Variant report

Variant	nsv555246
Chromosome Location	chr11:66843877-66844860
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66797798..66801949-chr11:66843586..66847456,4	MCF-7	breast:
2	chr11:66844181..66847775-chr11:67079244..67082122,3	MCF-7	breast:
3	chr11:66843398..66845458-chr11:66847926..66850776,2	MCF-7	breast:
4	chr11:66837948..66839909-chr11:66844493..66847036,2	K562	blood:
5	chr11:66780973..66783340-chr11:66843996..66846354,2	MCF-7	breast:
6	chr11:66788535..66793163-chr11:66843728..66847752,10	MCF-7	breast:
7	chr11:66622562..66624128-chr11:66843340..66844958,2	MCF-7	breast:
8	chr11:66795520..66800243-chr11:66842447..66847308,8	MCF-7	breast:
9	chr11:66844176..66846694-chr11:67055036..67058440,3	MCF-7	breast:
10	chr11:66751363..66756232-chr11:66844314..66849671,8	MCF-7	breast:
11	chr11:66843754..66847684-chr11:66886788..66890300,5	MCF-7	breast:
12	chr11:66836812..66842156-chr11:66842651..66845856,9	MCF-7	breast:
13	chr11:66821776..66823454-chr11:66841539..66844484,2	K562	blood:
14	chr11:66843110..66845610-chr11:67055483..67057190,2	K562	blood:
15	chr11:66748815..66755953-chr11:66843606..66849844,15	MCF-7	breast:
16	chr11:66788209..66792754-chr11:66842062..66847594,9	MCF-7	breast:
17	chr11:66741669..66743697-chr11:66844608..66846360,2	MCF-7	breast:
18	chr11:66842897..66845460-chr16:20741423..20744346,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173237	chromatin interactions
ENSG00000173621	chromatin interactions
ENSG00000173227	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000173120	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570009015	chr11:66843895-66843896	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs535956595	chr11:66843992-66843993	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs548975601	chr11:66843994-66843995	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs374788305	chr11:66844011-66844012	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs567769500	chr11:66844033-66844034	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs535176948	chr11:66844044-66844045	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs553602219	chr11:66844046-66844047	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs578235364	chr11:66844051-66844052	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs374392049	chr11:66844076-66844077	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567219794	chr11:66844098-66844099	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs557398547	chr11:66844149-66844150	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs182672339	chr11:66844205-66844206	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs371534990	chr11:66844209-66844210	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs374908380	chr11:66844212-66844213	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs537548625	chr11:66844233-66844234	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs575967076	chr11:66844342-66844343	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs543069630	chr11:66844355-66844356	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs12794520	chr11:66844412-66844413	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs561408451	chr11:66844427-66844428	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs11600744	chr11:66844456-66844457	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs187844671	chr11:66844464-66844465	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs540766551	chr11:66844467-66844468	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs559105347	chr11:66844495-66844496	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs201738343	chr11:66844496-66844497	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs549524093	chr11:66844501-66844502	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs558805495	chr11:66844502-66844503	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs76861780	chr11:66844505-66844506	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs12361056	chr11:66844517-66844518	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs146759236	chr11:66844521-66844522	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs192308163	chr11:66844532-66844533	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs569868002	chr11:66844554-66844555	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs575233639	chr11:66844564-66844565	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs530893748	chr11:66844604-66844605	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs549400163	chr11:66844627-66844628	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs184369265	chr11:66844642-66844643	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs145727448	chr11:66844672-66844673	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs553540508	chr11:66844679-66844680	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs116386170	chr11:66844689-66844690	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs79983115	chr11:66844748-66844749	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs557601166	chr11:66844762-66844763	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs571101041	chr11:66844775-66844776	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs141794037	chr11:66844801-66844802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs145453470	chr11:66844854-66844855	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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	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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Schizophrenia	21346763	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66825200-66849200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:66825400-66849400	Weak transcription	Ovary	ovary
3	chr11:66828000-66845600	Weak transcription	Osteobl	bone
4	chr11:66831400-66844600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:66839200-66845000	Weak transcription	Gastric	stomach
6	chr11:66839400-66844600	Weak transcription	Stomach Mucosa	stomach
7	chr11:66839400-66844800	Weak transcription	A549	lung
8	chr11:66839400-66845200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:66839400-66845800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:66839400-66849400	Weak transcription	Lung	lung
11	chr11:66839400-66849400	Weak transcription	Right Atrium	heart
12	chr11:66839400-66849400	Weak transcription	Right Ventricle	heart
13	chr11:66839600-66844600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:66839800-66844000	Strong transcription	Placenta	Placenta
15	chr11:66840200-66844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:66840200-66845800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:66840400-66845200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:66840400-66845800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:66841000-66844600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:66841000-66844600	Weak transcription	NHEK	skin
21	chr11:66841000-66844800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:66841800-66845000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:66842200-66844000	Weak transcription	K562	blood
24	chr11:66842200-66844600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:66842200-66844800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:66842200-66846000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:66842400-66844600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:66843200-66844000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr11:66843200-66844200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:66843400-66844000	Enhancers	Pancreas	Pancrea
31	chr11:66843400-66844200	Enhancers	Liver	Liver
32	chr11:66843400-66844600	Enhancers	Hela-S3	cervix
33	chr11:66843400-66846600	Enhancers	Fetal Intestine Large	intestine
34	chr11:66843400-66846600	Enhancers	GM12878-XiMat	blood
35	chr11:66843400-66846800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr11:66843600-66844600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:66843600-66847000	Enhancers	Fetal Intestine Small	intestine
38	chr11:66843800-66844000	Genic enhancers	Esophagus	oesophagus
39	chr11:66843800-66844000	Enhancers	HMEC	breast
40	chr11:66843800-66844200	Flanking Active TSS	HepG2	liver
41	chr11:66843800-66844800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:66843800-66847200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:66844000-66844200	Genic enhancers	Placenta	Placenta
44	chr11:66844000-66844400	Weak transcription	HMEC	breast
45	chr11:66844000-66844800	Weak transcription	Esophagus	oesophagus
46	chr11:66844000-66845000	Enhancers	Duodenum Mucosa	Duodenum
47	chr11:66844000-66846000	Enhancers	Fetal Muscle Leg	muscle
48	chr11:66844000-66846400	Enhancers	K562	blood
49	chr11:66844000-66849400	Weak transcription	Pancreas	Pancrea
50	chr11:66844200-66844400	Weak transcription	Placenta	Placenta

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