Variant report

Variant	nsv895373
Chromosome Location	chr10:49911737-49933488
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	CEBPB	chr10:49924423-49924618	A549	lung:	n/a	n/a
2	CEBPB	chr10:49924398-49924506	HepG2	liver:	n/a	n/a
3	CEBPB	chr10:49924397-49924549	K562	blood:	n/a	n/a
4	CEBPB	chr10:49922071-49922254	K562	blood:	n/a	n/a
5	CTCF	chr10:49924593-49924698	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr10:49924440-49924590	GM12871	blood:	n/a	n/a
7	CTCF	chr10:49924520-49924670	GM12868	blood:	n/a	n/a
8	CTCF	chr10:49924600-49924750	GM12866	blood:	n/a	n/a
9	CTCF	chr10:49924600-49924750	HEK293	kidney:	n/a	n/a
10	CTCF	chr10:49924480-49924630	GM12865	blood:	n/a	n/a
11	CTCF	chr10:49924614-49924688	GM10248	blood:	n/a	n/a
12	CTCF	chr10:49924540-49924690	NB4	blood:	n/a	n/a
13	CTCF	chr10:49924580-49924730	GM12870	blood:	n/a	n/a
14	CTCF	chr10:49924560-49924710	GM12869	blood:	n/a	n/a
15	CTCF	chr10:49932180-49932249	LNCaP	prostate:	n/a	n/a
16	CTCF	chr10:49924560-49924710	GM12864	blood:	n/a	n/a
17	CTCF	chr10:49924620-49924770	GM12873	blood:	n/a	n/a
18	CTCF	chr10:49924600-49924750	GM12878	blood:	n/a	n/a
19	CTCF	chr10:49924580-49924730	GM12875	blood:	n/a	n/a
20	CTCF	chr10:49924480-49924630	GM12872	blood:	n/a	n/a
21	CTCF	chr10:49924620-49924770	GM12865	blood:	n/a	n/a
22	CTCF	chr10:49924620-49924770	GM12874	blood:	n/a	n/a
23	CTCF	chr10:49924560-49924710	HEK293	kidney:	n/a	n/a
24	CTCF	chr10:49924500-49924650	GM12872	blood:	n/a	n/a
25	CTCF	chr10:49924540-49924690	GM12871	blood:	n/a	n/a
26	CTCF	chr10:49926780-49926930	GM06990	blood:	n/a	n/a
27	CTCF	chr10:49924560-49924710	GM12873	blood:	n/a	n/a
28	CTCF	chr10:49924500-49924650	GM12873	blood:	n/a	n/a
29	CTCF	chr10:49924560-49924710	GM12872	blood:	n/a	n/a
30	CTCF	chr10:49924560-49924710	GM12867	blood:	n/a	n/a
31	CTCF	chr10:49914040-49914190	GM12875	blood:	n/a	n/a
32	CUX1	chr10:49913655-49913752	GM12878	blood:	n/a	n/a
33	ELF1	chr10:49932037-49932299	K562	blood:	n/a	chr10:49932146-49932159 chr10:49932147-49932158 chr10:49932148-49932157 chr10:49932147-49932158
34	ELK1	chr10:49913671-49913820	GM12878	blood:	n/a	n/a
35	EP300	chr10:49913671-49913785	GM12878	blood:	n/a	n/a
36	FOS	chr10:49929718-49929918	MCF10A-Er-Src	breast:	n/a	chr10:49929829-49929840
37	FOS	chr10:49929677-49929904	MCF10A-Er-Src	breast:	n/a	chr10:49929829-49929840
38	FOS	chr10:49929652-49929982	MCF10A-Er-Src	breast:	n/a	chr10:49929829-49929840
39	FOS	chr10:49929701-49929888	MCF10A-Er-Src	breast:	n/a	chr10:49929829-49929840
40	HEY1	chr10:49932004-49932368	K562	blood:	n/a	n/a
41	HNF4A	chr10:49930366-49930641	HepG2	liver:	n/a	n/a
42	HNF4A	chr10:49930301-49930560	HepG2	liver:	n/a	n/a
43	JUND	chr10:49916349-49916499	K562	blood:	n/a	n/a
44	MAX	chr10:49930058-49930634	HepG2	liver:	n/a	n/a
45	MAX	chr10:49930247-49930417	HepG2	liver:	n/a	n/a
46	MAX	chr10:49922049-49922550	NB4	blood:	n/a	n/a
47	MAX	chr10:49916312-49916488	H1-hESC	embryonic stem cell:	n/a	chr10:49916348-49916357 chr10:49916346-49916359 chr10:49916348-49916357 chr10:49916347-49916358
48	MAX	chr10:49932351-49932415	NB4	blood:	n/a	chr10:49932369-49932379
49	MAZ	chr10:49913701-49913904	GM12878	blood:	n/a	chr10:49913792-49913800
50	MAZ	chr10:49930267-49930464	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49926635..49928509-chr10:49930502..49932684,2	MCF-7	breast:
2	chr10:49905425..49907287-chr10:49911171..49913733,2	MCF-7	breast:
3	chr10:49918859..49921517-chr10:49927615..49930107,2	MCF-7	breast:
4	chr10:49918859..49921517-chr10:49927615..49930107,2	MCF-7	breast:
5	chr10:49912829..49914750-chr10:49915625..49918084,2	K562	blood:
6	chr10:49513635..49516627-chr10:49929396..49931830,2	K562	blood:
7	chr10:49929489..49931426-chr10:49940435..49943259,2	K562	blood:
8	chr10:49926635..49928509-chr10:49930502..49932684,2	MCF-7	breast:
9	chr10:49906264..49908604-chr10:49911628..49913491,2	MCF-7	breast:
10	chr10:49907771..49909890-chr10:49911982..49914593,2	K562	blood:

Variant related genes	Relation type
WDFY4	TF binding region
ENSG00000128815	chromatin interactions
ENSG00000107643	chromatin interactions

Extended variants
information (count: 902 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:902 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2377623	chr10:49911737-49911738	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530751684	chr10:49911738-49911739	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531946965	chr10:49911767-49911768	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560581266	chr10:49911823-49911824	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528161037	chr10:49911856-49911857	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs118010952	chr10:49911864-49911865	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34527155	chr10:49911882-49911883	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35325151	chr10:49911902-49911903	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533523755	chr10:49911912-49911913	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552013567	chr10:49911965-49911966	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184453243	chr10:49911984-49911985	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537788970	chr10:49912020-49912021	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549383538	chr10:49912055-49912056	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567616312	chr10:49912056-49912057	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115710505	chr10:49912059-49912060	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553384322	chr10:49912085-49912086	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578039532	chr10:49912090-49912091	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565593102	chr10:49912099-49912100	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12258201	chr10:49912102-49912103	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556782290	chr10:49912116-49912117	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575171674	chr10:49912128-49912129	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542551048	chr10:49912183-49912184	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189532972	chr10:49912194-49912195	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs137856099	chr10:49912219-49912220	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs181591631	chr10:49912224-49912225	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs143735892	chr10:49912245-49912246	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs147209458	chr10:49912249-49912250	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs552001194	chr10:49912250-49912251	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs140525911	chr10:49912308-49912309	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs531144443	chr10:49912313-49912314	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs368507292	chr10:49912346-49912347	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs549670198	chr10:49912347-49912348	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs185793224	chr10:49912353-49912354	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs149726369	chr10:49912355-49912356	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs116955628	chr10:49912432-49912433	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs571709567	chr10:49912453-49912454	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs538772826	chr10:49912471-49912472	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs114975608	chr10:49912476-49912477	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs552323637	chr10:49912487-49912488	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs191093111	chr10:49912519-49912520	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs10857623	chr10:49912520-49912521	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11594765	chr10:49912521-49912522	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573065447	chr10:49912610-49912611	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs540216233	chr10:49912643-49912644	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs181990833	chr10:49912644-49912645	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs536926086	chr10:49912649-49912650	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs556932629	chr10:49912688-49912689	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs117272782	chr10:49912699-49912700	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs370908962	chr10:49912710-49912711	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs115916571	chr10:49912729-49912730	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49897000-49918200	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr10:49907400-49917800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:49907600-49911800	Weak transcription	Left Ventricle	heart
4	chr10:49907600-49912200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:49907800-49912000	Weak transcription	Right Ventricle	heart
6	chr10:49908200-49922800	Weak transcription	Spleen	Spleen
7	chr10:49909600-49912000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr10:49909600-49912200	Enhancers	Fetal Stomach	stomach
9	chr10:49909800-49912400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:49910000-49914000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:49910200-49913200	Enhancers	Fetal Lung	lung
12	chr10:49910600-49912200	Weak transcription	Esophagus	oesophagus
13	chr10:49910600-49912200	Weak transcription	Fetal Heart	heart
14	chr10:49910800-49912200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:49910800-49917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:49911000-49911800	Strong transcription	GM12878-XiMat	blood
17	chr10:49911000-49917800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:49911000-49917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:49911200-49912000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr10:49911400-49912000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr10:49911400-49913400	Enhancers	Placenta	Placenta
22	chr10:49911400-49913800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr10:49911400-49914200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:49911600-49912000	Weak transcription	Lung	lung
25	chr10:49911600-49912400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr10:49911600-49913400	Strong transcription	Primary B cells from cord blood	blood
27	chr10:49911800-49912600	Enhancers	Fetal Muscle Leg	muscle
28	chr10:49911800-49913000	Genic enhancers	GM12878-XiMat	blood
29	chr10:49911800-49913200	Enhancers	Left Ventricle	heart
30	chr10:49912000-49912600	Enhancers	Right Ventricle	heart
31	chr10:49912000-49912800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr10:49912000-49913200	Enhancers	Lung	lung
33	chr10:49912000-49913200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr10:49912200-49912400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr10:49912200-49912400	Enhancers	Duodenum Mucosa	Duodenum
36	chr10:49912200-49912600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:49912200-49912800	Enhancers	Esophagus	oesophagus
38	chr10:49912200-49913000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:49912200-49913000	Bivalent Enhancer	Fetal Stomach	stomach
40	chr10:49912200-49913800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr10:49912200-49916400	Enhancers	Fetal Heart	heart
42	chr10:49912400-49912600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
43	chr10:49912400-49913000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr10:49912400-49914000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr10:49912600-49913200	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr10:49912600-49914800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr10:49912600-49915200	Weak transcription	Right Ventricle	heart
48	chr10:49912800-49913000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr10:49913000-49913200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr10:49913000-49913400	Weak transcription	Monocytes-CD14+_RO01746	blood

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