Variant report

Variant	nsv38581
Chromosome Location	chr11:104778008-104779414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:104778610-104778889	GM12878	blood:	n/a	chr11:104778766-104778777
2	CTCF	chr11:104778808-104778886	GM19239	blood:	n/a	n/a
3	CTCF	chr11:104778808-104778911	GM19238	blood:	n/a	n/a
4	CTCF	chr11:104778816-104778898	GM12892	blood:	n/a	n/a
5	CTCF	chr11:104778804-104778899	GM19240	blood:	n/a	n/a
6	CTCF	chr11:104778240-104778390	GM12867	blood:	n/a	n/a
7	CTCF	chr11:104778803-104778905	HepG2	liver:	n/a	n/a
8	CTCF	chr11:104778200-104778350	NHDF-neo	bronchial:	n/a	n/a
9	MAFK	chr11:104778275-104778643	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:104778374-104778424	GM19239	blood:	n/a
2	chr11:104778374-104778424	Hela-S3	cervix:	n/a
3	chr11:104778374-104778424	NT2-D1	testis:	n/a
4	chr11:104778374-104778424	HRPEpiC	eye:	n/a
5	chr11:104778374-104778424	BJ	skin:	n/a
6	chr11:104778374-104778424	NHBE	bronchial:	n/a
7	chr11:104778374-104778424	HRE	kidney:	n/a
8	chr11:104778374-104778424	PFSK-1	brain:	n/a
9	chr11:104778374-104778424	HCT-116	colon:	n/a
10	chr11:104778374-104778424	NHDF-neo	bronchial:	n/a
11	chr11:104778374-104778424	GM06990	blood:	n/a
12	chr11:104778374-104778424	AG10803	skin:	n/a
13	chr11:104778374-104778424	Caco-2	colon:	n/a
14	chr11:104778374-104778424	HepG2	liver:	n/a
15	chr11:104778374-104778424	H1-hESC	embryonic stem cell:	embryo
16	chr11:104778374-104778424	GM12878	blood:	n/a
17	chr11:104778374-104778424	K562	blood:	n/a
18	chr11:104778374-104778424	SAEC	small airway:	n/a
19	chr11:104778374-104778424	HNPCEpiC	eye:	n/a
20	chr11:104778374-104778424	HIPEpiC	eye:	n/a
21	chr11:104778374-104778424	RPTEC	kidney:	n/a
22	chr11:104778374-104778424	GM12892	blood:	n/a
23	chr11:104778374-104778424	HUVEC	blood vessel:	n/a
24	chr11:104778374-104778424	MCF10A-Er-Src	breast:	n/a
25	chr11:104778374-104778424	HL-60	blood:	n/a
26	chr11:104778374-104778424	SK-N-SH_RA	brain:	n/a
27	chr11:104778374-104778424	PANC-1	pancreas:	n/a
28	chr11:104778374-104778424	HCF	heart:	n/a
29	chr11:104778374-104778424	AG09319	gingival:	n/a
30	chr11:104778374-104778424	HAEpiC	amniotic membrane:	n/a
31	chr11:104778374-104778424	U87	brain:	n/a
32	chr11:104778374-104778424	MCF-7	breast:	n/a
33	chr11:104778374-104778424	SK-N-SH	brain:	n/a
34	chr11:104778374-104778424	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:104778374-104778424	IMR90	lung:	fetal
36	chr11:104778374-104778424	HCM	heart:	n/a
37	chr11:104778374-104778424	HCPEpiC	choroid plexus:	n/a
38	chr11:104778374-104778424	ProgFib	skin:	n/a
39	chr11:104778374-104778424	AG04449	skin:	fetal
40	chr11:104778374-104778424	BE2_C	brain:	n/a
41	chr11:104778374-104778424	SKMC	muscle:	n/a
42	chr11:104778374-104778424	Hepatocyte	liver:	n/a
43	chr11:104778374-104778424	ECC-1	luminal epithelium:	n/a
44	chr11:104778374-104778424	AG04450	lung:	fetal
45	chr11:104778374-104778424	SK-N-MC	brain:	n/a
46	chr11:104778374-104778424	Jurkat	blood:	n/a
47	chr11:104778374-104778424	AG09309	skin:	n/a
48	chr11:104778374-104778424	HMEC	breast:	n/a
49	chr11:104778374-104778424	NB4	blood:	n/a
50	chr11:104778374-104778424	T-47D	breast:	n/a

No data

Variant related genes	Relation type
ENSG00000235505	TF binding region
ENSG00000235505	CpG island

Extended variants
information (count: 47 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375623503	chr11:104778074-104778075	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184492747	chr11:104778101-104778102	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549864331	chr11:104778129-104778130	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563612564	chr11:104778165-104778166	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529203550	chr11:104778194-104778195	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147453253	chr11:104778217-104778218	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs140225542	chr11:104778251-104778252	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs11825902	chr11:104778291-104778292	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs373322851	chr11:104778326-104778327	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs115212298	chr11:104778357-104778358	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs77029692	chr11:104778371-104778372	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs537066163	chr11:104778375-104778376	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs145687729	chr11:104778392-104778393	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs545517520	chr11:104778396-104778397	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs535805849	chr11:104778400-104778401	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs555631022	chr11:104778462-104778463	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531952309	chr11:104778521-104778522	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs541179453	chr11:104778547-104778548	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188176611	chr11:104778555-104778556	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs147736867	chr11:104778566-104778567	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs595395	chr11:104778640-104778641	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs563570098	chr11:104778642-104778643	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs529280974	chr11:104778645-104778646	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs2005513	chr11:104778689-104778690	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs200243562	chr11:104778738-104778739	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs491011	chr11:104778739-104778740	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551568681	chr11:104778741-104778742	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs181969498	chr11:104778742-104778743	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs530547324	chr11:104778743-104778744	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs544071072	chr11:104778744-104778745	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs116488872	chr11:104778753-104778754	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs549835147	chr11:104778796-104778797	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs58395336	chr11:104778845-104778846	Enhancers Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs491945	chr11:104778846-104778847	Enhancers Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs75035924	chr11:104778869-104778870	Enhancers Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs185022203	chr11:104778926-104778927	Enhancers Strong transcription Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534900630	chr11:104778928-104778929	Enhancers Strong transcription Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142545247	chr11:104778929-104778930	Enhancers Strong transcription Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578113565	chr11:104778963-104778964	Enhancers Strong transcription Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543596542	chr11:104778969-104778970	Enhancers Strong transcription Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538349144	chr11:104779110-104779111	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538773236	chr11:104779134-104779135	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551812938	chr11:104779190-104779191	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs478650	chr11:104779195-104779196	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs516574	chr11:104779226-104779227	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543004686	chr11:104779239-104779240	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112446010	chr11:104779355-104779356	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104769200-104778200	Weak transcription	Left Ventricle	heart
2	chr11:104769200-104778800	Weak transcription	NHLF	lung
3	chr11:104769200-104786400	Weak transcription	Lung	lung
4	chr11:104769200-104786600	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:104769200-104787800	Weak transcription	Fetal Lung	lung
6	chr11:104769400-104785400	Weak transcription	Psoas Muscle	Psoas
7	chr11:104769400-104786800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:104769600-104785800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:104769600-104786800	Weak transcription	Adipose Nuclei	Adipose
10	chr11:104769600-104788000	Weak transcription	Fetal Stomach	stomach
11	chr11:104770400-104786600	Weak transcription	Ovary	ovary
12	chr11:104772200-104782000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:104772400-104778600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:104772600-104778800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:104772600-104783600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:104772800-104778200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:104773600-104779800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:104773800-104785600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:104776400-104787200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:104777400-104778200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr11:104777400-104778600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:104777600-104778400	Strong transcription	Aorta	Aorta
23	chr11:104777600-104778400	Strong transcription	Pancreas	Pancrea
24	chr11:104777600-104779000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:104777600-104779200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:104778000-104778200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:104778000-104778600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:104778000-104779600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:104778000-104779800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:104778200-104778600	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr11:104778200-104778600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:104778200-104778600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:104778200-104779000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:104778200-104779000	Enhancers	GM12878-XiMat	blood
35	chr11:104778200-104779200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr11:104778200-104779800	Strong transcription	Left Ventricle	heart
37	chr11:104778400-104786800	Weak transcription	Aorta	Aorta
38	chr11:104778400-104788800	Weak transcription	Pancreas	Pancrea
39	chr11:104778600-104778800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
40	chr11:104778600-104778800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr11:104778600-104779000	Enhancers	Primary B cells from peripheral blood	blood
42	chr11:104778600-104779000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr11:104778600-104779000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:104778800-104779000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr11:104778800-104779000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr11:104778800-104779000	Enhancers	NHLF	lung
47	chr11:104778800-104779200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:104779000-104779200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:104779000-104779600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr11:104779000-104783800	Weak transcription	Primary T cells fromperipheralblood	blood

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