Variant report

Variant	nsv975930
Chromosome Location	chr11:56467511-56468712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:56468180-56468330	NHEK	skin:	n/a	n/a
2	CTCF	chr11:56467931-56468027	NHEK	skin:	n/a	n/a
3	CTCF	chr11:56468172-56468236	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr11:56467657-56468036	MCF10A-Er-Src	breast:	n/a	chr11:56467827-56467836
5	FOS	chr11:56467656-56468035	MCF10A-Er-Src	breast:	n/a	chr11:56467827-56467836
6	FOS	chr11:56467658-56467972	MCF10A-Er-Src	breast:	n/a	chr11:56467827-56467836
7	POLR2A	chr11:56468063-56468608	A549	lung:	n/a	n/a
8	POLR2A	chr11:56467929-56467999	A549	lung:	n/a	n/a
9	POLR2A	chr11:56468003-56468024	A549	lung:	n/a	n/a
10	POLR2A	chr11:56467658-56467811	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:56467545-56467745	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr11:56467774-56467887	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56467944-56467994	CMK	blood:	n/a
2	chr11:56468348-56468398	AG09319	gingival:	n/a
3	chr11:56468348-56468398	SKMC	muscle:	n/a
4	chr11:56467944-56467994	HCM	heart:	n/a
5	chr11:56468348-56468398	Hela-S3	cervix:	n/a
6	chr11:56468348-56468398	BJ	skin:	n/a
7	chr11:56467944-56467994	HCT-116	colon:	n/a
8	chr11:56468348-56468398	Hepatocyte	liver:	n/a
9	chr11:56467944-56467994	HL-60	blood:	n/a
10	chr11:56467944-56467994	PrEC	prostate:	n/a
11	chr11:56468348-56468398	GM19239	blood:	n/a
12	chr11:56467944-56467994	GM12878	blood:	n/a
13	chr11:56467944-56467994	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:56468348-56468398	GM12891	blood:	n/a
15	chr11:56467944-56467994	BE2_C	brain:	n/a
16	chr11:56468348-56468398	HNPCEpiC	eye:	n/a
17	chr11:56468348-56468398	NT2-D1	testis:	n/a
18	chr11:56467944-56467994	H1-hESC	embryonic stem cell:	embryo
19	chr11:56467944-56467994	ECC-1	luminal epithelium:	n/a
20	chr11:56468348-56468398	PFSK-1	brain:	n/a
21	chr11:56468348-56468398	AG04449	skin:	fetal
22	chr11:56468348-56468398	IMR90	lung:	fetal
23	chr11:56467944-56467994	A549	lung:	n/a
24	chr11:56467944-56467994	HEEpiC	esophagus:	n/a
25	chr11:56467944-56467994	GM06990	blood:	n/a
26	chr11:56467944-56467994	HNPCEpiC	eye:	n/a
27	chr11:56467944-56467994	GM12891	blood:	n/a
28	chr11:56467944-56467994	AG10803	skin:	n/a
29	chr11:56468348-56468398	Caco-2	colon:	n/a
30	chr11:56467944-56467994	NB4	blood:	n/a
31	chr11:56467944-56467994	ovcar-3	ovarian:	n/a
32	chr11:56468348-56468398	HAEpiC	amniotic membrane:	n/a
33	chr11:56467944-56467994	HEK293	kidney:	embryo
34	chr11:56468348-56468398	PrEC	prostate:	n/a
35	chr11:56467944-56467994	AoSMC	blood vessel:	n/a
36	chr11:56467944-56467994	HCPEpiC	choroid plexus:	n/a
37	chr11:56468348-56468398	AG10803	skin:	n/a
38	chr11:56468348-56468398	HEK293	kidney:	embryo
39	chr11:56468348-56468398	H1-hESC	embryonic stem cell:	embryo
40	chr11:56468348-56468398	ovcar-3	ovarian:	n/a
41	chr11:56467944-56467994	HRPEpiC	eye:	n/a
42	chr11:56468348-56468398	LNCaP	prostate:	n/a
43	chr11:56468348-56468398	HUVEC	blood vessel:	n/a
44	chr11:56468348-56468398	GM12878	blood:	n/a
45	chr11:56467944-56467994	LNCaP	prostate:	n/a
46	chr11:56467944-56467994	SK-N-MC	brain:	n/a
47	chr11:56467944-56467994	GM19239	blood:	n/a
48	chr11:56468348-56468398	HIPEpiC	eye:	n/a
49	chr11:56468348-56468398	ProgFib	skin:	n/a
50	chr11:56467944-56467994	MCF-7	breast:	n/a

No data

Variant related genes	Relation type
OR9G1	TF binding region
OR9G1	CpG island

Extended variants
information (count: 136 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72919663	chr11:56467518-56467519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544855411	chr11:56467528-56467529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72919666	chr11:56467533-56467534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368807469	chr11:56467563-56467564	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376451379	chr11:56467564-56467565	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs72919667	chr11:56467566-56467567	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs386753782	chr11:56467584-56467585	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs74586653	chr11:56467595-56467596	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs572161720	chr11:56467600-56467601	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs386753783	chr11:56467602-56467603	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs79789361	chr11:56467618-56467619	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs371137822	chr11:56467619-56467620	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs61904565	chr11:56467654-56467655	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374069696	chr11:56467690-56467691	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs386753784	chr11:56467696-56467697	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs146241892	chr11:56467698-56467699	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs33975499	chr11:56467700-56467701	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs79477971	chr11:56467716-56467717	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs544058135	chr11:56467750-56467751	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs77393388	chr11:56467759-56467760	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs79740513	chr11:56467760-56467761	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs76620500	chr11:56467761-56467762	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs75599799	chr11:56467763-56467764	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78916686	chr11:56467764-56467765	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs74218731	chr11:56467787-56467788	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs386753785	chr11:56467810-56467811	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs77180330	chr11:56467813-56467814	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs78119960	chr11:56467816-56467817	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs78036340	chr11:56467819-56467820	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs73474897	chr11:56467833-56467834	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73474900	chr11:56467881-56467882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143307936	chr11:56467897-56467898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146469672	chr11:56467898-56467899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530091460	chr11:56467909-56467910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548190434	chr11:56467920-56467921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1704284	chr11:56467926-56467927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs140880903	chr11:56467937-56467938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556450024	chr11:56467944-56467945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397849604	chr11:56467945-56467946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538866911	chr11:56467951-56467952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143783140	chr11:56467953-56467954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148130764	chr11:56467955-56467956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141109275	chr11:56467960-56467961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199815410	chr11:56467961-56467962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150259232	chr11:56467964-56467965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369133517	chr11:56467988-56467989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202001195	chr11:56467999-56468000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386753786	chr11:56468020-56468021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532635	chr11:56468021-56468022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139045527	chr11:56468032-56468033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56463400-56468200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:56465200-56467800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:56467400-56468200	Enhancers	Dnd41	blood
4	chr11:56467600-56468600	Enhancers	NHEK	skin
5	chr11:56467600-56468800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:56467600-56470200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:56467800-56468200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:56467800-56468200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:56467800-56468400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:56467800-56468400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:56467800-56468600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:56467800-56468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:56467800-56468600	Enhancers	HMEC	breast
14	chr11:56468200-56468400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:56468200-56468400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:56468200-56468600	Flanking Active TSS	Dnd41	blood
17	chr11:56468200-56473200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:56468400-56468600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:56468400-56470200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:56468600-56469000	Enhancers	Dnd41	blood
21	chr11:56468600-56473200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:56468600-56473200	Weak transcription	HMEC	breast
23	chr11:56468600-56473600	Weak transcription	NHEK	skin

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