..70190645-chr4:70191525..70193153,2	K562	blood:
5	chr4:70183340..70184245-chr4:70482427..70483057,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B28-4	chr4:70253298-70254025	NONHSAT096763
2	lnc-UGT2B28-5	chr4:70272649-70273373	NONHSAT096764

Variant related genes	Relation type
ENSG00000251691	TF binding region
ENSG00000248824	TF binding region
ENSG00000268209	TF binding region
ENSG00000215110	TF binding region
ENSG00000249956	TF binding region
ENSG00000250612	TF binding region

Extended variants
information (count: 1436 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1436 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559940965	chr4:70172913-70172914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370052814	chr4:70172931-70172932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528565017	chr4:70172934-70172935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs533577563	chr4:70174048-70174049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553598910	chr4:70174069-70174070	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs573495525	chr4:70174070-70174071	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542421882	chr4:70174078-70174079	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs189984624	chr4:70174085-70174086	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575799569	chr4:70174097-70174098	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs182163568	chr4:70174144-70174145	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564426985	chr4:70174194-70174195	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs533331477	chr4:70174260-70174261	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs535310102	chr4:70174280-70174281	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540284187	chr4:70174290-70174291	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560379348	chr4:70174311-70174312	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs184379250	chr4:70174326-70174327	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs548762745	chr4:70174333-70174334	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs548744224	chr4:70174343-70174344	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531410151	chr4:70174344-70174345	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs551407141	chr4:70174404-70174405	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs571273829	chr4:70174411-70174412	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372628588	chr4:70174458-70174459	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533768764	chr4:70174459-70174460	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374974334	chr4:70174463-70174464	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs567151921	chr4:70174492-70174493	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs536195441	chr4:70174511-70174512	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189145841	chr4:70174517-70174518	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs575860840	chr4:70174534-70174535	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs201866716	chr4:70174570-70174571	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs62308806	chr4:70174571-70174572	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201214477	chr4:70174574-70174575	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs181953416	chr4:70174622-70174623	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs184948525	chr4:70174642-70174643	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs199820333	chr4:70174722-70174723	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs540599103	chr4:70174730-70174731	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs13126195	chr4:70174776-70174777	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs13126196	chr4:70174779-70174780	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs560329811	chr4:70174789-70174790	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs60889328	chr4:70174886-70174887	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs397746848	chr4:70174896-70174897	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs577960512	chr4:70174900-70174901	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs573587327	chr4:70174908-70174909	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs542469589	chr4:70174930-70174931	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs191170033	chr4:70174951-70174952	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs557726533	chr4:70174956-70174957	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs574384389	chr4:70174963-70174964	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs531371387	chr4:70174976-70174977	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs551324819	chr4:70174987-70174988	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs10026093	chr4:70174989-70174990	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs527444776	chr4:70175065-70175066	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70174000-70176000	Enhancers	Stomach Mucosa	stomach
2	chr4:70174200-70175000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:70174400-70174600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:70174400-70176400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:70174600-70175400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:70174600-70175400	Enhancers	HepG2	liver
7	chr4:70174600-70176200	Enhancers	Fetal Intestine Large	intestine
8	chr4:70174600-70176200	Enhancers	Fetal Intestine Small	intestine
9	chr4:70174800-70175200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:70174800-70176600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:70175000-70175800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:70175000-70176000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:70175800-70176800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:70176000-70181400	Weak transcription	Stomach Mucosa	stomach
15	chr4:70176600-70178600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:70176800-70183400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:70178600-70178800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:70178800-70179000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:70181400-70181800	Enhancers	Stomach Mucosa	stomach
20	chr4:70181800-70183400	Weak transcription	Stomach Mucosa	stomach
21	chr4:70183400-70183600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:70183400-70183800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:70183400-70184000	Enhancers	Stomach Mucosa	stomach
24	chr4:70183600-70183800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:70183800-70186600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:70183800-70187600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:70184000-70186600	Weak transcription	Stomach Mucosa	stomach
28	chr4:70186600-70187200	Enhancers	HSMMtube	muscle
29	chr4:70186600-70188400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr4:70186600-70188400	Enhancers	Fetal Intestine Large	intestine
31	chr4:70186600-70189600	Enhancers	Stomach Mucosa	stomach
32	chr4:70186800-70187400	Enhancers	K562	blood
33	chr4:70186800-70187600	Enhancers	HSMM	muscle
34	chr4:70186800-70187800	Enhancers	Esophagus	oesophagus
35	chr4:70186800-70188000	Enhancers	Gastric	stomach
36	chr4:70186800-70188000	Enhancers	Pancreas	Pancrea
37	chr4:70186800-70188400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:70187000-70187400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:70187000-70187600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:70187000-70187800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:70187000-70187800	Enhancers	Liver	Liver
42	chr4:70187000-70188000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:70187000-70188400	Enhancers	HMEC	breast
44	chr4:70187200-70187800	Flanking Active TSS	HSMMtube	muscle
45	chr4:70187200-70188400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:70187400-70188000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:70187400-70188400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr4:70187400-70188400	Weak transcription	K562	blood
49	chr4:70187400-70188400	Enhancers	NH-A	brain
50	chr4:70187600-70188000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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