Variant report

Variant	nsv879427
Chromosome Location	chr4:70182126-70274557
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	chr4:70187845-70188142	K562	blood:	n/a	n/a
5	BHLHE40	chr4:70209675-70209715	K562	blood:	n/a	n/a
6	CEBPB	chr4:70211562-70211766	HepG2	liver:	n/a	chr4:70211703-70211714
7	CEBPB	chr4:70209480-70209728	K562	blood:	n/a	n/a
8	CEBPB	chr4:70226229-70226403	HepG2	liver:	n/a	chr4:70226280-70226289 chr4:70226280-70226291
9	CEBPB	chr4:70221057-70221267	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:70254941-70255152	HepG2	liver:	n/a	n/a
11	CTCF	chr4:70201300-70201450	HEK293	kidney:	n/a	n/a
12	CTCF	chr4:70183800-70183950	HMEC	breast:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
13	CTCF	chr4:70183680-70183830	K562	blood:	n/a	n/a
14	CTCF	chr4:70201325-70201486	LNCaP	prostate:	n/a	n/a
15	CTCF	chr4:70201320-70201470	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr4:70183692-70183909	HUVEC	blood vessel:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
17	CTCF	chr4:70183485-70184174	SK-N-SH	brain:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
18	CTCF	chr4:70183720-70183870	GM12864	blood:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
19	CTCF	chr4:70183675-70183866	ProgFib	skin:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
20	CTCF	chr4:70183580-70183730	HFF	foreskin:	n/a	n/a
21	CTCF	chr4:70183582-70184070	MCF-7	breast:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
22	CTCF	chr4:70183655-70183946	MCF-7	breast:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
23	CTCF	chr4:70183740-70183890	AG04450	lung:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
24	CTCF	chr4:70201322-70201505	Gliobla	brain:	n/a	n/a
25	CTCF	chr4:70183740-70183890	AG04449	skin:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
26	CTCF	chr4:70189000-70189150	GM12869	blood:	n/a	n/a
27	CTCF	chr4:70234200-70234263	GM10266	blood:	n/a	n/a
28	CTCF	chr4:70201267-70201437	GM12878	blood:	n/a	n/a
29	CTCF	chr4:70183651-70183943	IMR90	lung:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
30	CTCF	chr4:70201197-70201460	A549	lung:	n/a	n/a
31	CTCF	chr4:70201380-70201530	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr4:70183693-70183935	GM10248	blood:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
33	CTCF	chr4:70201320-70201470	HMEC	breast:	n/a	n/a
34	CTCF	chr4:70220469-70220576	GM13977	blood:	n/a	n/a
35	CTCF	chr4:70189140-70189290	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr4:70243418-70243535	MCF-7	breast:	n/a	n/a
37	CTCF	chr4:70183629-70183965	K562	blood:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
38	CTCF	chr4:70189060-70189210	GM12867	blood:	n/a	n/a
39	CTCF	chr4:70183720-70183870	AG10803	skin:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
40	CTCF	chr4:70183800-70183950	NB4	blood:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
41	CTCF	chr4:70189060-70189210	RPTEC	kidney:	n/a	n/a
42	CTCF	chr4:70183740-70183890	K562	blood:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
43	CTCF	chr4:70201320-70201470	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr4:70183740-70183890	HRPEpiC	eye:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
45	CTCF	chr4:70183720-70183870	GM12867	blood:	n/a	chr4:70183815-70183833 chr4:70183817-70183838
46	CTCF	chr4:70201320-70201470	RPTEC	kidney:	n/a	n/a
47	CTCF	chr4:70189140-70189290	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr4:70189240-70189390	HAc	cerebellar:	n/a	n/a
49	CTCF	chr4:70201380-70201530	HCT-116	colon:	n/a	n/a
50	CTCF	chr4:70183700-70183850	GM12868	blood:	n/a	chr4:70183815-70183833 chr4:70183817-70183838

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

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
ENSG00000248824	TF binding region
ENSG00000268209	TF binding region
ENSG00000215110	TF binding region
ENSG00000249956	TF binding region
ENSG00000250612	TF binding region

Extended variants
information (count: 1089 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1089 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10031472	chr4:70182126-70182127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547492989	chr4:70182145-70182146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181470262	chr4:70182196-70182197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536667531	chr4:70182197-70182198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55687063	chr4:70182198-70182199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569130992	chr4:70182236-70182237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576316622	chr4:70182246-70182247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73826646	chr4:70182260-70182261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558757595	chr4:70182324-70182325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55675075	chr4:70182439-70182440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556672345	chr4:70182440-70182441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537972709	chr4:70182478-70182479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73826647	chr4:70182489-70182490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573380220	chr4:70182505-70182506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7674519	chr4:70182508-70182509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543439206	chr4:70182554-70182555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563018269	chr4:70182582-70182583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532074793	chr4:70182590-70182591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148744465	chr4:70182602-70182603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144678776	chr4:70182624-70182625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370480101	chr4:70182628-70182629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4510521	chr4:70182633-70182634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186768317	chr4:70182636-70182637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567457778	chr4:70182641-70182642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536233452	chr4:70182660-70182661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376111175	chr4:70182663-70182664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371048188	chr4:70182722-70182723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374462091	chr4:70182738-70182739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192185238	chr4:70182767-70182768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538886623	chr4:70182818-70182819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558895858	chr4:70182830-70182831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552924223	chr4:70182874-70182875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11934866	chr4:70182891-70182892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183956801	chr4:70182906-70182907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574612000	chr4:70182926-70182927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545289256	chr4:70182931-70182932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543047441	chr4:70182950-70182951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563333177	chr4:70183025-70183026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576769427	chr4:70183064-70183065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186031201	chr4:70183068-70183069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189832041	chr4:70183073-70183074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6843772	chr4:70183077-70183078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370490377	chr4:70183107-70183108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541257422	chr4:70183116-70183117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561046388	chr4:70183149-70183150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530253633	chr4:70183184-70183185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35405141	chr4:70183200-70183201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550016058	chr4:70183203-70183204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544402363	chr4:70183240-70183241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569987797	chr4:70183248-70183249	Weak transcription	n/a	n/a	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70176800-70183400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:70181800-70183400	Weak transcription	Stomach Mucosa	stomach
3	chr4:70183400-70183600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:70183400-70183800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:70183400-70184000	Enhancers	Stomach Mucosa	stomach
6	chr4:70183600-70183800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:70183800-70186600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:70183800-70187600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:70184000-70186600	Weak transcription	Stomach Mucosa	stomach
10	chr4:70186600-70187200	Enhancers	HSMMtube	muscle
11	chr4:70186600-70188400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:70186600-70188400	Enhancers	Fetal Intestine Large	intestine
13	chr4:70186600-70189600	Enhancers	Stomach Mucosa	stomach
14	chr4:70186800-70187400	Enhancers	K562	blood
15	chr4:70186800-70187600	Enhancers	HSMM	muscle
16	chr4:70186800-70187800	Enhancers	Esophagus	oesophagus
17	chr4:70186800-70188000	Enhancers	Gastric	stomach
18	chr4:70186800-70188000	Enhancers	Pancreas	Pancrea
19	chr4:70186800-70188400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:70187000-70187400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:70187000-70187600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:70187000-70187800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:70187000-70187800	Enhancers	Liver	Liver
24	chr4:70187000-70188000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:70187000-70188400	Enhancers	HMEC	breast
26	chr4:70187200-70187800	Flanking Active TSS	HSMMtube	muscle
27	chr4:70187200-70188400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:70187400-70188000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:70187400-70188400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:70187400-70188400	Weak transcription	K562	blood
31	chr4:70187400-70188400	Enhancers	NH-A	brain
32	chr4:70187600-70188000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:70187600-70188000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:70187600-70188000	Flanking Active TSS	HSMM	muscle
35	chr4:70187600-70188400	Enhancers	Fetal Intestine Small	intestine
36	chr4:70187600-70188800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:70187800-70188800	Enhancers	HSMMtube	muscle
38	chr4:70188000-70188400	Weak transcription	Pancreas	Pancrea
39	chr4:70188000-70188400	Enhancers	HSMM	muscle
40	chr4:70188000-70188600	Weak transcription	Gastric	stomach
41	chr4:70188400-70188800	Enhancers	Pancreas	Pancrea
42	chr4:70188400-70189200	Enhancers	K562	blood
43	chr4:70188400-70189600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:70188600-70188800	Enhancers	Gastric	stomach
45	chr4:70195800-70197400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr4:70196000-70196600	Enhancers	Fetal Kidney	kidney
47	chr4:70196000-70197600	Active TSS	Liver	Liver
48	chr4:70196400-70197400	Enhancers	Fetal Intestine Small	intestine
49	chr4:70196800-70197600	Enhancers	Fetal Intestine Large	intestine
50	chr4:70208600-70210400	Enhancers	Fetal Intestine Large	intestine

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