Variant report

Variant	nsv537171
Chromosome Location	chr4:88182433-88209309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:315)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:88196507-88196704	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:88199339-88199978	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:88191313-88191649	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:88195615-88195678	HepG2	liver:	n/a	n/a
5	ATF3	chr4:88199339-88199930	HepG2	liver:	n/a	n/a
6	ATF3	chr4:88199549-88199769	HepG2	liver:	n/a	n/a
7	BACH1	chr4:88191402-88191656	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr4:88199507-88199750	HepG2	liver:	n/a	n/a
9	BHLHE40	chr4:88199328-88199876	HepG2	liver:	n/a	n/a
10	BHLHE40	chr4:88199420-88199720	HepG2	liver:	n/a	n/a
11	BRCA1	chr4:88191281-88191673	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr4:88207920-88208188	K562	blood:	n/a	n/a
13	CEBPB	chr4:88195585-88195771	HepG2	liver:	n/a	n/a
14	CEBPB	chr4:88199523-88199974	HepG2	liver:	n/a	n/a
15	CEBPB	chr4:88197413-88197511	HepG2	liver:	n/a	chr4:88197420-88197431
16	CTCF	chr4:88191400-88191550	AG09319	gingival:	n/a	n/a
17	CTCF	chr4:88191400-88191550	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr4:88191400-88191550	HPF	lung:	n/a	n/a
19	CTCF	chr4:88191382-88191591	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr4:88191454-88191547	GM12892	blood:	n/a	n/a
21	CTCF	chr4:88191127-88191895	SK-N-SH	brain:	n/a	n/a
22	CTCF	chr4:88191380-88191530	GM12865	blood:	n/a	n/a
23	CTCF	chr4:88191400-88191550	HMEC	breast:	n/a	n/a
24	CTCF	chr4:88191400-88191550	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr4:88191400-88191550	GM12870	blood:	n/a	n/a
26	CTCF	chr4:88191360-88191510	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr4:88191317-88191700	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr4:88191378-88191659	K562	blood:	n/a	n/a
29	CTCF	chr4:88191368-88191550	T-47D	breast:	n/a	n/a
30	CTCF	chr4:88191400-88191550	Caco-2	colon:	n/a	n/a
31	CTCF	chr4:88191425-88191533	GM10266	blood:	n/a	n/a
32	CTCF	chr4:88191340-88191490	GM12874	blood:	n/a	n/a
33	CTCF	chr4:88191175-88191752	HCT-116	colon:	n/a	n/a
34	CTCF	chr4:88191420-88191570	K562	blood:	n/a	n/a
35	CTCF	chr4:88191400-88191550	HMF	breast:	n/a	n/a
36	CTCF	chr4:88191420-88191570	GM12878	blood:	n/a	n/a
37	CTCF	chr4:88191354-88191630	Medullo	brain:	n/a	n/a
38	CTCF	chr4:88191424-88191545	GM10248	blood:	n/a	n/a
39	CTCF	chr4:88191392-88191600	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr4:88191340-88191490	GM12866	blood:	n/a	n/a
41	CTCF	chr4:88191434-88191551	MCF-7	breast:	n/a	n/a
42	CTCF	chr4:88191378-88191613	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr4:88191374-88191602	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:88191380-88191530	HepG2	liver:	n/a	n/a
45	CTCF	chr4:88191393-88191597	Lung_OC	lung:	n/a	n/a
46	CTCF	chr4:88191460-88191610	GM12872	blood:	n/a	n/a
47	CTCF	chr4:88191380-88191530	GM06990	blood:	n/a	n/a
48	CTCF	chr4:88191377-88191608	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr4:88191380-88191530	HFF	foreskin:	n/a	n/a
50	CTCF	chr4:88191272-88191690	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:88140123..88141719-chr4:88189481..88191440,2	MCF-7	breast:
2	chr4:88190901..88191577-chr4:88769909..88770797,2	MCF-7	breast:
3	chr4:88161337..88162947-chr4:88190418..88192890,2	K562	blood:
4	chr4:88132419..88135036-chr4:88191101..88193543,2	K562	blood:
5	chr4:88183411..88186658-chr4:88187924..88190841,3	K562	blood:
6	chr10:46970031..46970993-chr4:88194361..88194882,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSD17B13-1	chr4:88183083-88183251	XLOC_004009
2	lnc-AFF1-1	chr4:88199776-88199855	XLOC_003601
3	lnc-AFF1-1	chr4:88192262-88192330	XLOC_003601
4	lnc-HSD17B13-1	chr4:88187887-88187974	XLOC_004009
5	lnc-AFF1-1	chr4:88198781-88198895	XLOC_003601

No data

Variant related genes	Relation type
ENSG00000250572	TF binding region
ENSG00000204176	chromatin interactions
ENSG00000250572	chromatin interactions
ENSG00000145332	chromatin interactions
CREG1	miRNA target sites
CREBZF	miRNA target sites

Extended variants
information (count: 872 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:872 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73839134	chr4:88183088-88183089	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140761063	chr4:88183132-88183133	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs190635081	chr4:88183454-88183455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138934411	chr4:88183521-88183522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550220878	chr4:88183580-88183581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201776975	chr4:88183603-88183604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571579052	chr4:88183635-88183636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182312023	chr4:88183638-88183639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185984955	chr4:88183644-88183645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189786203	chr4:88183742-88183743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376615060	chr4:88183770-88183771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549229552	chr4:88183814-88183815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs72131882	chr4:88183815-88183816	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529141866	chr4:88183817-88183818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200006983	chr4:88183818-88183819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs202243304	chr4:88183819-88183820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs71633359	chr4:88183820-88183821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs67829898	chr4:88183823-88183824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61622587	chr4:88183827-88183828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201105038	chr4:88183830-88183831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537218099	chr4:88183888-88183889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558601310	chr4:88183916-88183917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577163619	chr4:88183937-88183938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377363610	chr4:88183951-88183952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115364524	chr4:88183960-88183961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560488096	chr4:88184013-88184014	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572600847	chr4:88184024-88184025	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542738775	chr4:88184040-88184041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76211115	chr4:88184049-88184050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534006930	chr4:88184081-88184082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148250742	chr4:88184143-88184144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565245476	chr4:88184175-88184176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552436573	chr4:88184255-88184256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181066539	chr4:88184276-88184277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34675366	chr4:88184283-88184284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547034092	chr4:88184285-88184286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141872970	chr4:88184310-88184311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529833553	chr4:88184356-88184357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150642522	chr4:88184362-88184363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547998185	chr4:88184430-88184431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191198326	chr4:88184437-88184438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569706325	chr4:88184473-88184474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536858933	chr4:88184511-88184512	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558744805	chr4:88184537-88184538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10428297	chr4:88184540-88184541	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116683180	chr4:88184541-88184542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536707893	chr4:88184544-88184545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570639844	chr4:88184562-88184563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572364202	chr4:88184642-88184643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542979286	chr4:88184644-88184645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	22522925	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88184600-88191400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:88185000-88186000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:88185200-88185800	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:88185200-88185800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr4:88185400-88185800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:88185600-88186200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:88185800-88186400	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:88186200-88187600	Weak transcription	Aorta	Aorta
9	chr4:88187600-88188400	Enhancers	Aorta	Aorta
10	chr4:88187800-88189200	Enhancers	Adipose Nuclei	Adipose
11	chr4:88188000-88188200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:88188000-88188400	Enhancers	Fetal Kidney	kidney
13	chr4:88188200-88188600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:88188400-88188800	Weak transcription	Fetal Kidney	kidney
15	chr4:88188600-88189400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:88188800-88189600	Enhancers	Fetal Kidney	kidney
17	chr4:88188800-88190000	Enhancers	Colon Smooth Muscle	Colon
18	chr4:88189800-88190000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr4:88190400-88190600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:88190600-88191800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:88191200-88191600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr4:88191200-88192200	Enhancers	Brain Hippocampus Middle	brain
23	chr4:88191400-88192000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:88191600-88192000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr4:88191600-88192200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:88191600-88192200	Enhancers	Brain Anterior Caudate	brain
27	chr4:88191800-88192200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:88191800-88192200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:88191800-88192200	Enhancers	Brain Angular Gyrus	brain
30	chr4:88191800-88192200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:88191800-88192200	Enhancers	Hela-S3	cervix
32	chr4:88191800-88192400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:88191800-88192400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr4:88191800-88192400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:88191800-88192400	Enhancers	Liver	Liver
36	chr4:88191800-88192400	Enhancers	HepG2	liver
37	chr4:88191800-88192600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:88192200-88192400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:88192400-88193200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:88192400-88196000	Weak transcription	Liver	Liver
41	chr4:88192600-88193000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:88193000-88193400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:88193400-88193600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr4:88193400-88193600	Enhancers	HepG2	liver
45	chr4:88193400-88194400	Enhancers	Stomach Mucosa	stomach
46	chr4:88193600-88195400	Weak transcription	HepG2	liver
47	chr4:88194400-88196000	Weak transcription	Stomach Mucosa	stomach
48	chr4:88195400-88197000	Enhancers	HepG2	liver
49	chr4:88195800-88196400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:88196000-88196200	Enhancers	Fetal Intestine Large	intestine

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