Variant report

Variant	nsv550957
Chromosome Location	chr10:56234349-56287101
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	chr10:56237518-56237880	K562	blood:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
2	CEBPB	chr10:56255412-56255696	A549	lung:	n/a	chr10:56255576-56255587
3	CEBPB	chr10:56237523-56237874	HepG2	liver:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
4	CEBPB	chr10:56255402-56255747	HepG2	liver:	n/a	chr10:56255576-56255587
5	CEBPB	chr10:56237551-56237863	Hela-S3	cervix:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
6	CEBPB	chr10:56237599-56237861	ECC-1	luminal epithelium:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
7	CEBPB	chr10:56237521-56237900	H1-hESC	embryonic stem cell:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
8	CEBPB	chr10:56237520-56237876	IMR90	lung:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
9	CEBPB	chr10:56237556-56237775	A549	lung:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
10	CTCF	chr10:56245983-56245998	Spleen_OC	spleen:	n/a	n/a
11	E2F4	chr10:56271686-56271852	MCF10A-Er-Src	breast:	n/a	n/a
12	EBF1	chr10:56243914-56244319	GM12878	blood:	n/a	chr10:56244093-56244103 chr10:56244093-56244102
13	EBF1	chr10:56268927-56269162	GM12878	blood:	n/a	chr10:56269070-56269081
14	ELK1	chr10:56243977-56243990	GM12878	blood:	n/a	n/a
15	EP300	chr10:56251301-56251319	Hela-S3	cervix:	n/a	n/a
16	FOXA1	chr10:56275090-56275367	HepG2	liver:	n/a	n/a
17	FOXA1	chr10:56275064-56275360	HepG2	liver:	n/a	n/a
18	FOXA1	chr10:56275092-56275346	HepG2	liver:	n/a	n/a
19	FOXA1	chr10:56275107-56275279	T-47D	breast:	n/a	n/a
20	FOXA1	chr10:56275086-56275300	HepG2	liver:	n/a	n/a
21	FOXA2	chr10:56275125-56275272	HepG2	liver:	n/a	n/a
22	FOXA2	chr10:56274923-56275413	A549	lung:	n/a	n/a
23	GATA3	chr10:56251982-56252054	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr10:56261680-56262139	MCF-7	breast:	n/a	n/a
25	JUN	chr10:56254353-56254502	K562	blood:	n/a	n/a
26	JUN	chr10:56281915-56282139	HepG2	liver:	n/a	chr10:56281995-56282008
27	MAFF	chr10:56282769-56282953	HepG2	liver:	n/a	chr10:56282872-56282890
28	MAFK	chr10:56247545-56247825	IMR90	lung:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
29	MAFK	chr10:56247516-56247828	HepG2	liver:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
30	MAFK	chr10:56247535-56247784	Hela-S3	cervix:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
31	MAFK	chr10:56247569-56247774	K562	blood:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
32	MAFK	chr10:56282733-56283004	HepG2	liver:	n/a	chr10:56282877-56282888 chr10:56282877-56282888 chr10:56282873-56282889 chr10:56282878-56282889 chr10:56282878-56282889 chr10:56282876-56282890
33	MAFK	chr10:56247544-56247782	HepG2	liver:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
34	MYC	chr10:56250759-56250801	K562	blood:	n/a	n/a
35	POLR2A	chr10:56267036-56267313	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr10:56263776-56263887	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr10:56237918-56237950	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr10:56256869-56256894	A549	lung:	n/a	n/a
39	POLR2A	chr10:56252783-56252839	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:56281226-56281261	MCF10A-Er-Src	breast:	n/a	n/a
41	SPI1	chr10:56258568-56258869	HL-60	blood:	n/a	n/a
42	STAT3	chr10:56286796-56287200	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr10:56266752-56267061	MCF10A-Er-Src	breast:	n/a	n/a
44	WRNIP1	chr10:56269202-56269456	GM12878	blood:	n/a	n/a
45	ZNF143	chr10:56246572-56246893	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:56242648..56244262-chr10:56246298..56248916,2	MCF-7	breast:
2	chr10:56255140..56257501-chr10:56263291..56266087,2	K562	blood:
3	chr10:56242648..56244262-chr10:56246298..56248916,2	MCF-7	breast:
4	chr10:56255140..56257501-chr10:56263291..56266087,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-4	chr10:56245990-56246076	ENSG00000234173.1
2	lnc-MTRNR2L5-4	chr10:56245990-56246076	NONHSAT013457

Variant related genes	Relation type
ENSG00000234173	TF binding region

Extended variants
information (count: 263 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10825335	chr10:56234349-56234350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532159557	chr10:56234359-56234360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142934564	chr10:56234434-56234435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186270950	chr10:56234460-56234461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543193801	chr10:56234517-56234518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11004329	chr10:56234579-56234580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191562889	chr10:56234623-56234624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540828533	chr10:56234645-56234646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11597973	chr10:56234660-56234661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560033118	chr10:56234662-56234663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532193934	chr10:56234682-56234683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77577016	chr10:56234684-56234685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545485708	chr10:56234710-56234711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562477009	chr10:56234717-56234718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369742204	chr10:56234739-56234740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12763909	chr10:56234755-56234756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78279280	chr10:56234757-56234758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117817434	chr10:56234778-56234779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112903250	chr10:56234804-56234805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527529068	chr10:56234843-56234844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565402682	chr10:56234906-56234907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547179780	chr10:56234923-56234924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566859651	chr10:56234934-56234935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539073320	chr10:56234962-56234963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558698989	chr10:56234995-56234996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139024601	chr10:56234996-56234997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538224224	chr10:56235005-56235006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36015797	chr10:56235025-56235026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532673429	chr10:56235031-56235032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373317379	chr10:56235044-56235045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555351171	chr10:56235045-56235046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550912667	chr10:56235091-56235092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540841071	chr10:56235112-56235113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554296752	chr10:56235136-56235137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9415337	chr10:56235156-56235157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545851057	chr10:56235176-56235177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117498417	chr10:56235193-56235194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141560205	chr10:56235242-56235243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183389555	chr10:56235254-56235255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561688093	chr10:56235309-56235310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527541111	chr10:56235367-56235368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76517866	chr10:56235486-56235487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12265334	chr10:56235525-56235526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187162465	chr10:56235529-56235530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532512537	chr10:56235570-56235571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552671225	chr10:56235635-56235636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553581012	chr10:56235742-56235743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567432094	chr10:56235764-56235765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373818298	chr10:56235788-56235789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569372999	chr10:56235795-56235796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56233800-56234400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr10:56233800-56234600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr10:56234000-56234400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr10:56234000-56234400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr10:56234000-56234600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr10:56234000-56234800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:56234400-56237200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:56234400-56237800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr10:56234400-56238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:56234600-56236600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr10:56234600-56238400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr10:56234800-56237800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr10:56236600-56238800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr10:56237200-56238800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:56237800-56238800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr10:56237800-56238800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr10:56238200-56238400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:56238200-56238600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:56238200-56238800	Enhancers	Brain Germinal Matrix	brain
20	chr10:56238400-56238600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr10:56238400-56238800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr10:56240000-56240200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:56243600-56244200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:56244200-56245400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr10:56245800-56246000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr10:56256600-56257000	Enhancers	Spleen	Spleen
27	chr10:56262000-56262400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links