Variant report

Variant	esv11395
Chromosome Location	chr11:73542220-73544433
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	FOS	chr11:73544220-73544413	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr11:73544124-73544398	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:73544296-73544385	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:73544270-73544457	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXA1	chr11:73544144-73544368	T-47D	breast:	n/a	n/a
6	FOXA2	chr11:73544073-73544483	A549	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHCHD8-3	chr11:73543427-73543735	NONHSAT022856

Variant related genes	Relation type
RN7SKP243	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567129505	chr11:73542231-73542232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187595761	chr11:73542244-73542245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557783286	chr11:73542512-73542513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547085046	chr11:73542554-73542555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192574131	chr11:73542573-73542574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571281434	chr11:73542606-73542607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537131922	chr11:73542617-73542618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1814547	chr11:73542712-73542713	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536015426	chr11:73542753-73542754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11235923	chr11:73542756-73542757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2444606	chr11:73542800-73542801	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs536992639	chr11:73542802-73542803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552892170	chr11:73542844-73542845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7110967	chr11:73542853-73542854	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs375303729	chr11:73542883-73542884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369857438	chr11:73542899-73542900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545030431	chr11:73542900-73542901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141821830	chr11:73542912-73542913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4019304	chr11:73542985-73542986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35105476	chr11:73542986-73542987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56819723	chr11:73543008-73543009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555104871	chr11:73543051-73543052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544713905	chr11:73543088-73543089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143775495	chr11:73543114-73543115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113644071	chr11:73543202-73543203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375900477	chr11:73543322-73543323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184849636	chr11:73543325-73543326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567216637	chr11:73543327-73543328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532831337	chr11:73543345-73543346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34028101	chr11:73543415-73543416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189742247	chr11:73543437-73543438	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs369248546	chr11:73543485-73543486	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs192280014	chr11:73543526-73543527	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs1670574	chr11:73543532-73543533	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184479689	chr11:73543548-73543549	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs567242393	chr11:73543578-73543579	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs1632159	chr11:73543621-73543622	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs552730518	chr11:73543633-73543634	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs546017337	chr11:73543640-73543641	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs148127422	chr11:73543655-73543656	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs538563585	chr11:73543696-73543697	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs200536318	chr11:73543729-73543730	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs367857575	chr11:73543774-73543775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575597717	chr11:73543803-73543804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7937179	chr11:73543811-73543812	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189621691	chr11:73543829-73543830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574477263	chr11:73543836-73543837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181916605	chr11:73543908-73543909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116488755	chr11:73543934-73543935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115126037	chr11:73543950-73543951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	17142309	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
3	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
4	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
5	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
6	chr11:73500600-73549200	Weak transcription	Osteobl	bone
7	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
8	chr11:73500800-73558800	Weak transcription	NHEK	skin
9	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
10	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
12	chr11:73508800-73575400	Weak transcription	Gastric	stomach
13	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
14	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:73509000-73553200	Weak transcription	Lung	lung
16	chr11:73516000-73553200	Weak transcription	HepG2	liver
17	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:73517600-73549400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
21	chr11:73522400-73549400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:73522400-73549400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:73525600-73549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:73529800-73549200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:73530000-73549600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:73530400-73549400	Weak transcription	HSMM	muscle
27	chr11:73530600-73549200	Weak transcription	NH-A	brain
28	chr11:73530600-73549400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:73530600-73549600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:73530800-73549200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:73531000-73549200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:73531000-73549600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:73531800-73555600	Weak transcription	Fetal Kidney	kidney
34	chr11:73532000-73549400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:73532600-73546200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:73532800-73548400	Weak transcription	Fetal Heart	heart
37	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
38	chr11:73534400-73549200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:73534600-73549400	Weak transcription	A549	lung
40	chr11:73534800-73542600	Strong transcription	Fetal Intestine Large	intestine
41	chr11:73535200-73544800	Strong transcription	Dnd41	blood
42	chr11:73535200-73549600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:73535600-73545200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:73535600-73549600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:73535800-73543800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr11:73536200-73547600	Strong transcription	Fetal Stomach	stomach
47	chr11:73536400-73544400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:73536400-73545400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:73536600-73542600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:73536600-73543200	Strong transcription	Primary T cells fromperipheralblood	blood

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