Variant report

Variant	nsv975115
Chromosome Location	chr11:56460276-56468712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:56464932-56465171	A549	lung:	n/a	chr11:56465014-56465025
2	CEBPB	chr11:56464859-56465477	HepG2	liver:	n/a	chr11:56465014-56465025
3	CTCF	chr11:56463535-56463615	GM20000	blood:	n/a	n/a
4	CTCF	chr11:56463160-56463310	Caco-2	colon:	n/a	n/a
5	CTCF	chr11:56468172-56468236	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:56468180-56468330	NHEK	skin:	n/a	n/a
7	CTCF	chr11:56463160-56463310	NHEK	skin:	n/a	n/a
8	CTCF	chr11:56467931-56468027	NHEK	skin:	n/a	n/a
9	E2F4	chr11:56460622-56460734	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:56467658-56467972	MCF10A-Er-Src	breast:	n/a	chr11:56467827-56467836
11	FOS	chr11:56467657-56468036	MCF10A-Er-Src	breast:	n/a	chr11:56467827-56467836
12	FOS	chr11:56467656-56468035	MCF10A-Er-Src	breast:	n/a	chr11:56467827-56467836
13	GATA3	chr11:56463482-56463616	SH-SY5Y	brain:	n/a	n/a
14	MYC	chr11:56466592-56466710	NB4	blood:	n/a	n/a
15	POLR2A	chr11:56466851-56467037	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:56466162-56466302	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:56463760-56463813	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:56465970-56465997	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:56467658-56467811	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:56468003-56468024	A549	lung:	n/a	n/a
21	POLR2A	chr11:56468063-56468608	A549	lung:	n/a	n/a
22	POLR2A	chr11:56467929-56467999	A549	lung:	n/a	n/a
23	POLR2A	chr11:56464126-56464142	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:56467545-56467745	MCF10A-Er-Src	breast:	n/a	n/a
25	RFX5	chr11:56466184-56466199	K562	blood:	n/a	n/a
26	STAT3	chr11:56467774-56467887	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr11:56460809-56460954	MCF10A-Er-Src	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56468348-56468398	NH-A	brain:	n/a
2	chr11:56466731-56466781	HRPEpiC	eye:	n/a
3	chr11:56466578-56466628	T-47D	breast:	n/a
4	chr11:56466578-56466628	NB4	blood:	n/a
5	chr11:56466578-56466628	HL-60	blood:	n/a
6	chr11:56467944-56467994	HCPEpiC	choroid plexus:	n/a
7	chr11:56466731-56466781	HCF	heart:	n/a
8	chr11:56466578-56466628	HepG2	liver:	n/a
9	chr11:56466578-56466628	Hepatocyte	liver:	n/a
10	chr11:56466731-56466781	Jurkat	blood:	n/a
11	chr11:56466578-56466628	HUVEC	blood vessel:	n/a
12	chr11:56468348-56468398	BE2_C	brain:	n/a
13	chr11:56467944-56467994	H1-hESC	embryonic stem cell:	embryo
14	chr11:56467944-56467994	Jurkat	blood:	n/a
15	chr11:56468348-56468398	ECC-1	luminal epithelium:	n/a
16	chr11:56466578-56466628	HRE	kidney:	n/a
17	chr11:56466731-56466781	ProgFib	skin:	n/a
18	chr11:56468348-56468398	ProgFib	skin:	n/a
19	chr11:56466731-56466781	ECC-1	luminal epithelium:	n/a
20	chr11:56466578-56466628	Hela-S3	cervix:	n/a
21	chr11:56468348-56468398	K562	blood:	n/a
22	chr11:56466731-56466781	HMEC	breast:	n/a
23	chr11:56468348-56468398	NHDF-neo	bronchial:	n/a
24	chr11:56468348-56468398	HRCEpiC	kidney:	n/a
25	chr11:56468348-56468398	ovcar-3	ovarian:	n/a
26	chr11:56468348-56468398	HCPEpiC	choroid plexus:	n/a
27	chr11:56467944-56467994	U87	brain:	n/a
28	chr11:56468348-56468398	HEEpiC	esophagus:	n/a
29	chr11:56466731-56466781	AG09319	gingival:	n/a
30	chr11:56468348-56468398	GM19239	blood:	n/a
31	chr11:56466578-56466628	ECC-1	luminal epithelium:	n/a
32	chr11:56468348-56468398	GM06990	blood:	n/a
33	chr11:56466578-56466628	MCF10A-Er-Src	breast:	n/a
34	chr11:56466731-56466781	HAEpiC	amniotic membrane:	n/a
35	chr11:56467944-56467994	ProgFib	skin:	n/a
36	chr11:56466731-56466781	T-47D	breast:	n/a
37	chr11:56466578-56466628	NH-A	brain:	n/a
38	chr11:56467944-56467994	GM12891	blood:	n/a
39	chr11:56466731-56466781	HEK293	kidney:	embryo
40	chr11:56466731-56466781	PANC-1	pancreas:	n/a
41	chr11:56467944-56467994	BJ	skin:	n/a
42	chr11:56466731-56466781	AG09309	skin:	n/a
43	chr11:56466731-56466781	BE2_C	brain:	n/a
44	chr11:56466731-56466781	HNPCEpiC	eye:	n/a
45	chr11:56468348-56468398	AG04450	lung:	fetal
46	chr11:56466731-56466781	NB4	blood:	n/a
47	chr11:56468348-56468398	U87	brain:	n/a
48	chr11:56466731-56466781	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:56467944-56467994	SK-N-MC	brain:	n/a
50	chr11:56466578-56466628	K562	blood:	n/a

No data

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

Extended variants
information (count: 504 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544053261	chr11:56460840-56460841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562361583	chr11:56460862-56460863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188014910	chr11:56460867-56460868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545170561	chr11:56460898-56460899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146003833	chr11:56460942-56460943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567274730	chr11:56460951-56460952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3071452	chr11:56460962-56460963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554211159	chr11:56460997-56460998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560016788	chr11:56460999-56461000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368964192	chr11:56461024-56461025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527376795	chr11:56461031-56461032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549039827	chr11:56461044-56461045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192479720	chr11:56461054-56461055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374522524	chr11:56461065-56461066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532048306	chr11:56461066-56461067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550468037	chr11:56461070-56461071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573232582	chr11:56461084-56461085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558462791	chr11:56461090-56461091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540629358	chr11:56461133-56461134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571887438	chr11:56461138-56461139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142443295	chr11:56461140-56461141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184595875	chr11:56461145-56461146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1509999	chr11:56461210-56461211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536743794	chr11:56461216-56461217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554555973	chr11:56461245-56461246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188962997	chr11:56461266-56461267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1509998	chr11:56461285-56461286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556070725	chr11:56461342-56461343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577846734	chr11:56461360-56461361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578085145	chr11:56461361-56461362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544919828	chr11:56461471-56461472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11228729	chr11:56461474-56461475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181292498	chr11:56461475-56461476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34857354	chr11:56461478-56461479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184723532	chr11:56461495-56461496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150513773	chr11:56461527-56461528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189554497	chr11:56461536-56461537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181006383	chr11:56461546-56461547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185890612	chr11:56461569-56461570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190956107	chr11:56461582-56461583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369143023	chr11:56461630-56461631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547718731	chr11:56461640-56461641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566225947	chr11:56461655-56461656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562996803	chr11:56461685-56461686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114736999	chr11:56461692-56461693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548239300	chr11:56461708-56461709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139831479	chr11:56461751-56461752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143140166	chr11:56461768-56461769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181784159	chr11:56461884-56461885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558523562	chr11:56461912-56461913	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56460800-56461400	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr11:56461000-56462600	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr11:56461400-56465400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:56462600-56463400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:56463000-56464000	Enhancers	Dnd41	blood
6	chr11:56463400-56468200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:56464000-56467400	Weak transcription	Dnd41	blood
8	chr11:56464200-56465000	Enhancers	Fetal Intestine Large	intestine
9	chr11:56465200-56467800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:56466600-56466800	Enhancers	Fetal Intestine Large	intestine
11	chr11:56467400-56468200	Enhancers	Dnd41	blood
12	chr11:56467600-56468600	Enhancers	NHEK	skin
13	chr11:56467600-56468800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:56467600-56470200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:56467800-56468200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:56467800-56468200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:56467800-56468400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr11:56467800-56468400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr11:56467800-56468600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:56467800-56468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:56467800-56468600	Enhancers	HMEC	breast
22	chr11:56468200-56468400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:56468200-56468400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:56468200-56468600	Flanking Active TSS	Dnd41	blood
25	chr11:56468200-56473200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:56468400-56468600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:56468400-56470200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:56468600-56469000	Enhancers	Dnd41	blood
29	chr11:56468600-56473200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:56468600-56473200	Weak transcription	HMEC	breast
31	chr11:56468600-56473600	Weak transcription	NHEK	skin

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