Variant report

Variant	nsv1002931
Chromosome Location	chr4:70202471-70278437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:238)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:238 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:70210667-70210694	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:70254846-70255212	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:70274315-70274516	HepG2	liver:	n/a	n/a
4	BHLHE40	chr4:70209675-70209715	K562	blood:	n/a	n/a
5	CEBPB	chr4:70226229-70226403	HepG2	liver:	n/a	chr4:70226280-70226289 chr4:70226280-70226291
6	CEBPB	chr4:70254941-70255152	HepG2	liver:	n/a	n/a
7	CEBPB	chr4:70221057-70221267	HepG2	liver:	n/a	n/a
8	CEBPB	chr4:70276530-70276708	HepG2	liver:	n/a	n/a
9	CEBPB	chr4:70211562-70211766	HepG2	liver:	n/a	chr4:70211703-70211714
10	CEBPB	chr4:70209480-70209728	K562	blood:	n/a	n/a
11	CTCF	chr4:70270027-70270128	GM13976	blood:	n/a	n/a
12	CTCF	chr4:70220330-70220369	GM10248	blood:	n/a	n/a
13	CTCF	chr4:70265312-70265405	GM10266	blood:	n/a	n/a
14	CTCF	chr4:70262136-70262241	GM13977	blood:	n/a	n/a
15	CTCF	chr4:70243410-70243537	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:70243427-70243527	A549	lung:	n/a	n/a
17	CTCF	chr4:70243402-70243558	K562	blood:	n/a	n/a
18	CTCF	chr4:70210447-70210469	GM13976	blood:	n/a	n/a
19	CTCF	chr4:70243422-70243500	MCF-7	breast:	n/a	n/a
20	CTCF	chr4:70220469-70220576	GM13977	blood:	n/a	n/a
21	CTCF	chr4:70243420-70243570	HepG2	liver:	n/a	n/a
22	CTCF	chr4:70243358-70243514	GM12878	blood:	n/a	n/a
23	CTCF	chr4:70214160-70214310	GM06990	blood:	n/a	n/a
24	CTCF	chr4:70267641-70267711	GM13976	blood:	n/a	n/a
25	CTCF	chr4:70243354-70243561	HepG2	liver:	n/a	n/a
26	CTCF	chr4:70212145-70212187	GM10266	blood:	n/a	n/a
27	CTCF	chr4:70243397-70243568	HepG2	liver:	n/a	n/a
28	CTCF	chr4:70264856-70264920	GM20000	blood:	n/a	n/a
29	CTCF	chr4:70273177-70273286	GM13976	blood:	n/a	n/a
30	CTCF	chr4:70262141-70262217	GM10266	blood:	n/a	n/a
31	CTCF	chr4:70209548-70209602	Lung_OC	lung:	n/a	n/a
32	CTCF	chr4:70243460-70243610	MCF-7	breast:	n/a	n/a
33	CTCF	chr4:70220539-70220577	GM10248	blood:	n/a	n/a
34	CTCF	chr4:70263463-70263508	GM20000	blood:	n/a	n/a
35	CTCF	chr4:70272682-70272757	GM20000	blood:	n/a	n/a
36	CTCF	chr4:70270915-70270977	GM13977	blood:	n/a	n/a
37	CTCF	chr4:70209564-70209651	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr4:70243420-70243570	K562	blood:	n/a	n/a
39	CTCF	chr4:70259227-70259263	GM13976	blood:	n/a	n/a
40	CTCF	chr4:70212780-70212860	GM10248	blood:	n/a	n/a
41	CTCF	chr4:70253303-70253350	GM10248	blood:	n/a	n/a
42	CTCF	chr4:70243418-70243535	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:70243305-70243572	HepG2	liver:	n/a	n/a
44	CTCF	chr4:70243385-70243537	K562	blood:	n/a	n/a
45	CTCF	chr4:70261363-70261423	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr4:70234200-70234263	GM10266	blood:	n/a	n/a
47	CTCF	chr4:70262525-70262579	GM13977	blood:	n/a	n/a
48	CTCF	chr4:70243393-70243566	MCF-7	breast:	n/a	n/a
49	CTCF	chr4:70243451-70243551	LNCaP	prostate:	n/a	n/a
50	CTCF	chr4:70243413-70243568	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:70262708..70264895-chr4:70280098..70283006,2	K562	blood:

(count:2 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 749 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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:88)

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

Chromatin state (count:21 , 50 per page) page: 1

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

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