Variant report

Variant	nsv555252
Chromosome Location	chr11:66910826-66916392
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:11)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66906510..66908110-chr11:66912179..66913984,2	K562	blood:
2	chr11:66903289..66906523-chr11:66908304..66911328,3	MCF-7	breast:
3	chr11:66912440..66914149-chr11:66918816..66921683,2	K562	blood:
4	chr11:66886250..66888130-chr11:66911603..66914118,3	MCF-7	breast:
5	chr11:66822677..66825617-chr11:66914888..66917591,3	MCF-7	breast:
6	chr11:66914768..66917555-chr16:2198900..2201411,2	MCF-7	breast:
7	chr11:66913392..66915681-chr11:66919440..66921256,2	MCF-7	breast:
8	chr11:66887316..66889399-chr11:66912430..66914631,3	K562	blood:
9	chr11:66886679..66888867-chr11:66909450..66913020,3	MCF-7	breast:
10	chr11:66886471..66888676-chr11:66910989..66913125,2	K562	blood:
11	chr11:66886542..66888789-chr11:66915114..66917088,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOD-1	chr11:66915445-66915734	refGeneNc_1279_NR_024469
2	lnc-RHOD-1	chr11:66911582-66911718	refGeneNc_1279_NR_024469
3	lnc-RHOD-4	chr11:66910675-66910842	NONHSAT022378

No data

Variant related genes	Relation type
ENSG00000167964	chromatin interactions
ENSG00000173120	chromatin interactions
ENSG00000173156	chromatin interactions

Extended variants
information (count: 231 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:231 , 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	rs4375446	chr11:66910826-66910827	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528659702	chr11:66910833-66910834	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs547185034	chr11:66910853-66910854	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183618399	chr11:66910863-66910864	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532857741	chr11:66910865-66910866	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551355000	chr11:66910892-66910893	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569658381	chr11:66910998-66910999	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189510008	chr11:66911043-66911044	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529755145	chr11:66911071-66911072	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74332695	chr11:66911084-66911085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567389450	chr11:66911114-66911115	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534485352	chr11:66911118-66911119	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192644437	chr11:66911126-66911127	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76863019	chr11:66911128-66911129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549714656	chr11:66911166-66911167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538557843	chr11:66911167-66911168	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556880599	chr11:66911178-66911179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369410691	chr11:66911260-66911261	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542643788	chr11:66911349-66911350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561189711	chr11:66911352-66911353	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573307682	chr11:66911374-66911375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373125477	chr11:66911380-66911381	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565160366	chr11:66911400-66911401	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560706398	chr11:66911415-66911416	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532794627	chr11:66911425-66911426	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12419315	chr11:66911427-66911428	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563203234	chr11:66911451-66911452	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139742162	chr11:66911463-66911464	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548979645	chr11:66911464-66911465	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567223580	chr11:66911642-66911643	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs368737787	chr11:66911644-66911645	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs185665522	chr11:66911652-66911653	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs535672022	chr11:66911653-66911654	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs547747901	chr11:66911696-66911697	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs77557562	chr11:66911738-66911739	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538495765	chr11:66911763-66911764	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12417887	chr11:66911831-66911832	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575184174	chr11:66911870-66911871	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190090162	chr11:66911874-66911875	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs150928217	chr11:66911892-66911893	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573215118	chr11:66911906-66911907	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536256216	chr11:66911984-66911985	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540711585	chr11:66912004-66912005	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548276584	chr11:66912012-66912013	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566458035	chr11:66912018-66912019	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140746824	chr11:66912048-66912049	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11227708	chr11:66912052-66912053	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181758106	chr11:66912123-66912124	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536692335	chr11:66912163-66912164	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76317192	chr11:66912218-66912219	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66888600-66922600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:66889000-66920400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:66889800-66923400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:66890000-66912800	Weak transcription	Psoas Muscle	Psoas
5	chr11:66890200-66920000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:66890800-66912600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:66890800-66923000	Strong transcription	Fetal Thymus	thymus
8	chr11:66892600-66914000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:66892800-66911800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:66892800-66912600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:66892800-66913000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:66893200-66923000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:66893200-66923400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:66894200-66911400	Strong transcription	Adipose Nuclei	Adipose
15	chr11:66894400-66922400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:66895200-66915800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:66895600-66911000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:66895600-66922000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:66895800-66911600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:66896600-66912800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:66897200-66916000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:66898200-66911800	Strong transcription	Placenta	Placenta
23	chr11:66898200-66913000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:66898400-66915600	Strong transcription	Fetal Intestine Large	intestine
25	chr11:66899200-66918400	Weak transcription	Small Intestine	intestine
26	chr11:66899400-66912600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:66899400-66913200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:66900400-66921200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:66900400-66933800	Weak transcription	Esophagus	oesophagus
30	chr11:66901400-66911600	Strong transcription	Brain Cingulate Gyrus	brain
31	chr11:66902400-66920600	Weak transcription	Ovary	ovary
32	chr11:66903000-66934000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:66903400-66925600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:66904000-66911200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:66904000-66918000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:66904200-66919800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:66904400-66918000	Weak transcription	Right Ventricle	heart
38	chr11:66904400-66918200	Weak transcription	Brain Angular Gyrus	brain
39	chr11:66904400-66922800	Weak transcription	Colonic Mucosa	Colon
40	chr11:66904400-66934000	Weak transcription	K562	blood
41	chr11:66904600-66918000	Weak transcription	Fetal Brain Male	brain
42	chr11:66904600-66918200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:66904600-66928400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:66904800-66915400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:66904800-66917400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:66904800-66917400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:66904800-66918200	Weak transcription	HSMMtube	muscle
48	chr11:66904800-66927200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:66904800-66930400	Weak transcription	Fetal Heart	heart
50	chr11:66905000-66916800	Weak transcription	Fetal Kidney	kidney

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