Variant report

Variant	nsv975342
Chromosome Location	chr11:59203908-59237268
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	CCNT2	chr11:59206222-59206375	K562	blood:	n/a	n/a
2	CEBPB	chr11:59235653-59235832	K562	blood:	n/a	n/a
3	CTCF	chr11:59230700-59230850	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr11:59230713-59230783	GM19239	blood:	n/a	n/a
5	CTCF	chr11:59230685-59230829	Fibrobl	skin:	n/a	n/a
6	CTCF	chr11:59230659-59230860	Gliobla	brain:	n/a	n/a
7	CTCF	chr11:59230740-59230890	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr11:59230640-59230790	HepG2	liver:	n/a	n/a
9	CTCF	chr11:59230660-59230810	HEK293	kidney:	n/a	n/a
10	CTCF	chr11:59230699-59230841	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:59230700-59230850	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr11:59230714-59230777	HepG2	liver:	n/a	n/a
13	CTCF	chr11:59230660-59230810	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr11:59230679-59230747	Lung_OC	lung:	n/a	n/a
15	CTCF	chr11:59230680-59230830	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr11:59230680-59230830	HCT-116	colon:	n/a	n/a
17	CTCF	chr11:59230712-59230821	ProgFib	skin:	n/a	n/a
18	CTCF	chr11:59230760-59230910	GM12873	blood:	n/a	n/a
19	CTCF	chr11:59230620-59230770	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr11:59230580-59230730	HL-60	blood:	n/a	n/a
21	CTCF	chr11:59230640-59230790	HMF	breast:	n/a	n/a
22	CTCF	chr11:59230680-59230830	AG10803	skin:	n/a	n/a
23	CTCF	chr11:59230674-59230826	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr11:59230664-59230865	K562	blood:	n/a	n/a
25	CTCF	chr11:59230706-59230832	K562	blood:	n/a	n/a
26	CTCF	chr11:59230827-59230830	HUVEC	blood vessel:	n/a	n/a
27	E2F4	chr11:59210259-59210431	MCF10A-Er-Src	breast:	n/a	n/a
28	EGR1	chr11:59220730-59220898	K562	blood:	n/a	chr11:59220798-59220807 chr11:59220834-59220845 chr11:59220832-59220847
29	FOS	chr11:59230708-59231171	HUVEC	blood vessel:	n/a	chr11:59230981-59230989 chr11:59230981-59230988 chr11:59230980-59230990 chr11:59230981-59230989 chr11:59230979-59230990
30	FOS	chr11:59223863-59223913	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA2	chr11:59223139-59223310	HepG2	liver:	n/a	n/a
32	JUND	chr11:59225587-59225776	HepG2	liver:	n/a	chr11:59225628-59225639 chr11:59225629-59225638
33	MAFF	chr11:59214434-59214735	HepG2	liver:	n/a	chr11:59214605-59214623 chr11:59214604-59214618
34	MAFK	chr11:59214436-59214747	HepG2	liver:	n/a	chr11:59214603-59214619 chr11:59214604-59214618 chr11:59214608-59214617 chr11:59214601-59214621 chr11:59214607-59214617
35	MAFK	chr11:59214421-59214754	HepG2	liver:	n/a	chr11:59214603-59214619 chr11:59214604-59214618 chr11:59214608-59214617 chr11:59214601-59214621 chr11:59214607-59214617
36	MAFK	chr11:59214450-59214695	IMR90	lung:	n/a	chr11:59214603-59214619 chr11:59214604-59214618 chr11:59214608-59214617 chr11:59214601-59214621 chr11:59214607-59214617
37	MAX	chr11:59230643-59230843	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr11:59230596-59230795	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr11:59234977-59235051	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr11:59236407-59236513	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:59211388-59211508	Gliobla	brain:	n/a	n/a
42	POLR2A	chr11:59225076-59225250	A549	lung:	n/a	n/a
43	POLR2A	chr11:59225054-59225071	A549	lung:	n/a	n/a
44	POLR2A	chr11:59223679-59223689	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr11:59230606-59230874	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr11:59230591-59230875	H1-hESC	embryonic stem cell:	n/a	n/a
47	RCOR1	chr11:59210164-59210252	HepG2	liver:	n/a	n/a
48	SPI1	chr11:59232054-59232336	GM12891	blood:	n/a	n/a
49	SPI1	chr11:59232097-59232318	K562	blood:	n/a	n/a
50	SPI1	chr11:59232169-59232286	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:59210634-59210684	HRE	kidney:	n/a
2	chr11:59210634-59210684	LNCaP	prostate:	n/a
3	chr11:59224044-59224094	PANC-1	pancreas:	n/a
4	chr11:59223996-59224046	SKMC	muscle:	n/a
5	chr11:59224664-59224714	K562	blood:	n/a
6	chr11:59224044-59224094	A549	lung:	n/a
7	chr11:59210965-59211015	HMEC	breast:	n/a
8	chr11:59223996-59224046	HCF	heart:	n/a
9	chr11:59211431-59211481	PrEC	prostate:	n/a
10	chr11:59211431-59211481	HRCEpiC	kidney:	n/a
11	chr11:59209777-59209827	HMEC	breast:	n/a
12	chr11:59224664-59224714	AG09309	skin:	n/a
13	chr11:59209775-59209825	AG09319	gingival:	n/a
14	chr11:59224664-59224714	U87	brain:	n/a
15	chr11:59211431-59211481	Caco-2	colon:	n/a
16	chr11:59209775-59209825	HRE	kidney:	n/a
17	chr11:59224044-59224094	HNPCEpiC	eye:	n/a
18	chr11:59209775-59209825	HCM	heart:	n/a
19	chr11:59224044-59224094	GM06990	blood:	n/a
20	chr11:59224664-59224714	PFSK-1	brain:	n/a
21	chr11:59224044-59224094	NHBE	bronchial:	n/a
22	chr11:59211431-59211481	ECC-1	luminal epithelium:	n/a
23	chr11:59209775-59209825	GM06990	blood:	n/a
24	chr11:59210634-59210684	AoSMC	blood vessel:	n/a
25	chr11:59209777-59209827	AG09319	gingival:	n/a
26	chr11:59224664-59224714	LNCaP	prostate:	n/a
27	chr11:59224044-59224094	NHDF-neo	bronchial:	n/a
28	chr11:59209775-59209825	HCF	heart:	n/a
29	chr11:59224044-59224094	BJ	skin:	n/a
30	chr11:59210634-59210684	AG04450	lung:	fetal
31	chr11:59224664-59224714	HRE	kidney:	n/a
32	chr11:59210965-59211015	HCT-116	colon:	n/a
33	chr11:59210634-59210684	HNPCEpiC	eye:	n/a
34	chr11:59224044-59224094	PFSK-1	brain:	n/a
35	chr11:59223996-59224046	HRPEpiC	eye:	n/a
36	chr11:59209775-59209825	NH-A	brain:	n/a
37	chr11:59224044-59224094	Jurkat	blood:	n/a
38	chr11:59209775-59209825	Caco-2	colon:	n/a
39	chr11:59224664-59224714	HRPEpiC	eye:	n/a
40	chr11:59209775-59209825	BE2_C	brain:	n/a
41	chr11:59210634-59210684	CMK	blood:	n/a
42	chr11:59210634-59210684	PrEC	prostate:	n/a
43	chr11:59210965-59211015	Hepatocyte	liver:	n/a
44	chr11:59210965-59211015	AoSMC	blood vessel:	n/a
45	chr11:59209777-59209827	HEEpiC	esophagus:	n/a
46	chr11:59209777-59209827	T-47D	breast:	n/a
47	chr11:59209777-59209827	AG09309	skin:	n/a
48	chr11:59209777-59209827	HUVEC	blood vessel:	n/a
49	chr11:59211431-59211481	MCF10A-Er-Src	breast:	n/a
50	chr11:59210965-59211015	NT2-D1	testis:	n/a

Variant related genes	Relation type
OR4D6	TF binding region
OR5A1	TF binding region
ENSG00000254640	TF binding region
OR4D6	CpG island
OR5A1	CpG island
ENSG00000254640	CpG island

Extended variants
information (count: 590 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546193997	chr11:59205205-59205206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17153714	chr11:59205263-59205264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185524965	chr11:59205291-59205292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540574700	chr11:59205309-59205310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561851710	chr11:59205315-59205316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529132137	chr11:59205380-59205381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112376065	chr11:59205398-59205399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145265631	chr11:59205429-59205430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572793484	chr11:59205441-59205442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72923323	chr11:59205474-59205475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558334288	chr11:59205502-59205503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191272143	chr11:59205521-59205522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1026319	chr11:59205522-59205523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142319807	chr11:59205538-59205539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543574055	chr11:59205569-59205570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183540150	chr11:59205661-59205662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546923112	chr11:59205702-59205703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568290928	chr11:59205708-59205709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568489529	chr11:59205719-59205720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1026320	chr11:59205759-59205760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557001095	chr11:59205771-59205772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2167923	chr11:59205772-59205773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188325825	chr11:59205796-59205797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10792241	chr11:59206233-59206234	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551226776	chr11:59206313-59206314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs560076002	chr11:59206341-59206342	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs183872129	chr11:59206343-59206344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545091113	chr11:59207693-59207694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs74883075	chr11:59207735-59207736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563451147	chr11:59207762-59207763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs137941581	chr11:59207772-59207773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs527774031	chr11:59207843-59207844	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs367741740	chr11:59207854-59207855	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs549531413	chr11:59207909-59207910	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs567641530	chr11:59207978-59207979	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs574074615	chr11:59208018-59208019	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs192647317	chr11:59208027-59208028	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550013401	chr11:59208030-59208031	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs142499665	chr11:59208070-59208071	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs538779304	chr11:59208096-59208097	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs79057152	chr11:59208105-59208106	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs184995010	chr11:59208116-59208117	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs72923328	chr11:59208173-59208174	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116482311	chr11:59208174-59208175	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs9787928	chr11:59208179-59208180	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530984146	chr11:59208184-59208185	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs554267678	chr11:59208195-59208196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs138541956	chr11:59208196-59208197	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs74958003	chr11:59208206-59208207	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs563153211	chr11:59208238-59208239	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59205200-59205800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:59207800-59208200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:59208000-59208200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:59208000-59208400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:59211000-59211600	Active TSS	Brain Substantia Nigra	brain
6	chr11:59219400-59219600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:59219600-59220800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:59220800-59221000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:59222400-59224000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:59223600-59224200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:59224000-59226600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:59224200-59224400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:59224200-59229800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:59224400-59230600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:59228800-59230400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:59229800-59230400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:59230400-59231000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:59230400-59231200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:59230400-59231200	Enhancers	HUVEC	blood vessel
20	chr11:59230600-59230800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:59230600-59231000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:59230600-59231000	Enhancers	Fetal Kidney	kidney
23	chr11:59230600-59231000	Enhancers	NHDF-Ad	bronchial
24	chr11:59230600-59231200	Enhancers	Ovary	ovary
25	chr11:59231000-59231800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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