Variant report

Variant	nsv524552
Chromosome Location	chr11:74080107-74092403
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74092349..74095078-chr11:74103770..74106282,2	MCF-7	breast:
2	chr11:74087058..74089421-chr11:74090926..74093848,2	MCF-7	breast:
3	chr11:74082494..74084345-chr11:74098312..74100057,2	MCF-7	breast:
4	chr11:74081090..74083546-chr11:74085874..74088231,2	MCF-7	breast:
5	chr11:74085550..74088254-chr11:74088597..74091470,2	K562	blood:
6	chr11:74085550..74088254-chr11:74088597..74091470,2	K562	blood:
7	chr11:74081090..74083546-chr11:74085874..74088231,2	MCF-7	breast:
8	chr11:74092361..74094901-chr11:74100930..74103322,2	K562	blood:
9	chr11:74085418..74089578-chr11:74097575..74099669,3	MCF-7	breast:
10	chr11:74091071..74093515-chr11:74095775..74098618,2	K562	blood:
11	chr11:74087058..74089421-chr11:74090926..74093848,2	MCF-7	breast:
12	chr11:74010289..74013142-chr11:74079571..74081272,2	K562	blood:
13	chr11:74090302..74094852-chr11:74107852..74111115,4	MCF-7	breast:
14	chr11:74081100..74084420-chr11:74107396..74110816,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254631	chromatin interactions
ENSG00000264402	chromatin interactions
ENSG00000165434	chromatin interactions

Extended variants
information (count: 430 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs480358	chr11:74080107-74080108	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575955771	chr11:74080110-74080111	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541592689	chr11:74080113-74080114	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536721683	chr11:74080116-74080117	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148062880	chr11:74080122-74080123	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533914876	chr11:74080165-74080166	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11236078	chr11:74080236-74080237	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541561804	chr11:74080256-74080257	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114086163	chr11:74080257-74080258	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533311044	chr11:74080261-74080262	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550220090	chr11:74080266-74080267	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145252016	chr11:74080277-74080278	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570330014	chr11:74080310-74080311	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536599158	chr11:74080315-74080316	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549574316	chr11:74080363-74080364	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7106149	chr11:74080364-74080365	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs151317202	chr11:74080412-74080413	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376055718	chr11:74080414-74080415	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533639461	chr11:74080428-74080429	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547426787	chr11:74080432-74080433	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570459284	chr11:74080438-74080439	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539021441	chr11:74080442-74080443	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555758416	chr11:74080443-74080444	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575918829	chr11:74080445-74080446	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535389315	chr11:74080447-74080448	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555270301	chr11:74080449-74080450	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577474884	chr11:74080450-74080451	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572246776	chr11:74080536-74080537	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555067422	chr11:74080537-74080538	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540878826	chr11:74080539-74080540	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111879647	chr11:74080543-74080544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564574836	chr11:74080587-74080588	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578045310	chr11:74080635-74080636	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543823388	chr11:74080636-74080637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373524363	chr11:74080681-74080682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563701007	chr11:74080707-74080708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529606193	chr11:74080719-74080720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191534792	chr11:74080732-74080733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73554605	chr11:74080798-74080799	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566990332	chr11:74080813-74080814	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551711655	chr11:74080818-74080819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141761923	chr11:74080849-74080850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539185454	chr11:74080850-74080851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549344756	chr11:74080882-74080883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569359590	chr11:74080902-74080903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10793078	chr11:74080909-74080910	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140467955	chr11:74080911-74080912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572270943	chr11:74080936-74080937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182605469	chr11:74080943-74080944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557702555	chr11:74080944-74080945	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74037800-74086200	Weak transcription	Brain Anterior Caudate	brain
2	chr11:74038000-74084400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:74038200-74082000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:74038200-74084400	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:74038400-74084400	Weak transcription	Liver	Liver
6	chr11:74038400-74086200	Weak transcription	Adipose Nuclei	Adipose
7	chr11:74042200-74081200	Weak transcription	Hela-S3	cervix
8	chr11:74049400-74080400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:74050800-74085800	Weak transcription	Colonic Mucosa	Colon
10	chr11:74068800-74094800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:74069400-74082800	Weak transcription	Fetal Kidney	kidney
12	chr11:74071000-74083000	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:74071800-74082600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:74072000-74080600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:74072000-74081800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:74072000-74083800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:74072000-74084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:74072000-74090200	Weak transcription	Pancreas	Pancrea
19	chr11:74072000-74092200	Weak transcription	Lung	lung
20	chr11:74072000-74095800	Weak transcription	Aorta	Aorta
21	chr11:74072200-74080400	Weak transcription	Esophagus	oesophagus
22	chr11:74072200-74080400	Weak transcription	Fetal Intestine Large	intestine
23	chr11:74072200-74081800	Weak transcription	Spleen	Spleen
24	chr11:74072200-74082400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:74072200-74082600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:74072200-74082800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:74072200-74082800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:74072200-74085800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:74072200-74085800	Weak transcription	Ovary	ovary
30	chr11:74072200-74097000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:74072400-74087200	Weak transcription	Fetal Stomach	stomach
32	chr11:74072400-74093200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:74072400-74108000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:74072600-74083000	Weak transcription	Brain Angular Gyrus	brain
35	chr11:74072800-74098200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:74075400-74095000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:74076600-74086000	Weak transcription	Dnd41	blood
38	chr11:74076800-74085800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:74077000-74081400	Strong transcription	Thymus	Thymus
40	chr11:74077000-74086200	Strong transcription	Fetal Thymus	thymus
41	chr11:74077400-74080800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:74077400-74081200	Strong transcription	Primary T cells from cord blood	blood
43	chr11:74077400-74081800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:74077400-74081800	Strong transcription	Primary B cells from cord blood	blood
45	chr11:74077400-74081800	Strong transcription	Brain Germinal Matrix	brain
46	chr11:74077400-74082000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:74077400-74084400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:74077400-74085200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:74077600-74080200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:74077600-74080400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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