Variant report

Variant	nsv975378
Chromosome Location	chr11:33105191-33112610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:33111397-33111588	GM12878	blood:	n/a	chr11:33111512-33111523
2	CTCF	chr11:33111439-33111754	IMR90	lung:	n/a	n/a
3	CTCF	chr11:33111500-33111650	NHDF-neo	bronchial:	n/a	n/a
4	CTCF	chr11:33111500-33111650	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr11:33111480-33111630	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr11:33111640-33111790	HEEpiC	esophagus:	n/a	n/a
7	CTCF	chr11:33111540-33111690	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr11:33111520-33111670	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr11:33111420-33111570	HCM	heart:	n/a	n/a
10	CTCF	chr11:33111480-33111630	NHDF-neo	bronchial:	n/a	n/a
11	CTCF	chr11:33111360-33111510	NHLF	lung:	n/a	n/a
12	CTCF	chr11:33111500-33111650	AoAF	blood vessel:	n/a	n/a
13	CTCF	chr11:33107685-33107728	MCF-7	breast:	n/a	chr11:33107709-33107727
14	CTCF	chr11:33111540-33111690	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:33105633-33105682	GM13976	blood:	n/a	n/a
16	CTCF	chr11:33111520-33111670	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr11:33111420-33111570	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chr11:33111512-33111655	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr11:33111560-33111710	AG09319	gingival:	n/a	n/a
20	CTCF	chr11:33111480-33111630	GM12872	blood:	n/a	n/a
21	CTCF	chr11:33111439-33111645	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:33107580-33107730	Hela-S3	cervix:	n/a	chr11:33107709-33107727
23	CTCF	chr11:33111420-33111570	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr11:33111520-33111670	AG10803	skin:	n/a	n/a
25	CTCF	chr11:33111460-33111610	AG09309	skin:	n/a	n/a
26	CTCF	chr11:33111480-33111630	GM12869	blood:	n/a	n/a
27	CTCF	chr11:33111500-33111650	HMEC	breast:	n/a	n/a
28	CTCF	chr11:33111560-33111710	GM12864	blood:	n/a	n/a
29	CTCF	chr11:33111500-33111650	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:33111520-33111670	GM12871	blood:	n/a	n/a
31	CTCF	chr11:33107674-33107752	HepG2	liver:	n/a	chr11:33107709-33107727
32	CTCF	chr11:33111440-33111590	GM12878	blood:	n/a	n/a
33	CTCF	chr11:33112021-33112040	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr11:33107670-33107730	Hela-S3	cervix:	n/a	chr11:33107709-33107727
35	CTCF	chr11:33111520-33111670	HEK293	kidney:	n/a	n/a
36	CTCF	chr11:33111360-33111510	HAc	cerebellar:	n/a	n/a
37	CTCF	chr11:33111520-33111670	HCM	heart:	n/a	n/a
38	CTCF	chr11:33111500-33111650	HAc	cerebellar:	n/a	n/a
39	CTCF	chr11:33111439-33111677	GM12878	blood:	n/a	n/a
40	CTCF	chr11:33111486-33111594	MCF-7	breast:	n/a	n/a
41	CTCF	chr11:33107620-33107770	Caco-2	colon:	n/a	chr11:33107709-33107727
42	CTCF	chr11:33111540-33111690	HMEC	breast:	n/a	n/a
43	CTCF	chr11:33111480-33111630	AG09319	gingival:	n/a	n/a
44	CTCF	chr11:33111680-33111830	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr11:33111520-33111670	Caco-2	colon:	n/a	n/a
46	CTCF	chr11:33111380-33111530	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr11:33105627-33105632	GM13976	blood:	n/a	n/a
48	CTCF	chr11:33111540-33111690	GM12870	blood:	n/a	n/a
49	CTCF	chr11:33107560-33107710	GM06990	blood:	n/a	n/a
50	CTCF	chr11:33111440-33111590	HFF	foreskin:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33112203..33114352-chr11:33151243..33153695,2	K562	blood:
2	chr11:33093701..33096269-chr11:33101527..33105812,4	K562	blood:
3	chr11:33110539..33112969-chr11:33181775..33184270,2	MCF-7	breast:
4	chr11:33097286..33101981-chr11:33104595..33108523,4	K562	blood:
5	chr11:33107993..33109639-chr11:33110999..33113012,2	K562	blood:
6	chr11:33107195..33109428-chr11:33181962..33183514,2	K562	blood:
7	chr11:33060966..33062993-chr11:33105012..33106638,2	K562	blood:
8	chr11:33107993..33109639-chr11:33110999..33113012,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CSTF3	hsa-miR-124-3p	chr11:33106507-33106525
2	CSTF3	hsa-miR-124-3p	chr11:33106222-33106241

Variant related genes	Relation type
CSTF3	TF binding region
ENSG00000247151	chromatin interactions
ENSG00000176148	chromatin interactions
ENSG00000213713	chromatin interactions
ENSG00000176102	chromatin interactions

Extended variants
information (count: 229 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111372711	chr11:33105200-33105201	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs140395670	chr11:33105255-33105256	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs549565145	chr11:33105297-33105298	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186245937	chr11:33105328-33105329	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374117877	chr11:33105361-33105362	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111589891	chr11:33105445-33105446	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112250259	chr11:33105488-33105489	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142758034	chr11:33105519-33105520	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs541365901	chr11:33105525-33105526	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375334918	chr11:33105533-33105534	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552413925	chr11:33105557-33105558	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191352781	chr11:33105640-33105641	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34115063	chr11:33105658-33105659	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565964410	chr11:33105687-33105688	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs534997355	chr11:33105691-33105692	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs555134336	chr11:33105710-33105711	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550469853	chr11:33105731-33105732	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568558315	chr11:33105744-33105745	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374522615	chr11:33105784-33105785	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537688392	chr11:33105862-33105863	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557589363	chr11:33105937-33105938	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10535595	chr11:33105982-33105983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150022328	chr11:33105983-33105984	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112556265	chr11:33105985-33105986	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs398055143	chr11:33105986-33105987	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7394784	chr11:33105996-33105997	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs74847145	chr11:33106001-33106002	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7394794	chr11:33106017-33106018	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183108556	chr11:33106114-33106115	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs147773863	chr11:33106148-33106149	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185961165	chr11:33106220-33106221	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540616164	chr11:33106223-33106224	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
33	rs560699770	chr11:33106256-33106257	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs529745990	chr11:33106267-33106268	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371972835	chr11:33106297-33106298	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs574888272	chr11:33106337-33106338	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563353162	chr11:33106347-33106348	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs532308045	chr11:33106348-33106349	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs552218054	chr11:33106448-33106449	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs539475946	chr11:33106528-33106529	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs565947454	chr11:33106531-33106532	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs139678138	chr11:33106543-33106544	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201998007	chr11:33106599-33106600	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs369833933	chr11:33106603-33106604	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs372315885	chr11:33106604-33106605	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs3758741	chr11:33106616-33106617	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs377337032	chr11:33106623-33106624	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372998614	chr11:33106630-33106631	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs377162271	chr11:33106674-33106675	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370908432	chr11:33106690-33106691	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33062800-33107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:33075000-33130200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:33076000-33129600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:33078200-33109000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:33078600-33109600	Strong transcription	Dnd41	blood
6	chr11:33079400-33110800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:33085200-33112000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:33085600-33107200	Weak transcription	K562	blood
9	chr11:33085600-33122000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:33086200-33122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:33086400-33127400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:33086600-33106400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:33086600-33119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:33086800-33107800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:33087200-33109600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:33087200-33110800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:33087200-33113600	Strong transcription	Placenta	Placenta
18	chr11:33087200-33129400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:33087400-33105200	Strong transcription	Thymus	Thymus
20	chr11:33087400-33107600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr11:33087400-33108200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:33087400-33108800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:33087400-33108800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:33087400-33109400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:33087400-33109400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr11:33087400-33109600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:33087400-33109800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:33087400-33109800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:33087600-33109600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:33087800-33111800	Strong transcription	A549	lung
31	chr11:33087800-33138000	Weak transcription	Stomach Mucosa	stomach
32	chr11:33089400-33113600	Strong transcription	Fetal Thymus	thymus
33	chr11:33090800-33106400	Weak transcription	Psoas Muscle	Psoas
34	chr11:33094400-33117600	Weak transcription	Fetal Kidney	kidney
35	chr11:33094400-33121400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:33094600-33107200	Weak transcription	Fetal Heart	heart
37	chr11:33094800-33119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:33095000-33126800	Weak transcription	Right Ventricle	heart
39	chr11:33095200-33119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:33095400-33117400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:33097800-33117600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:33097800-33117800	Weak transcription	Hela-S3	cervix
43	chr11:33098000-33121400	Weak transcription	Small Intestine	intestine
44	chr11:33098000-33122600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:33098800-33127400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:33099000-33107000	Weak transcription	Colonic Mucosa	Colon
47	chr11:33099200-33106200	Weak transcription	NHLF	lung
48	chr11:33099200-33107200	Weak transcription	NHEK	skin
49	chr11:33099200-33114000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:33099200-33129400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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