Variant report

Variant	nsv895565
Chromosome Location	chr10:61347537-61379398
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	chr10:61359663-61359844	A549	lung:	n/a	chr10:61359725-61359736 chr10:61359726-61359737 chr10:61359725-61359738
2	CEBPB	chr10:61370858-61371111	MCF-7	breast:	n/a	n/a
3	CEBPB	chr10:61370857-61371057	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr10:61368449-61368599	K562	blood:	n/a	n/a
5	CEBPB	chr10:61368348-61369071	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr10:61359688-61359847	HepG2	liver:	n/a	chr10:61359725-61359736 chr10:61359726-61359737 chr10:61359725-61359738
7	CEBPB	chr10:61366212-61366614	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr10:61364280-61364430	HepG2	liver:	n/a	n/a
9	CTCF	chr10:61364320-61364470	Caco-2	colon:	n/a	n/a
10	CTCF	chr10:61364300-61364450	HepG2	liver:	n/a	n/a
11	CTCF	chr10:61375600-61375750	A549	lung:	n/a	n/a
12	CTCF	chr10:61370820-61370970	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr10:61368260-61368410	NHEK	skin:	n/a	n/a
14	CTCF	chr10:61364260-61364410	GM12871	blood:	n/a	n/a
15	CTCF	chr10:61368297-61368398	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr10:61368280-61368430	HMF	breast:	n/a	n/a
17	CTCF	chr10:61375660-61375810	GM12871	blood:	n/a	n/a
18	CTCF	chr10:61364300-61364450	GM06990	blood:	n/a	n/a
19	CTCF	chr10:61364330-61364462	K562	blood:	n/a	n/a
20	CTCF	chr10:61364280-61364430	GM12875	blood:	n/a	n/a
21	CTCF	chr10:61364420-61364570	GM12868	blood:	n/a	n/a
22	CTCF	chr10:61368300-61368450	Caco-2	colon:	n/a	n/a
23	CTCF	chr10:61368140-61368290	GM12873	blood:	n/a	n/a
24	CTCF	chr10:61364300-61364450	GM12869	blood:	n/a	n/a
25	CTCF	chr10:61364344-61364468	HepG2	liver:	n/a	n/a
26	CTCF	chr10:61348760-61348910	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr10:61364320-61364555	GM12878	blood:	n/a	n/a
28	CTCF	chr10:61368300-61368450	NHEK	skin:	n/a	n/a
29	CTCF	chr10:61374719-61374824	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr10:61371340-61371490	GM12868	blood:	n/a	n/a
31	CTCF	chr10:61368320-61368470	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr10:61364313-61364487	HepG2	liver:	n/a	n/a
33	CUX1	chr10:61377852-61377874	K562	blood:	n/a	n/a
34	E2F4	chr10:61368603-61368845	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr10:61366126-61366472	MCF10A-Er-Src	breast:	n/a	n/a
36	ELF1	chr10:61364323-61364607	K562	blood:	n/a	chr10:61364498-61364511
37	EP300	chr10:61359583-61360107	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr10:61355362-61355729	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr10:61361774-61362077	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr10:61361694-61362120	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr10:61366171-61366686	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr10:61355411-61355782	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr10:61366253-61366569	Hela-S3	cervix:	n/a	n/a
44	EP300	chr10:61366120-61366692	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr10:61368410-61368853	Hela-S3	cervix:	n/a	n/a
46	EP300	chr10:61365821-61367304	SK-N-SH	brain:	n/a	n/a
47	EP300	chr10:61359653-61360154	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr10:61349570-61349863	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr10:61366067-61366808	SK-N-SH	brain:	n/a	n/a
50	FOS	chr10:61366207-61366602	MCF10A-Er-Src	breast:	n/a	chr10:61366400-61366411 chr10:61366397-61366409 chr10:61366397-61366408 chr10:61366402-61366414 chr10:61366399-61366407 chr10:61366402-61366409

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:61363138..61365267-chr10:61366701..61368651,2	K562	blood:
2	chr10:61363138..61365267-chr10:61366701..61368651,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHYHIPL-3	chr10:61356083-61356179	ENSG00000235140
2	lnc-PHYHIPL-3	chr10:61348908-61349129	ENSG00000235140
3	lnc-PHYHIPL-3	chr10:61354710-61354809	ENSG00000235140
4	lnc-PHYHIPL-3	chr10:61370889-61371006	ENSG00000235140

Variant related genes	Relation type
ENSG00000235140	TF binding region

Extended variants
information (count: 1218 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1218 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11598299	chr10:61347537-61347538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117936834	chr10:61347563-61347564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558171339	chr10:61347688-61347689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576721519	chr10:61347754-61347755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77329441	chr10:61347766-61347767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543831091	chr10:61347773-61347774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545018894	chr10:61347781-61347782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555834520	chr10:61347847-61347848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182375086	chr10:61347848-61347849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374866051	chr10:61347849-61347850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186988675	chr10:61347937-61347938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574162565	chr10:61347961-61347962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140613443	chr10:61347965-61347966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145670907	chr10:61347980-61347981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376772640	chr10:61347998-61347999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191431948	chr10:61348009-61348010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373854113	chr10:61348018-61348019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559507205	chr10:61348025-61348026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375841655	chr10:61348032-61348033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183571311	chr10:61348037-61348038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568879966	chr10:61348044-61348045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373802092	chr10:61348067-61348068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539504669	chr10:61348084-61348085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561400769	chr10:61348108-61348109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138233481	chr10:61348112-61348113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534539500	chr10:61348121-61348122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560257143	chr10:61348126-61348127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142738610	chr10:61348202-61348203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150610282	chr10:61348228-61348229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12218834	chr10:61348241-61348242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1909636	chr10:61348257-61348258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs578063822	chr10:61348274-61348275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188881379	chr10:61348291-61348292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193227450	chr10:61348364-61348365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564219556	chr10:61348366-61348367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201382151	chr10:61348393-61348394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111814610	chr10:61348455-61348456	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs572096024	chr10:61348500-61348501	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs138669014	chr10:61348528-61348529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11006592	chr10:61348548-61348549	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530447375	chr10:61348608-61348609	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs149322632	chr10:61348628-61348629	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs57834926	chr10:61348650-61348651	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1909635	chr10:61348668-61348669	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs376581152	chr10:61348676-61348677	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533108435	chr10:61348690-61348691	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs10763611	chr10:61348695-61348696	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566532540	chr10:61348728-61348729	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs4601718	chr10:61348744-61348745	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs373538750	chr10:61348748-61348749	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
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
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61340200-61349400	Weak transcription	Fetal Stomach	stomach
2	chr10:61345400-61347800	Enhancers	Esophagus	oesophagus
3	chr10:61345400-61348000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:61345400-61348400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr10:61345600-61349200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:61345600-61353400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:61346000-61347800	Enhancers	NHEK	skin
8	chr10:61346600-61347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:61346600-61347800	Enhancers	HMEC	breast
10	chr10:61346600-61348000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:61347200-61347600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:61347400-61347600	Enhancers	Brain Anterior Caudate	brain
13	chr10:61347400-61347800	Enhancers	Ovary	ovary
14	chr10:61347800-61349400	Weak transcription	NHEK	skin
15	chr10:61348400-61351200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:61349200-61349800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:61349400-61349600	Enhancers	Fetal Muscle Leg	muscle
18	chr10:61349400-61349600	Enhancers	Fetal Stomach	stomach
19	chr10:61349400-61349600	Enhancers	NHEK	skin
20	chr10:61350800-61351800	Enhancers	Pancreas	Pancrea
21	chr10:61351200-61351800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr10:61351800-61352600	Weak transcription	Pancreas	Pancrea
23	chr10:61351800-61352800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr10:61352600-61352800	Enhancers	Pancreas	Pancrea
25	chr10:61352800-61354400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr10:61353400-61353600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:61353400-61353800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr10:61353800-61354800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:61354800-61355000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr10:61355000-61356000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:61355000-61356000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:61355000-61356000	Enhancers	Colon Smooth Muscle	Colon
33	chr10:61355200-61356000	Enhancers	Hela-S3	cervix
34	chr10:61355200-61356400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:61355400-61355600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:61355400-61355800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:61355600-61366800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr10:61361000-61362000	Enhancers	Placenta	Placenta
39	chr10:61362000-61368600	Weak transcription	Placenta	Placenta
40	chr10:61365000-61365200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr10:61366000-61366600	Enhancers	Fetal Brain Male	brain
42	chr10:61366000-61367000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:61366000-61367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:61366000-61367400	Enhancers	Brain Germinal Matrix	brain
45	chr10:61366200-61366600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr10:61366200-61366600	Enhancers	HSMMtube	muscle
47	chr10:61366200-61366600	Enhancers	NH-A	brain
48	chr10:61366200-61366800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:61366200-61366800	Enhancers	Fetal Heart	heart
50	chr10:61366200-61367000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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