Variant report

Variant	nsv879431
Chromosome Location	chr4:70201839-70328040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:785)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:70296492-70296919	K562	blood:	n/a	n/a
2	ARID3A	chr4:70296492-70296914	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:70210667-70210694	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:70254846-70255212	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:70324166-70324568	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:70274315-70274516	HepG2	liver:	n/a	n/a
7	ATF1	chr4:70296489-70296914	K562	blood:	n/a	n/a
8	ATF3	chr4:70296558-70296973	A549	lung:	n/a	n/a
9	ATF3	chr4:70296574-70296796	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr4:70296552-70296826	A549	lung:	n/a	n/a
11	ATF3	chr4:70296499-70296777	HepG2	liver:	n/a	n/a
12	BACH1	chr4:70296489-70296908	K562	blood:	n/a	n/a
13	BATF	chr4:70296590-70296824	GM12878	blood:	n/a	n/a
14	BATF	chr4:70296589-70296863	GM12878	blood:	n/a	chr4:70296823-70296832
15	BCL11A	chr4:70296569-70296786	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL11A	chr4:70296603-70296770	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL11A	chr4:70296551-70296867	GM12878	blood:	n/a	n/a
18	BCL11A	chr4:70296596-70296779	GM12878	blood:	n/a	n/a
19	BCL3	chr4:70296436-70296843	A549	lung:	n/a	n/a
20	BCL3	chr4:70296548-70296829	A549	lung:	n/a	n/a
21	BCLAF1	chr4:70296549-70296826	GM12878	blood:	n/a	n/a
22	BHLHE40	chr4:70296483-70296924	K562	blood:	n/a	n/a
23	BHLHE40	chr4:70209675-70209715	K562	blood:	n/a	n/a
24	BHLHE40	chr4:70296485-70296909	GM12878	blood:	n/a	n/a
25	BRCA1	chr4:70296484-70296924	GM12878	blood:	n/a	n/a
26	BRCA1	chr4:70296486-70296910	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr4:70296483-70296909	HepG2	liver:	n/a	n/a
28	CBX3	chr4:70290507-70290706	K562	blood:	n/a	n/a
29	CCNT2	chr4:70296445-70296895	K562	blood:	n/a	n/a
30	CEBPB	chr4:70254941-70255152	HepG2	liver:	n/a	n/a
31	CEBPB	chr4:70221057-70221267	HepG2	liver:	n/a	n/a
32	CEBPB	chr4:70324294-70324494	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr4:70296589-70296760	HepG2	liver:	n/a	n/a
34	CEBPB	chr4:70302923-70302937	HepG2	liver:	n/a	n/a
35	CEBPB	chr4:70211562-70211766	HepG2	liver:	n/a	chr4:70211703-70211714
36	CEBPB	chr4:70209480-70209728	K562	blood:	n/a	n/a
37	CEBPB	chr4:70296492-70296908	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr4:70296486-70296925	K562	blood:	n/a	n/a
39	CEBPB	chr4:70319378-70319596	HepG2	liver:	n/a	chr4:70319545-70319556
40	CEBPB	chr4:70324212-70324508	HepG2	liver:	n/a	n/a
41	CEBPB	chr4:70296570-70296806	HepG2	liver:	n/a	n/a
42	CEBPB	chr4:70226229-70226403	HepG2	liver:	n/a	chr4:70226280-70226289 chr4:70226280-70226291
43	CEBPB	chr4:70276530-70276708	HepG2	liver:	n/a	n/a
44	CEBPB	chr4:70324169-70324482	HepG2	liver:	n/a	n/a
45	CEBPB	chr4:70324137-70324588	HepG2	liver:	n/a	n/a
46	CEBPB	chr4:70324164-70324515	HepG2	liver:	n/a	n/a
47	CEBPD	chr4:70296470-70296789	HepG2	liver:	n/a	n/a
48	CEBPD	chr4:70296588-70296895	K562	blood:	n/a	n/a
49	CEBPD	chr4:70296548-70296776	HepG2	liver:	n/a	n/a
50	CHD1	chr4:70296484-70296924	GM12878	blood:	n/a	n/a

No data

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B28-7	chr4:70315732-70315864	NONHSAT096766
2	lnc-UGT2B28-6	chr4:70306600-70306768	NONHSAT096765
3	lnc-UGT2B28-7	chr4:70317229-70317331	NONHSAT096766
4	lnc-UGT2B28-5	chr4:70272649-70273373	NONHSAT096764
5	lnc-UGT2B28-4	chr4:70253298-70254025	NONHSAT096763
6	lnc-UGT2B28-6	chr4:70303075-70303156	NONHSAT096765
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
ENSG00000264063	chromatin interactions
ENSG00000264462	chromatin interactions

Extended variants
information (count: 1476 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1476 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551671930	chr4:70207963-70207964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs571453515	chr4:70207967-70207968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534009101	chr4:70207968-70207969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs151237980	chr4:70207972-70207973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs577813484	chr4:70208100-70208101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs62306002	chr4:70208154-70208155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs540462805	chr4:70208278-70208279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368196320	chr4:70208281-70208282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562890307	chr4:70208282-70208283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs573749172	chr4:70208297-70208298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs182387395	chr4:70208307-70208308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs140621221	chr4:70208329-70208330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150476140	chr4:70208346-70208347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs138317600	chr4:70208360-70208361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs542467870	chr4:70208366-70208367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs13139666	chr4:70208398-70208399	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187387567	chr4:70208401-70208402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs192335713	chr4:70208426-70208427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs180688744	chr4:70208470-70208471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs13123311	chr4:70208496-70208497	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569527856	chr4:70208504-70208505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs538673787	chr4:70208505-70208506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs546732098	chr4:70208511-70208512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs143478672	chr4:70208541-70208542	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200265066	chr4:70208553-70208554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534222764	chr4:70208577-70208578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs560271955	chr4:70208581-70208582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs143880192	chr4:70208583-70208584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs115809601	chr4:70208593-70208594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs542742539	chr4:70208610-70208611	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs556648287	chr4:70208611-70208612	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs576358573	chr4:70208618-70208619	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs148604238	chr4:70208619-70208620	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552195100	chr4:70208626-70208627	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs185172928	chr4:70208667-70208668	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs369136073	chr4:70208735-70208736	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs527537493	chr4:70208736-70208737	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs543641768	chr4:70208737-70208738	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs561047225	chr4:70208742-70208743	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs374777397	chr4:70208779-70208780	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs189983112	chr4:70208780-70208781	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs569773459	chr4:70208783-70208784	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs532114843	chr4:70208787-70208788	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs568797701	chr4:70208795-70208796	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs551707674	chr4:70208810-70208811	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565356202	chr4:70208811-70208812	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs534189375	chr4:70208814-70208815	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547720096	chr4:70208823-70208824	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567739010	chr4:70208838-70208839	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536900993	chr4:70208851-70208852	Enhancers	TF binding region	1 gene(s)	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:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70208600-70210400	Enhancers	Fetal Intestine Large	intestine
2	chr4:70208600-70210400	Enhancers	Fetal Intestine Small	intestine
3	chr4:70208600-70210400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr4:70208600-70210600	Enhancers	Stomach Mucosa	stomach
5	chr4:70209200-70209400	Enhancers	HepG2	liver
6	chr4:70209400-70210000	Weak transcription	HepG2	liver
7	chr4:70210000-70210600	Enhancers	HepG2	liver
8	chr4:70210000-70210800	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:70220200-70220800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:70220800-70221200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:70221200-70226200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:70225400-70226400	Enhancers	Fetal Intestine Large	intestine
13	chr4:70225400-70226800	Enhancers	Fetal Intestine Small	intestine
14	chr4:70226000-70226400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:70226200-70226400	Active TSS	Duodenum Mucosa	Duodenum
16	chr4:70226200-70226600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:70226400-70226600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr4:70226600-70228000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:70228000-70228400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:70244200-70244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:70265000-70265400	Enhancers	Fetal Heart	heart
22	chr4:70295800-70296400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:70296400-70296800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:70296400-70297000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr4:70296400-70297000	ZNF genes & repeats	Gastric	stomach
26	chr4:70296400-70297000	ZNF genes & repeats	Right Atrium	heart
27	chr4:70296400-70297000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
28	chr4:70296400-70297000	Flanking Bivalent TSS/Enh	Spleen	Spleen
29	chr4:70296600-70296800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:70296600-70296800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
33	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:70296600-70296800	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
36	chr4:70296600-70296800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr4:70296600-70296800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
39	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
40	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:70296600-70296800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr4:70296600-70296800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr4:70296600-70296800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:70296600-70296800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:70296600-70296800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:70296600-70296800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:70296600-70296800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Aorta	Aorta
50	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain

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