Variant report

Variant	esv33170
Chromosome Location	chr11:63530595-63531349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:63438066..63440126-chr11:63528980..63530613,2	MCF-7	breast:
2	chr11:63522435..63525089-chr11:63529331..63531365,3	K562	blood:
3	chr11:63515783..63518081-chr11:63529282..63531993,2	K562	blood:
4	chr11:63520245..63522926-chr11:63528476..63531329,2	MCF-7	breast:
5	chr11:63528210..63531118-chr11:63540362..63542813,2	MCF-7	breast:
6	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
7	chr11:63526116..63528464-chr11:63528882..63530638,2	K562	blood:
8	chr11:63527527..63531451-chr11:63579707..63582153,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184743	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000110583	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576852655	chr11:63530618-63530619	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116905948	chr11:63530641-63530642	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376766749	chr11:63530642-63530643	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185169227	chr11:63530675-63530676	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564881113	chr11:63530681-63530682	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527344090	chr11:63530687-63530688	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547196636	chr11:63530701-63530702	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561065905	chr11:63530775-63530776	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529832552	chr11:63530877-63530878	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369118179	chr11:63530935-63530936	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549988293	chr11:63530941-63530942	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569613131	chr11:63530944-63530945	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538551388	chr11:63530980-63530981	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551321880	chr11:63531009-63531010	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372788202	chr11:63531094-63531095	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373391394	chr11:63531129-63531130	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560708869	chr11:63531143-63531144	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2959886	chr11:63531175-63531176	Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554330843	chr11:63531212-63531213	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553956173	chr11:63531226-63531227	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370217341	chr11:63531283-63531284	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536440387	chr11:63531334-63531335	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556795894	chr11:63531349-63531350	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63509000-63534800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:63511000-63534800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:63516000-63534800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:63516400-63533400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:63516400-63534200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:63516600-63533800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:63519400-63534800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:63520400-63533400	Weak transcription	GM12878-XiMat	blood
9	chr11:63521200-63534600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:63521400-63534400	Weak transcription	Primary B cells from cord blood	blood
11	chr11:63521400-63534800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:63523400-63532600	Strong transcription	Fetal Thymus	thymus
13	chr11:63523400-63533600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:63523600-63533400	Strong transcription	Dnd41	blood
15	chr11:63523800-63530600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:63525000-63534400	Weak transcription	HSMMtube	muscle
17	chr11:63525400-63532000	Weak transcription	Spleen	Spleen
18	chr11:63525600-63532200	Weak transcription	HepG2	liver
19	chr11:63525800-63534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:63526200-63534600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:63526600-63530600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:63526600-63534800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:63526600-63534800	Weak transcription	Small Intestine	intestine
24	chr11:63527600-63533600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:63528000-63534200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:63528000-63534200	Weak transcription	Fetal Kidney	kidney
27	chr11:63528200-63532400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:63528400-63533800	Weak transcription	HMEC	breast
29	chr11:63528400-63534000	Weak transcription	HSMM	muscle
30	chr11:63528400-63534600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:63528600-63532000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:63528600-63532400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:63528600-63533000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:63528800-63531400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:63528800-63532200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:63528800-63534400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:63529000-63533000	Weak transcription	Hela-S3	cervix
38	chr11:63529200-63531800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:63529200-63532000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr11:63529200-63532200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr11:63529200-63532800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:63529200-63534400	Enhancers	Fetal Brain Male	brain
43	chr11:63529200-63534400	Weak transcription	K562	blood
44	chr11:63529200-63534600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:63529200-63534800	Weak transcription	Primary T cells from cord blood	blood
46	chr11:63529200-63534800	Enhancers	Fetal Heart	heart
47	chr11:63529400-63530800	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr11:63529400-63532000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:63529400-63532000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:63529400-63534400	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links