Variant report

Variant	esv2760858
Chromosome Location	chr4:106351454-106376197
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	BATF	chr4:106374921-106375327	GM12878	blood:	n/a	chr4:106375125-106375134
2	BATF	chr4:106374937-106375316	GM12878	blood:	n/a	chr4:106375125-106375134
3	BCL11A	chr4:106374948-106375295	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:106374954-106375341	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:106375034-106375318	GM12878	blood:	n/a	n/a
6	CBX3	chr4:106356646-106356963	K562	blood:	n/a	n/a
7	CEBPB	chr4:106366955-106367125	HepG2	liver:	n/a	chr4:106367083-106367094 chr4:106367082-106367093 chr4:106367084-106367093
8	CEBPB	chr4:106374311-106374562	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr4:106358961-106359153	K562	blood:	n/a	n/a
10	CEBPB	chr4:106375424-106375555	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr4:106374301-106374450	K562	blood:	n/a	n/a
12	CHD2	chr4:106374948-106375315	GM12878	blood:	n/a	n/a
13	CTCF	chr4:106355460-106355610	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr4:106355500-106355650	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr4:106375100-106375250	AG04450	lung:	n/a	n/a
16	CTCF	chr4:106375120-106375270	GM12868	blood:	n/a	n/a
17	CTCF	chr4:106362160-106362310	HPF	lung:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
18	CTCF	chr4:106375060-106375210	GM12872	blood:	n/a	n/a
19	CTCF	chr4:106362180-106362330	HCFaa	heart:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
20	CTCF	chr4:106362140-106362290	BJ	skin:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
21	CTCF	chr4:106375125-106375234	GM13977	blood:	n/a	n/a
22	CTCF	chr4:106362140-106362290	AG04449	skin:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
23	CTCF	chr4:106375166-106375220	Gliobla	brain:	n/a	n/a
24	CTCF	chr4:106375162-106375208	GM10266	blood:	n/a	n/a
25	CTCF	chr4:106375020-106375170	RPTEC	kidney:	n/a	n/a
26	CTCF	chr4:106362140-106362290	Hela-S3	cervix:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
27	CTCF	chr4:106375005-106375386	GM12878	blood:	n/a	n/a
28	CTCF	chr4:106375140-106375290	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr4:106362106-106362370	IMR90	lung:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
30	CTCF	chr4:106375172-106375219	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr4:106362060-106362210	BE2_C	brain:	n/a	n/a
32	CTCF	chr4:106375140-106375290	RPTEC	kidney:	n/a	n/a
33	CTCF	chr4:106375160-106375310	MCF-7	breast:	n/a	n/a
34	CTCF	chr4:106362140-106362290	AG04450	lung:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
35	CTCF	chr4:106362240-106362390	NHDF-neo	bronchial:	n/a	chr4:106362240-106362256
36	CTCF	chr4:106375160-106375310	HMF	breast:	n/a	n/a
37	CTCF	chr4:106375080-106375230	BJ	skin:	n/a	n/a
38	CTCF	chr4:106362180-106362330	AG04449	skin:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
39	CTCF	chr4:106362180-106362330	HCM	heart:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
40	CTCF	chr4:106375153-106375246	GM19239	blood:	n/a	n/a
41	CTCF	chr4:106375160-106375310	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr4:106375160-106375310	GM06990	blood:	n/a	n/a
43	CTCF	chr4:106362060-106362330	HCT-116	colon:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
44	CTCF	chr4:106362160-106362310	NHDF-neo	bronchial:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
45	CTCF	chr4:106375140-106375290	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr4:106362100-106362250	WI-38	lung:	n/a	n/a
47	CTCF	chr4:106375240-106375390	RPTEC	kidney:	n/a	n/a
48	CTCF	chr4:106362120-106362270	HPAF	blood vessel:	n/a	chr4:106362240-106362256 chr4:106362234-106362255
49	CTCF	chr4:106375060-106375210	GM12878	blood:	n/a	n/a
50	CTCF	chr4:106375000-106375150	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:106365358..106367179-chr4:106393714..106396003,2	MCF-7	breast:
2	chr4:106362935..106364734-chr4:106393574..106395649,2	K562	blood:
3	chr4:106372883..106374726-chr4:106394251..106396237,2	MCF-7	breast:
4	chr4:106355071..106357456-chr4:106372539..106374693,2	K562	blood:
5	chr4:106367022..106369880-chr4:106393183..106396480,3	K562	blood:
6	chr4:106365210..106367953-chr4:106377715..106379530,2	MCF-7	breast:
7	chr4:106368296..106371376-chr4:106372704..106375922,3	K562	blood:
8	chr4:106354166..106355972-chr4:106386471..106389222,2	K562	blood:
9	chr4:106372212..106374877-chr4:106385013..106387796,2	K562	blood:
10	chr4:106362358..106365940-chr4:106392957..106394904,3	MCF-7	breast:
11	chr4:106354505..106356788-chr4:106358745..106361316,2	K562	blood:
12	chr4:106361557..106363755-chr4:106371122..106372722,2	K562	blood:
13	chr4:106368296..106371376-chr4:106372704..106375922,3	K562	blood:
14	chr4:106368037..106370559-chr4:106393297..106395424,2	MCF-7	breast:
15	chr4:106355071..106357456-chr4:106372539..106374693,2	K562	blood:
16	chr4:106366716..106368636-chr4:106386023..106388059,2	K562	blood:
17	chr4:106361657..106363755-chr4:106371118..106372722,2	K562	blood:
18	chr4:106361657..106363755-chr4:106371118..106372722,2	K562	blood:
19	chr4:106354505..106356788-chr4:106358745..106361316,2	K562	blood:
20	chr4:106375361..106377809-chr4:106379253..106381049,2	K562	blood:
21	chr4:106068073..106070756-chr4:106374614..106376801,2	MCF-7	breast:
22	chr4:106361557..106363755-chr4:106371122..106372722,2	K562	blood:
23	chr4:106351251..106353163-chr4:106388655..106390635,2	K562	blood:

Variant related genes	Relation type
PPA2	TF binding region
ENSG00000168769	chromatin interactions
ENSG00000138777	chromatin interactions

Extended variants
information (count: 954 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112110496	chr4:106351533-106351534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73836207	chr4:106351561-106351562	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547272859	chr4:106351566-106351567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114304083	chr4:106351571-106351572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538496166	chr4:106351591-106351592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183950026	chr4:106351609-106351610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148336498	chr4:106351650-106351651	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1126066	chr4:106351651-106351652	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs189117381	chr4:106351661-106351662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371445852	chr4:106351665-106351666	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545264022	chr4:106351717-106351718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528193688	chr4:106351816-106351817	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551633650	chr4:106351818-106351819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140544517	chr4:106351822-106351823	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182508495	chr4:106351849-106351850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35410732	chr4:106351860-106351861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531100152	chr4:106351887-106351888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551301204	chr4:106351895-106351896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567645645	chr4:106351927-106351928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536680412	chr4:106351946-106351947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71584299	chr4:106351952-106351953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111983999	chr4:106351957-106351958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547034756	chr4:106351968-106351969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572124787	chr4:106352023-106352024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566946074	chr4:106352053-106352054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2636739	chr4:106352105-106352106	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs145803427	chr4:106352122-106352123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138453332	chr4:106352166-106352167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143082727	chr4:106352184-106352185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187310968	chr4:106352240-106352241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74333325	chr4:106352312-106352313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548642468	chr4:106352335-106352336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7673368	chr4:106352358-106352359	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs115885202	chr4:106352394-106352395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533467743	chr4:106352423-106352424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572560277	chr4:106352439-106352440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146172305	chr4:106352443-106352444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137889019	chr4:106352450-106352451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373875985	chr4:106352461-106352462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149464949	chr4:106352522-106352523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190461889	chr4:106352627-106352628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561532426	chr4:106352641-106352642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530441615	chr4:106352653-106352654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546972602	chr4:106352700-106352701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566881416	chr4:106352725-106352726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532491278	chr4:106352742-106352743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555167355	chr4:106352755-106352756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552687272	chr4:106352845-106352846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181554437	chr4:106352866-106352867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115081976	chr4:106352938-106352939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106287600-106357000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr4:106321400-106367200	Weak transcription	HUVEC	blood vessel
3	chr4:106321600-106356200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:106321800-106353600	Weak transcription	HMEC	breast
5	chr4:106323600-106372800	Weak transcription	Stomach Mucosa	stomach
6	chr4:106326000-106356400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:106326000-106356600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:106326000-106363200	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:106327200-106365200	Weak transcription	Osteobl	bone
10	chr4:106327200-106389200	Weak transcription	Small Intestine	intestine
11	chr4:106327200-106390600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:106330600-106356400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:106336600-106356400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:106336800-106376400	Weak transcription	Right Ventricle	heart
15	chr4:106336800-106387800	Weak transcription	NHLF	lung
16	chr4:106337000-106354400	Weak transcription	Left Ventricle	heart
17	chr4:106337000-106354600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:106337200-106356600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:106340200-106387800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:106341600-106376000	Weak transcription	Fetal Heart	heart
21	chr4:106343200-106363000	Weak transcription	Psoas Muscle	Psoas
22	chr4:106344000-106363800	Weak transcription	HepG2	liver
23	chr4:106344200-106352800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:106345200-106354400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:106345200-106354800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:106345200-106358800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:106346400-106354600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:106346600-106354200	Weak transcription	NH-A	brain
29	chr4:106346600-106369000	Weak transcription	Hela-S3	cervix
30	chr4:106347200-106366000	Weak transcription	NHDF-Ad	bronchial
31	chr4:106347600-106351600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:106347600-106355400	Weak transcription	K562	blood
33	chr4:106347600-106367600	Weak transcription	Fetal Brain Male	brain
34	chr4:106347600-106392800	Weak transcription	Colonic Mucosa	Colon
35	chr4:106347800-106352600	Weak transcription	A549	lung
36	chr4:106347800-106352800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:106347800-106354600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:106347800-106354800	Weak transcription	HSMM	muscle
39	chr4:106347800-106357200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:106347800-106362800	Weak transcription	Spleen	Spleen
41	chr4:106347800-106375200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:106348000-106351600	Weak transcription	Primary B cells from cord blood	blood
43	chr4:106348000-106351600	Weak transcription	Fetal Intestine Large	intestine
44	chr4:106348000-106354200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:106348000-106354400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:106348000-106354600	Weak transcription	NHEK	skin
47	chr4:106348000-106354800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:106348000-106356400	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:106348000-106356600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:106348000-106366000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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