Variant report

Variant	nsv555248
Chromosome Location	chr11:66908750-66915614
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:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66886471..66888676-chr11:66910989..66913125,2	K562	blood:
2	chr11:66886679..66888867-chr11:66909450..66913020,3	MCF-7	breast:
3	chr11:66912440..66914149-chr11:66918816..66921683,2	K562	blood:
4	chr11:66913392..66915681-chr11:66919440..66921256,2	MCF-7	breast:
5	chr11:66903289..66906523-chr11:66908304..66911328,3	MCF-7	breast:
6	chr11:66822677..66825617-chr11:66914888..66917591,3	MCF-7	breast:
7	chr11:66887316..66889399-chr11:66912430..66914631,3	K562	blood:
8	chr11:66914768..66917555-chr16:2198900..2201411,2	MCF-7	breast:
9	chr11:66899050..66903329-chr11:66906859..66910351,4	MCF-7	breast:
10	chr11:66906510..66908110-chr11:66912179..66913984,2	K562	blood:
11	chr11:66886250..66888130-chr11:66911603..66914118,3	MCF-7	breast:
12	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-4	chr11:66910675-66910842	NONHSAT022378
2	lnc-RHOD-1	chr11:66915445-66915734	refGeneNc_1279_NR_024469
3	lnc-RHOD-1	chr11:66911582-66911718	refGeneNc_1279_NR_024469

No data

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

Extended variants
information (count: 280 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11227706	chr11:66908750-66908751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545569365	chr11:66908755-66908756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564212571	chr11:66908760-66908761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184020112	chr11:66908771-66908772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532739782	chr11:66908822-66908823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576280287	chr11:66908825-66908826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376376051	chr11:66908859-66908860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561928772	chr11:66908865-66908866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529195018	chr11:66908904-66908905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373611385	chr11:66909037-66909038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188567622	chr11:66909054-66909055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367747123	chr11:66909063-66909064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193067096	chr11:66909132-66909133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200949810	chr11:66909154-66909155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375467196	chr11:66909155-66909156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs68165420	chr11:66909157-66909158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201740869	chr11:66909159-66909160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375674067	chr11:66909172-66909173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370487904	chr11:66909213-66909214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371544278	chr11:66909248-66909249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143092698	chr11:66909391-66909392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551458812	chr11:66909397-66909398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569844196	chr11:66909440-66909441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150611220	chr11:66909442-66909443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549183454	chr11:66909448-66909449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72926998	chr11:66909456-66909457	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567922414	chr11:66909472-66909473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200062952	chr11:66909475-66909476	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535013430	chr11:66909531-66909532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553690536	chr11:66909532-66909533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565534409	chr11:66909533-66909534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539444712	chr11:66909548-66909549	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1619090	chr11:66909550-66909551	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138747659	chr11:66909572-66909573	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs36085596	chr11:66909573-66909574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371971917	chr11:66909579-66909580	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183140310	chr11:66909589-66909590	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559819738	chr11:66909591-66909592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187053615	chr11:66909603-66909604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540958191	chr11:66909610-66909611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559647164	chr11:66909668-66909669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559161410	chr11:66909669-66909670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs60287734	chr11:66909692-66909693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533152713	chr11:66909716-66909717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577469368	chr11:66909754-66909755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544959084	chr11:66909783-66909784	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs71462367	chr11:66909788-66909789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563410014	chr11:66909798-66909799	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530935586	chr11:66909799-66909800	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549122097	chr11:66909871-66909872	Weak transcription Strong transcription	Chromatin interactive region	1 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:307 , 50 per page) page: 1 2 3 4 5 6 7

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	chr11:66890400-66909400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:66890800-66912600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:66890800-66923000	Strong transcription	Fetal Thymus	thymus
9	chr11:66891400-66908800	Strong transcription	Fetal Muscle Leg	muscle
10	chr11:66892600-66914000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:66892800-66911800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:66892800-66912600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:66892800-66913000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:66893200-66923000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:66893200-66923400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:66894000-66909000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:66894200-66911400	Strong transcription	Adipose Nuclei	Adipose
18	chr11:66894400-66922400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:66894600-66909800	Strong transcription	GM12878-XiMat	blood
20	chr11:66895000-66909600	Strong transcription	Dnd41	blood
21	chr11:66895200-66915800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:66895600-66911000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:66895600-66922000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:66895800-66911600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:66896200-66909800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:66896600-66912800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:66897200-66916000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:66897800-66908800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:66898000-66909600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:66898200-66911800	Strong transcription	Placenta	Placenta
31	chr11:66898200-66913000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:66898400-66915600	Strong transcription	Fetal Intestine Large	intestine
33	chr11:66899200-66908800	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr11:66899200-66918400	Weak transcription	Small Intestine	intestine
35	chr11:66899400-66912600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:66899400-66913200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:66899600-66909800	Strong transcription	Liver	Liver
38	chr11:66900400-66921200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr11:66900400-66933800	Weak transcription	Esophagus	oesophagus
40	chr11:66901400-66911600	Strong transcription	Brain Cingulate Gyrus	brain
41	chr11:66902200-66909000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:66902400-66920600	Weak transcription	Ovary	ovary
43	chr11:66902600-66910600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:66903000-66934000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:66903400-66925600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:66904000-66911200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:66904000-66918000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:66904200-66910600	Weak transcription	Brain Substantia Nigra	brain
49	chr11:66904200-66919800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:66904400-66918000	Weak transcription	Right Ventricle	heart

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