Variant report

Variant	nsv553448
Chromosome Location	chr11:8958903-8960257
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	chr11:8958557-8959209	GM12878	blood:	n/a	n/a
2	ATF2	chr11:8958641-8959164	GM12878	blood:	n/a	n/a
3	BATF	chr11:8958632-8959155	GM12878	blood:	n/a	n/a
4	BCL3	chr11:8958736-8959033	GM12878	blood:	n/a	n/a
5	BCL3	chr11:8958622-8959086	GM12878	blood:	n/a	n/a
6	BCLAF1	chr11:8958629-8959151	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:8958705-8959053	GM12878	blood:	n/a	n/a
8	CUX1	chr11:8958725-8958990	GM12878	blood:	n/a	n/a
9	E2F6	chr11:8959281-8959537	K562	blood:	n/a	n/a
10	E2F6	chr11:8959159-8959547	H1-hESC	embryonic stem cell:	n/a	n/a
11	EBF1	chr11:8958691-8959103	GM12878	blood:	n/a	n/a
12	EBF1	chr11:8958769-8959082	GM12878	blood:	n/a	n/a
13	EBF1	chr11:8958741-8959105	GM12878	blood:	n/a	n/a
14	ELF1	chr11:8958746-8959001	GM12878	blood:	n/a	n/a
15	ELF1	chr11:8958589-8959065	GM12878	blood:	n/a	n/a
16	FOXM1	chr11:8958472-8959152	GM12878	blood:	n/a	n/a
17	FOXM1	chr11:8958726-8959150	GM12878	blood:	n/a	n/a
18	MAX	chr11:8959428-8959701	K562	blood:	n/a	n/a
19	MTA3	chr11:8958642-8959127	GM12878	blood:	n/a	n/a
20	NFATC1	chr11:8958614-8959165	GM12878	blood:	n/a	n/a
21	NFATC1	chr11:8958635-8959049	GM12878	blood:	n/a	n/a
22	NFIC	chr11:8958546-8959204	GM12878	blood:	n/a	n/a
23	NFIC	chr11:8958628-8959175	GM12878	blood:	n/a	n/a
24	PAX5	chr11:8958581-8959039	GM12891	blood:	n/a	chr11:8958846-8958855 chr11:8958845-8958864 chr11:8958846-8958864
25	PAX5	chr11:8958666-8959014	GM12891	blood:	n/a	chr11:8958846-8958855 chr11:8958845-8958864 chr11:8958846-8958864
26	PAX5	chr11:8958504-8959180	GM12878	blood:	n/a	chr11:8958846-8958855 chr11:8958845-8958864 chr11:8958846-8958864
27	PAX5	chr11:8958568-8959068	GM12878	blood:	n/a	chr11:8958846-8958855 chr11:8958845-8958864 chr11:8958846-8958864
28	PAX5	chr11:8958741-8959011	GM12892	blood:	n/a	chr11:8958846-8958855 chr11:8958845-8958864 chr11:8958846-8958864
29	PAX5	chr11:8958642-8958982	GM12878	blood:	n/a	chr11:8958846-8958855 chr11:8958845-8958864 chr11:8958846-8958864
30	PAX5	chr11:8958635-8959005	GM12878	blood:	n/a	chr11:8958846-8958855 chr11:8958845-8958864 chr11:8958846-8958864
31	PAX5	chr11:8958716-8958997	GM12892	blood:	n/a	chr11:8958846-8958855 chr11:8958845-8958864 chr11:8958846-8958864
32	POU2F2	chr11:8958644-8959046	GM12891	blood:	n/a	n/a
33	POU2F2	chr11:8958623-8959114	GM12891	blood:	n/a	chr11:8959071-8959084
34	POU2F2	chr11:8958586-8959071	GM12878	blood:	n/a	n/a
35	POU2F2	chr11:8958606-8958969	GM12878	blood:	n/a	n/a
36	RUNX3	chr11:8958617-8959171	GM12878	blood:	n/a	n/a
37	RUNX3	chr11:8958622-8959089	GM12878	blood:	n/a	n/a
38	TCF12	chr11:8958745-8958987	GM12878	blood:	n/a	chr11:8958945-8958955
39	ZNF384	chr11:8960181-8960437	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8959438-8959488	HUVEC	blood vessel:	n/a
2	chr11:8959438-8959488	HCPEpiC	choroid plexus:	n/a
3	chr11:8959438-8959488	HepG2	liver:	n/a
4	chr11:8959438-8959488	Caco-2	colon:	n/a
5	chr11:8959438-8959488	HAEpiC	amniotic membrane:	n/a
6	chr11:8959438-8959488	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:8959438-8959488	HL-60	blood:	n/a
8	chr11:8959438-8959488	NHBE	bronchial:	n/a
9	chr11:8959438-8959488	Hela-S3	cervix:	n/a
10	chr11:8959438-8959488	AG09319	gingival:	n/a
11	chr11:8959438-8959488	RPTEC	kidney:	n/a
12	chr11:8959438-8959488	NH-A	brain:	n/a
13	chr11:8959438-8959488	BJ	skin:	n/a
14	chr11:8959438-8959488	IMR90	lung:	fetal
15	chr11:8959438-8959488	HNPCEpiC	eye:	n/a
16	chr11:8959438-8959488	NT2-D1	testis:	n/a
17	chr11:8959438-8959488	AG09309	skin:	n/a
18	chr11:8959438-8959488	MCF-7	breast:	n/a
19	chr11:8959438-8959488	HMEC	breast:	n/a
20	chr11:8959438-8959488	GM12891	blood:	n/a
21	chr11:8959438-8959488	H1-hESC	embryonic stem cell:	embryo
22	chr11:8959438-8959488	U87	brain:	n/a
23	chr11:8959438-8959488	K562	blood:	n/a
24	chr11:8959438-8959488	HRPEpiC	eye:	n/a
25	chr11:8959438-8959488	HEEpiC	esophagus:	n/a
26	chr11:8959438-8959488	HRE	kidney:	n/a
27	chr11:8959438-8959488	ProgFib	skin:	n/a
28	chr11:8959438-8959488	AG04450	lung:	fetal
29	chr11:8959438-8959488	CMK	blood:	n/a
30	chr11:8959438-8959488	GM12892	blood:	n/a
31	chr11:8959438-8959488	PANC-1	pancreas:	n/a
32	chr11:8959438-8959488	AoSMC	blood vessel:	n/a
33	chr11:8959438-8959488	MCF10A-Er-Src	breast:	n/a
34	chr11:8959438-8959488	HCF	heart:	n/a
35	chr11:8959438-8959488	GM19239	blood:	n/a
36	chr11:8959438-8959488	HEK293	kidney:	embryo
37	chr11:8959438-8959488	PrEC	prostate:	n/a
38	chr11:8959438-8959488	A549	lung:	n/a
39	chr11:8959438-8959488	HRCEpiC	kidney:	n/a
40	chr11:8959438-8959488	GM06990	blood:	n/a
41	chr11:8959438-8959488	ECC-1	luminal epithelium:	n/a
42	chr11:8959438-8959488	Hepatocyte	liver:	n/a
43	chr11:8959438-8959488	SKMC	muscle:	n/a
44	chr11:8959438-8959488	SAEC	small airway:	n/a
45	chr11:8959438-8959488	HCT-116	colon:	n/a
46	chr11:8959438-8959488	Jurkat	blood:	n/a
47	chr11:8959438-8959488	AG04449	skin:	fetal
48	chr11:8959438-8959488	NB4	blood:	n/a
49	chr11:8959438-8959488	T-47D	breast:	n/a
50	chr11:8959438-8959488	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8957976..8959649-chr11:8961738..8963442,2	K562	blood:

Variant related genes	Relation type
ASCL3	TF binding region
C11orf16	TF binding region
ASCL3	CpG island
C11orf16	CpG island

Extended variants
information (count: 98 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3751064	chr11:8958903-8958904	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145910646	chr11:8958986-8958987	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538240502	chr11:8959007-8959008	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs3751063	chr11:8959020-8959021	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs368390220	chr11:8959050-8959051	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs557695658	chr11:8959070-8959071	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577464158	chr11:8959084-8959085	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs546137438	chr11:8959096-8959097	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559473558	chr11:8959103-8959104	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572928010	chr11:8959106-8959107	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs373082955	chr11:8959112-8959113	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs138490490	chr11:8959152-8959153	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376186721	chr11:8959153-8959154	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs143210191	chr11:8959231-8959232	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564169914	chr11:8959232-8959233	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561616589	chr11:8959248-8959249	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs202106934	chr11:8959255-8959256	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200856266	chr11:8959283-8959284	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201014647	chr11:8959295-8959296	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs141980368	chr11:8959296-8959297	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs370503735	chr11:8959301-8959302	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs141568989	chr11:8959327-8959328	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs150668187	chr11:8959351-8959352	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs146206636	chr11:8959360-8959361	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs137922914	chr11:8959369-8959370	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs2742505	chr11:8959370-8959371	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs150867873	chr11:8959380-8959381	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185371444	chr11:8959387-8959388	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs138891086	chr11:8959395-8959396	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs560348439	chr11:8959396-8959397	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs149388223	chr11:8959406-8959407	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs188564430	chr11:8959407-8959408	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs370622892	chr11:8959419-8959420	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs534209643	chr11:8959421-8959422	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs375916322	chr11:8959422-8959423	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs552974459	chr11:8959423-8959424	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200256512	chr11:8959438-8959439	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs181379245	chr11:8959439-8959440	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs201247406	chr11:8959446-8959447	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs202115947	chr11:8959448-8959449	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs201512605	chr11:8959451-8959452	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs147479456	chr11:8959479-8959480	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs368549747	chr11:8959490-8959491	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs371065334	chr11:8959492-8959493	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs375622373	chr11:8959495-8959496	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs4910179	chr11:8959511-8959512	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs367626662	chr11:8959517-8959518	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs371923127	chr11:8959528-8959529	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs375148614	chr11:8959538-8959539	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs186562703	chr11:8959540-8959541	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8942400-8959000	Weak transcription	Fetal Kidney	kidney
2	chr11:8943800-8969200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:8945800-8974000	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:8947000-8968800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:8947000-8977000	Weak transcription	Aorta	Aorta
7	chr11:8947400-8969000	Weak transcription	Thymus	Thymus
8	chr11:8947600-8969000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:8948200-8969000	Weak transcription	Fetal Brain Female	brain
10	chr11:8948600-8969200	Weak transcription	Gastric	stomach
11	chr11:8948600-8969200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:8951200-8974400	Weak transcription	HepG2	liver
13	chr11:8952600-8975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:8952800-8968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:8954400-8984400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:8955200-8976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:8955800-8968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:8956800-8968600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:8956800-8969000	Weak transcription	Osteobl	bone
20	chr11:8957000-8962400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:8957000-8968000	Weak transcription	HSMM	muscle
22	chr11:8957000-8968800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:8957000-8968800	Weak transcription	Fetal Intestine Large	intestine
24	chr11:8957000-8969000	Weak transcription	HSMMtube	muscle
25	chr11:8957000-8969800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:8957000-8969800	Weak transcription	Fetal Stomach	stomach
27	chr11:8957000-8974200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:8957000-8980800	Weak transcription	Fetal Heart	heart
29	chr11:8957200-8968800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:8957200-8968800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:8957200-8969000	Weak transcription	A549	lung
32	chr11:8957200-8969200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:8957200-8970200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:8957200-8973400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:8957400-8959200	Weak transcription	K562	blood
36	chr11:8957400-8960400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:8957400-8968600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:8957400-8968800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:8957400-8969000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:8957400-8969000	Weak transcription	Fetal Thymus	thymus
41	chr11:8957400-8969000	Weak transcription	NH-A	brain
42	chr11:8957400-8969800	Weak transcription	Spleen	Spleen
43	chr11:8958400-8959600	Enhancers	GM12878-XiMat	blood
44	chr11:8958600-8959000	Enhancers	Placenta	Placenta
45	chr11:8958800-8959000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:8958800-8969000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:8959000-8959200	Enhancers	Fetal Kidney	kidney
48	chr11:8959000-8968800	Weak transcription	Placenta	Placenta
49	chr11:8959000-8974000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:8959200-8959600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links