Variant report

Variant	nsv523436
Chromosome Location	chr10:55198707-55252076
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	ATF2	chr10:55238974-55239521	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr10:55236413-55237624	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr10:55217223-55217233	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr10:55239200-55239377	H1-hESC	embryonic stem cell:	n/a	chr10:55239353-55239362
5	BCL11A	chr10:55239117-55239415	H1-hESC	embryonic stem cell:	n/a	chr10:55239353-55239362
6	BRCA1	chr10:55236620-55237424	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr10:55239096-55239406	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr10:55250388-55250668	H1-hESC	embryonic stem cell:	n/a	chr10:55250515-55250526 chr10:55250495-55250506
9	CEBPB	chr10:55250346-55250673	IMR90	lung:	n/a	chr10:55250515-55250526 chr10:55250495-55250506
10	CEBPB	chr10:55250389-55250679	Hela-S3	cervix:	n/a	chr10:55250515-55250526 chr10:55250495-55250506
11	CEBPB	chr10:55239054-55239539	H1-hESC	embryonic stem cell:	n/a	chr10:55239464-55239475 chr10:55239371-55239383
12	CEBPB	chr10:55250331-55250691	HepG2	liver:	n/a	chr10:55250515-55250526 chr10:55250495-55250506
13	CEBPB	chr10:55250334-55250666	K562	blood:	n/a	chr10:55250515-55250526 chr10:55250495-55250506
14	CEBPB	chr10:55233744-55234036	HepG2	liver:	n/a	chr10:55233869-55233880
15	CEBPB	chr10:55250360-55250591	A549	lung:	n/a	chr10:55250515-55250526 chr10:55250495-55250506
16	CHD1	chr10:55236611-55237504	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr10:55239006-55239395	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr10:55238997-55239826	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr10:55213120-55213270	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr10:55212740-55212890	SAEC	small airway:	n/a	n/a
21	CTCF	chr10:55213060-55213210	HA-sp	spinal cord:	n/a	chr10:55213102-55213110
22	CTCF	chr10:55213120-55213270	AG04450	lung:	n/a	n/a
23	CTCF	chr10:55213060-55213210	HRPEpiC	eye:	n/a	chr10:55213102-55213110
24	CTCF	chr10:55213100-55213250	GM12868	blood:	n/a	chr10:55213102-55213110
25	CTCF	chr10:55213060-55213210	SAEC	small airway:	n/a	chr10:55213102-55213110
26	CTCF	chr10:55213142-55213181	MCF-7	breast:	n/a	n/a
27	CTCF	chr10:55213093-55213215	LNCaP	prostate:	n/a	chr10:55213102-55213110
28	CTCF	chr10:55213085-55213241	Hela-S3	cervix:	n/a	chr10:55213102-55213110
29	CTCF	chr10:55213120-55213270	NHEK	skin:	n/a	n/a
30	CTCF	chr10:55213000-55213150	HMEC	breast:	n/a	chr10:55213102-55213110
31	CTCF	chr10:55213080-55213230	GM12878	blood:	n/a	chr10:55213102-55213110
32	CTCF	chr10:55213080-55213230	A549	lung:	n/a	chr10:55213102-55213110
33	CTCF	chr10:55213120-55213270	BE2_C	brain:	n/a	n/a
34	CTCF	chr10:55213060-55213210	AG04450	lung:	n/a	chr10:55213102-55213110
35	CTCF	chr10:55213060-55213210	GM12871	blood:	n/a	chr10:55213102-55213110
36	CTCF	chr10:55213100-55213250	HRE	kidney:	n/a	chr10:55213102-55213110
37	CTCF	chr10:55213120-55213270	GM06990	blood:	n/a	n/a
38	CTCF	chr10:55213049-55213215	SK-N-SH_RA	brain:	n/a	chr10:55213102-55213110
39	CTCF	chr10:55213077-55213241	GM12878	blood:	n/a	chr10:55213102-55213110
40	CTCF	chr10:55213100-55213250	BE2_C	brain:	n/a	chr10:55213102-55213110
41	CTCF	chr10:55213100-55213250	SK-N-SH_RA	brain:	n/a	chr10:55213102-55213110
42	CTCF	chr10:55212932-55213345	MCF-7	breast:	n/a	chr10:55213102-55213110
43	CTCF	chr10:55213097-55213196	GM10266	blood:	n/a	chr10:55213102-55213110
44	CTCF	chr10:55213142-55213163	K562	blood:	n/a	n/a
45	CTCF	chr10:55249400-55249550	BE2_C	brain:	n/a	n/a
46	CTCF	chr10:55213120-55213270	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr10:55213063-55213254	HUVEC	blood vessel:	n/a	chr10:55213102-55213110
48	CTCF	chr10:55213040-55213190	SAEC	small airway:	n/a	chr10:55213102-55213110
49	CTCF	chr10:55213000-55213150	HEEpiC	esophagus:	n/a	chr10:55213102-55213110
50	CTCF	chr10:55213080-55213230	HepG2	liver:	n/a	chr10:55213102-55213110

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:55228435..55230987-chr10:55235490..55236993,2	K562	blood:
2	chr10:55228435..55230987-chr10:55235490..55236993,2	K562	blood:

Variant related genes	Relation type
RNA5SP318	TF binding region

Extended variants
information (count: 2065 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2065 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs405588	chr10:55198707-55198708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567085163	chr10:55198719-55198720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536063257	chr10:55198730-55198731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs429116	chr10:55198751-55198752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573096177	chr10:55198765-55198766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541400876	chr10:55198806-55198807	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565828355	chr10:55198808-55198809	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7085036	chr10:55198824-55198825	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554607439	chr10:55198846-55198847	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543901123	chr10:55198862-55198863	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs137884794	chr10:55198885-55198886	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs529461128	chr10:55198897-55198898	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542897866	chr10:55198899-55198900	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs559982906	chr10:55198902-55198903	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528813126	chr10:55198920-55198921	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552075838	chr10:55198942-55198943	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570877938	chr10:55198984-55198985	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149493707	chr10:55199019-55199020	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537019114	chr10:55199036-55199037	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567070174	chr10:55199067-55199068	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368211616	chr10:55199110-55199111	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188960455	chr10:55199113-55199114	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546512097	chr10:55199114-55199115	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs75175453	chr10:55199163-55199164	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs538528224	chr10:55199166-55199167	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143931407	chr10:55199167-55199168	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534986248	chr10:55199193-55199194	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369642728	chr10:55199209-55199210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181760052	chr10:55199217-55199218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537443660	chr10:55199241-55199242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs454049	chr10:55199259-55199260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs428623	chr10:55199331-55199332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543188707	chr10:55199356-55199357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186339246	chr10:55199363-55199364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368363019	chr10:55199368-55199369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545257104	chr10:55199374-55199375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116578610	chr10:55199377-55199378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75644279	chr10:55199383-55199384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550202890	chr10:55199392-55199393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545224417	chr10:55199403-55199404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189610118	chr10:55199438-55199439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148140356	chr10:55199439-55199440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180789417	chr10:55199444-55199445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10825023	chr10:55199473-55199474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs538835109	chr10:55199517-55199518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552453068	chr10:55199523-55199524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141922118	chr10:55199524-55199525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146119587	chr10:55199552-55199553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150334031	chr10:55199574-55199575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557422397	chr10:55199593-55199594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Dysmorphic features	21948486	CNVD
Epilepsy	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55182400-55200400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:55184600-55200600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:55186000-55206600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:55190600-55199200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr10:55195200-55198800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr10:55198600-55199400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:55198600-55199400	Enhancers	Fetal Kidney	kidney
8	chr10:55198800-55199200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:55198800-55199200	Enhancers	Placenta	Placenta
10	chr10:55198800-55199200	Active TSS	Fetal Stomach	stomach
11	chr10:55198800-55199400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr10:55198800-55199400	Enhancers	Fetal Heart	heart
13	chr10:55199200-55199400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr10:55199200-55199600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:55199400-55200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr10:55199400-55206800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr10:55200400-55200800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:55200600-55200800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:55200600-55200800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr10:55200800-55201200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:55200800-55206200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:55201200-55201400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:55201400-55206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:55205400-55205800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr10:55205800-55208000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr10:55205800-55208200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:55206000-55206600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:55206200-55208000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:55206600-55207800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr10:55206600-55207800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:55206600-55207800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chr10:55206600-55208000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr10:55206600-55208400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr10:55206800-55207800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr10:55206800-55208200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr10:55207200-55207800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:55207400-55208000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr10:55207800-55208000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr10:55208000-55208200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr10:55208000-55209800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr10:55208000-55211600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:55208200-55213000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:55212600-55213000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr10:55213000-55213600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr10:55213200-55213600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:55213200-55221200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr10:55213600-55214000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr10:55213600-55222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr10:55214000-55214200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:55214200-55217600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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