Variant report

Variant	nsv975949
Chromosome Location	chr11:74064143-74070893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:74065130-74065236	H1-hESC	embryonic stem cell:	n/a	n/a
2	NR2F2	chr11:74064428-74064613	K562	blood:	n/a	n/a
3	NR2F2	chr11:74064365-74064804	K562	blood:	n/a	n/a
4	POLR2A	chr11:74065889-74065974	A549	lung:	n/a	n/a
5	TCF7L2	chr11:74070649-74070847	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPME1-3	chr11:74065488-74066765	NONHSAT022895

Variant related genes	Relation type
HNRNPA1P40	TF binding region

Extended variants
information (count: 279 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:279 , 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	rs552552930	chr11:74064186-74064187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569065948	chr11:74064190-74064191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141823370	chr11:74064221-74064222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535526031	chr11:74064227-74064228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398115503	chr11:74064228-74064229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs611901	chr11:74064229-74064230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs604998	chr11:74064231-74064232	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531598380	chr11:74064268-74064269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371358609	chr11:74064294-74064295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145949271	chr11:74064309-74064310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373421399	chr11:74064312-74064313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375071307	chr11:74064346-74064347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530252499	chr11:74064352-74064353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560297384	chr11:74064380-74064381	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs562672367	chr11:74064392-74064393	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs149630323	chr11:74064424-74064425	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576853408	chr11:74064433-74064434	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546084205	chr11:74064457-74064458	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs2639455	chr11:74064562-74064563	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569322465	chr11:74064566-74064567	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs613296	chr11:74064573-74064574	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201339992	chr11:74064609-74064610	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542361636	chr11:74064636-74064637	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs74609680	chr11:74064653-74064654	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs11604999	chr11:74064655-74064656	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs76634895	chr11:74064659-74064660	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs77069282	chr11:74064668-74064669	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs187694378	chr11:74064672-74064673	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs529780340	chr11:74064682-74064683	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs1290219	chr11:74064720-74064721	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs76157486	chr11:74064733-74064734	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs76667340	chr11:74064753-74064754	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs141045047	chr11:74064768-74064769	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs199656287	chr11:74064769-74064770	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs1292130	chr11:74064770-74064771	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs1290220	chr11:74064797-74064798	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs1290221	chr11:74064809-74064810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1290222	chr11:74064818-74064819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1279658	chr11:74064829-74064830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532187955	chr11:74064833-74064834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140883931	chr11:74064856-74064857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1292131	chr11:74064863-74064864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1292132	chr11:74064881-74064882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7929635	chr11:74064905-74064906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs630049	chr11:74064908-74064909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1298446	chr11:74064916-74064917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12802194	chr11:74064917-74064918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11236064	chr11:74064924-74064925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531532445	chr11:74064925-74064926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11605056	chr11:74064953-74064954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74031200-74071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74037400-74078800	Weak transcription	Small Intestine	intestine
3	chr11:74037800-74086200	Weak transcription	Brain Anterior Caudate	brain
4	chr11:74038000-74071200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:74038000-74077400	Weak transcription	Psoas Muscle	Psoas
6	chr11:74038000-74077600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:74038000-74084400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:74038200-74065000	Weak transcription	Aorta	Aorta
9	chr11:74038200-74071000	Weak transcription	Fetal Stomach	stomach
10	chr11:74038200-74071400	Weak transcription	Left Ventricle	heart
11	chr11:74038200-74071400	Weak transcription	Lung	lung
12	chr11:74038200-74082000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:74038200-74084400	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:74038400-74084400	Weak transcription	Liver	Liver
15	chr11:74038400-74086200	Weak transcription	Adipose Nuclei	Adipose
16	chr11:74038600-74071400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:74038800-74070600	Weak transcription	Fetal Brain Male	brain
18	chr11:74039400-74071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:74039800-74066200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:74041800-74071200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:74041800-74071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:74042000-74077600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:74042200-74065600	Weak transcription	Fetal Heart	heart
24	chr11:74042200-74081200	Weak transcription	Hela-S3	cervix
25	chr11:74044800-74079200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:74045800-74071400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr11:74045800-74073200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:74046000-74071800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:74047200-74071200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:74047800-74068400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:74047800-74077600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:74048000-74070800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:74048400-74077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:74049400-74071800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:74049400-74080400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:74049600-74070800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:74049800-74077400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:74050400-74070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:74050800-74071000	Weak transcription	Fetal Intestine Small	intestine
40	chr11:74050800-74085800	Weak transcription	Colonic Mucosa	Colon
41	chr11:74051000-74071400	Weak transcription	Gastric	stomach
42	chr11:74051000-74071400	Weak transcription	Pancreas	Pancrea
43	chr11:74051200-74067200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:74051200-74070800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:74052400-74064600	Weak transcription	Brain Angular Gyrus	brain
46	chr11:74052400-74071000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:74052400-74071200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:74053200-74070400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:74053200-74071400	Weak transcription	Ovary	ovary
50	chr11:74053400-74071600	Weak transcription	Fetal Muscle Leg	muscle

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