Variant report

Variant	nsv879434
Chromosome Location	chr4:70212288-70320166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:711)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:70254846-70255212	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:70296492-70296914	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:70274315-70274516	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:70296492-70296919	K562	blood:	n/a	n/a
5	ATF1	chr4:70296489-70296914	K562	blood:	n/a	n/a
6	ATF3	chr4:70296499-70296777	HepG2	liver:	n/a	n/a
7	ATF3	chr4:70296558-70296973	A549	lung:	n/a	n/a
8	ATF3	chr4:70296574-70296796	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr4:70296552-70296826	A549	lung:	n/a	n/a
10	BACH1	chr4:70296489-70296908	K562	blood:	n/a	n/a
11	BATF	chr4:70296590-70296824	GM12878	blood:	n/a	n/a
12	BATF	chr4:70296589-70296863	GM12878	blood:	n/a	chr4:70296823-70296832
13	BCL11A	chr4:70296551-70296867	GM12878	blood:	n/a	n/a
14	BCL11A	chr4:70296603-70296770	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL11A	chr4:70296596-70296779	GM12878	blood:	n/a	n/a
16	BCL11A	chr4:70296569-70296786	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr4:70296548-70296829	A549	lung:	n/a	n/a
18	BCL3	chr4:70296436-70296843	A549	lung:	n/a	n/a
19	BCLAF1	chr4:70296549-70296826	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:70296485-70296909	GM12878	blood:	n/a	n/a
21	BHLHE40	chr4:70296483-70296924	K562	blood:	n/a	n/a
22	BRCA1	chr4:70296483-70296909	HepG2	liver:	n/a	n/a
23	BRCA1	chr4:70296486-70296910	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr4:70296484-70296924	GM12878	blood:	n/a	n/a
25	CBX3	chr4:70290507-70290706	K562	blood:	n/a	n/a
26	CCNT2	chr4:70296445-70296895	K562	blood:	n/a	n/a
27	CEBPB	chr4:70276530-70276708	HepG2	liver:	n/a	n/a
28	CEBPB	chr4:70296492-70296908	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr4:70226229-70226403	HepG2	liver:	n/a	chr4:70226280-70226289 chr4:70226280-70226291
30	CEBPB	chr4:70296486-70296925	K562	blood:	n/a	n/a
31	CEBPB	chr4:70302923-70302937	HepG2	liver:	n/a	n/a
32	CEBPB	chr4:70221057-70221267	HepG2	liver:	n/a	n/a
33	CEBPB	chr4:70254941-70255152	HepG2	liver:	n/a	n/a
34	CEBPB	chr4:70296589-70296760	HepG2	liver:	n/a	n/a
35	CEBPB	chr4:70319378-70319596	HepG2	liver:	n/a	chr4:70319545-70319556
36	CEBPB	chr4:70296570-70296806	HepG2	liver:	n/a	n/a
37	CEBPD	chr4:70296548-70296776	HepG2	liver:	n/a	n/a
38	CEBPD	chr4:70296470-70296789	HepG2	liver:	n/a	n/a
39	CEBPD	chr4:70296588-70296895	K562	blood:	n/a	n/a
40	CHD1	chr4:70296484-70296924	GM12878	blood:	n/a	n/a
41	CHD2	chr4:70296490-70296924	GM12878	blood:	n/a	n/a
42	CHD2	chr4:70296483-70296910	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr4:70296483-70296909	K562	blood:	n/a	n/a
44	CHD2	chr4:70296447-70296925	HepG2	liver:	n/a	n/a
45	CREB1	chr4:70296590-70296782	A549	lung:	n/a	n/a
46	CTBP2	chr4:70296490-70296910	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr4:70296620-70296770	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr4:70296600-70296750	A549	lung:	n/a	n/a
49	CTCF	chr4:70296620-70296770	GM12867	blood:	n/a	n/a
50	CTCF	chr4:70296680-70296830	AG04449	skin:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:9825015..9827465-chr4:70296669..70298179,2	K562	blood:
2	chr4:70262708..70264895-chr4:70280098..70283006,2	K562	blood:
3	chr19:36066562..36067220-chr4:70296617..70297159,2	MCF-7	breast:
4	chr4:70262708..70264895-chr4:70280098..70283006,2	K562	blood:
5	chr2:133038471..133039156-chr4:70296229..70297178,3	MCF-7	breast:
6	chr4:70296625..70297182-chr6:133594074..133594625,3	MCF-7	breast:
7	chr21:9824058..9826515-chr4:70295211..70298169,2	K562	blood:
8	chr2:169797130..169797902-chr4:70311918..70312713,2	MCF-7	breast:
9	chr19:24184130..24184632-chr4:70296678..70297183,2	MCF-7	breast:
10	chr19:24183615..24184637-chr4:70296138..70296644,3	K562	blood:
11	chr2:133011384..133014243-chr4:70295163..70298145,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B28-5	chr4:70272649-70273373	NONHSAT096764
2	lnc-UGT2B28-7	chr4:70315732-70315864	NONHSAT096766
3	lnc-UGT2B28-6	chr4:70303075-70303156	NONHSAT096765
4	lnc-UGT2B28-4	chr4:70253298-70254025	NONHSAT096763
5	lnc-UGT2B28-6	chr4:70306600-70306768	NONHSAT096765
6	lnc-UGT2B28-7	chr4:70317229-70317331	NONHSAT096766
7	lnc-UGT2B28-6	chr4:70304044-70304260	NONHSAT096765

No data

Variant related genes	Relation type
ENSG00000268209	TF binding region
ENSG00000250828	TF binding region
ENSG00000249956	TF binding region
ENSG00000248824	TF binding region
ENSG00000249686	TF binding region
ENSG00000215110	TF binding region
ENSG00000250612	TF binding region
ENSG00000264462	chromatin interactions
ENSG00000264063	chromatin interactions

Extended variants
information (count: 1138 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1138 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28578257	chr4:70212288-70212289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs149247406	chr4:70212293-70212294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549292771	chr4:70212303-70212304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200253577	chr4:70212305-70212306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs192398398	chr4:70212317-70212318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs184855296	chr4:70212324-70212325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551491433	chr4:70212325-70212326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs567168577	chr4:70220331-70220332	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535733556	chr4:70220338-70220339	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549297737	chr4:70220341-70220342	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566681289	chr4:70220348-70220349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113939217	chr4:70220361-70220362	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs13130653	chr4:70220385-70220386	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558069378	chr4:70220386-70220387	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs578023400	chr4:70220388-70220389	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs13130660	chr4:70220397-70220398	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6857486	chr4:70220412-70220413	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs6837653	chr4:70220414-70220415	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542939646	chr4:70220442-70220443	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs183475323	chr4:70220459-70220460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs372322811	chr4:70220480-70220481	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113361273	chr4:70220484-70220485	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs6828200	chr4:70220490-70220491	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188872218	chr4:70220509-70220510	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527348261	chr4:70220544-70220545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs6843977	chr4:70220548-70220549	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560920411	chr4:70220553-70220554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs193122140	chr4:70220559-70220560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs183670414	chr4:70220581-70220582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371809450	chr4:70220588-70220589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs6828397	chr4:70220591-70220592	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115204830	chr4:70220597-70220598	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs551916097	chr4:70220628-70220629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186932204	chr4:70220691-70220692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs534277215	chr4:70220719-70220720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554019665	chr4:70220746-70220747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs143599896	chr4:70220755-70220756	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs542904760	chr4:70220760-70220761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556601423	chr4:70220770-70220771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs576379085	chr4:70220786-70220787	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs143013516	chr4:70220811-70220812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545339641	chr4:70220835-70220836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114642184	chr4:70220870-70220871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191710192	chr4:70220880-70220881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114688320	chr4:70220895-70220896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560778074	chr4:70220935-70220936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553209843	chr4:70220948-70220949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529740065	chr4:70220956-70220957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542984765	chr4:70220971-70220972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116490876	chr4:70221038-70221039	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21215367	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70220200-70220800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:70220800-70221200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:70221200-70226200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:70225400-70226400	Enhancers	Fetal Intestine Large	intestine
5	chr4:70225400-70226800	Enhancers	Fetal Intestine Small	intestine
6	chr4:70226000-70226400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:70226200-70226400	Active TSS	Duodenum Mucosa	Duodenum
8	chr4:70226200-70226600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:70226400-70226600	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr4:70226600-70228000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:70228000-70228400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:70244200-70244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:70265000-70265400	Enhancers	Fetal Heart	heart
14	chr4:70295800-70296400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:70296400-70296800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:70296400-70297000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr4:70296400-70297000	ZNF genes & repeats	Gastric	stomach
18	chr4:70296400-70297000	ZNF genes & repeats	Right Atrium	heart
19	chr4:70296400-70297000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
20	chr4:70296400-70297000	Flanking Bivalent TSS/Enh	Spleen	Spleen
21	chr4:70296600-70296800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:70296600-70296800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
25	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:70296600-70296800	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
28	chr4:70296600-70296800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr4:70296600-70296800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
31	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
32	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:70296600-70296800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
34	chr4:70296600-70296800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr4:70296600-70296800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:70296600-70296800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:70296600-70296800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:70296600-70296800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:70296600-70296800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Aorta	Aorta
42	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
43	chr4:70296600-70296800	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
45	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
46	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
47	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr4:70296600-70296800	Bivalent Enhancer	Fetal Heart	heart
49	chr4:70296600-70296800	ZNF genes & repeats	Fetal Kidney	kidney
50	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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