Variant report

Variant	esv14294
Chromosome Location	chr11:67153088-67155398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:67154577-67154848	K562	blood:	n/a	n/a
2	ELK1	chr11:67154678-67155033	K562	blood:	n/a	n/a
3	MAX	chr11:67155102-67155256	K562	blood:	n/a	chr11:67155182-67155193
4	MAX	chr11:67155232-67155249	NB4	blood:	n/a	n/a
5	MAX	chr11:67154759-67155345	K562	blood:	n/a	chr11:67155182-67155193
6	NFIC	chr11:67152100-67153094	SK-N-SH	brain:	n/a	n/a
7	NR2F2	chr11:67154639-67155084	K562	blood:	n/a	n/a
8	POLR2A	chr11:67155025-67155030	K562	blood:	n/a	n/a
9	POLR2A	chr11:67154449-67154506	ProgFib	skin:	n/a	n/a
10	POLR2A	chr11:67154650-67155002	K562	blood:	n/a	n/a
11	POLR2A	chr11:67154779-67154842	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:67155389-67155859	K562	blood:	n/a	n/a
13	POLR2A	chr11:67151226-67154054	K562	blood:	n/a	n/a
14	POLR2A	chr11:67155006-67155198	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:67154405-67154834	K562	blood:	n/a	n/a
16	TAL1	chr11:67154765-67155026	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:67149260..67151684-chr11:67155288..67159086,4	K562	blood:
2	chr11:67056170..67057702-chr11:67153694..67156620,2	MCF-7	breast:
3	chr11:67154757..67157281-chr11:67273692..67277038,3	K562	blood:
4	chr11:67154665..67156813-chr11:67157803..67159349,2	K562	blood:
5	chr11:67033643..67035508-chr11:67151370..67153756,2	MCF-7	breast:
6	chr11:67078739..67080526-chr11:67154908..67157230,2	MCF-7	breast:
7	chr11:67146395..67148840-chr11:67151114..67153909,2	K562	blood:
8	chr11:67123847..67125489-chr11:67153212..67155903,2	K562	blood:
9	chr11:67081476..67083003-chr11:67154834..67157081,2	K562	blood:
10	chr11:67150613..67154533-chr11:67231554..67235201,4	MCF-7	breast:
11	chr11:67150184..67152712-chr11:67153679..67156991,4	K562	blood:
12	chr11:67120735..67122437-chr11:67152520..67155021,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSH3-3	chr11:67155110-67155142	NONHSAT022411
2	lnc-SSH3-3	chr11:67155006-67155142	NONHSAT022395

No data

Variant related genes	Relation type
RAD9A	TF binding region
ENSG00000167797	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000173020	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000110697	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543538253	chr11:67153130-67153131	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs186708664	chr11:67153144-67153145	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs557975277	chr11:67153158-67153159	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs573786048	chr11:67153159-67153160	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs556769379	chr11:67153183-67153184	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs146947604	chr11:67153196-67153197	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs559516504	chr11:67153238-67153239	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs114919918	chr11:67153256-67153257	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs77321356	chr11:67153273-67153274	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs545316123	chr11:67153328-67153329	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs566653428	chr11:67153337-67153338	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs561757705	chr11:67153361-67153362	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs147594362	chr11:67153364-67153365	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs191178244	chr11:67153400-67153401	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs567375782	chr11:67153426-67153427	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs528584527	chr11:67153445-67153446	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs546755500	chr11:67153490-67153491	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs571843583	chr11:67153496-67153497	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs538939081	chr11:67153535-67153536	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs115257265	chr11:67153543-67153544	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569538058	chr11:67153566-67153567	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs183269944	chr11:67153579-67153580	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs534099492	chr11:67153636-67153637	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs146101139	chr11:67153640-67153641	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs574099791	chr11:67153645-67153646	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs187599968	chr11:67153652-67153653	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs546591647	chr11:67153699-67153700	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs577816297	chr11:67153701-67153702	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs193023489	chr11:67153703-67153704	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs566791740	chr11:67153708-67153709	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs142515028	chr11:67153771-67153772	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs532184241	chr11:67153786-67153787	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs185120259	chr11:67153825-67153826	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs575181708	chr11:67153932-67153933	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs542582539	chr11:67154024-67154025	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs528697198	chr11:67154051-67154052	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs188443466	chr11:67154055-67154056	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs192629738	chr11:67154109-67154110	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs570288701	chr11:67154132-67154133	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs63744962	chr11:67154153-67154154	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs563700991	chr11:67154154-67154155	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs71056199	chr11:67154160-67154161	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs398045243	chr11:67154182-67154183	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs547097229	chr11:67154250-67154251	Weak transcription Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs61891590	chr11:67154284-67154285	Weak transcription Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532778862	chr11:67154383-67154384	Weak transcription Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs550901667	chr11:67154388-67154389	Weak transcription Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs150253792	chr11:67154483-67154484	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs536964693	chr11:67154507-67154508	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs375172628	chr11:67154675-67154676	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 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
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
Myelofibrosis	22110671	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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67145200-67158400	Weak transcription	Right Atrium	heart
2	chr11:67147000-67154400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:67147200-67158600	Weak transcription	Lung	lung
4	chr11:67147400-67158200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:67147600-67156800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:67149000-67156600	Weak transcription	Colonic Mucosa	Colon
7	chr11:67150200-67154200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:67150200-67154200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:67150200-67154200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:67150200-67154400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:67150200-67154400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:67150200-67156800	Weak transcription	Spleen	Spleen
13	chr11:67150200-67158200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:67150200-67158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:67150200-67158600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:67150200-67158600	Weak transcription	Ovary	ovary
17	chr11:67150400-67154600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:67150400-67157600	Weak transcription	Right Ventricle	heart
19	chr11:67150600-67154200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:67150600-67154600	Weak transcription	K562	blood
21	chr11:67151800-67153200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:67151800-67153400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:67152000-67153200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:67152000-67153200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:67152000-67153200	Enhancers	HMEC	breast
26	chr11:67152000-67153200	Enhancers	Osteobl	bone
27	chr11:67152000-67153400	Enhancers	Brain Germinal Matrix	brain
28	chr11:67152000-67153400	Enhancers	Fetal Brain Female	brain
29	chr11:67152000-67153800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:67152200-67153200	Enhancers	Pancreas	Pancrea
31	chr11:67152400-67153200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:67152400-67153200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:67152400-67153200	Enhancers	Fetal Brain Male	brain
34	chr11:67152400-67154400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:67152400-67158400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:67152600-67153200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:67152600-67153400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:67152800-67153200	Enhancers	Hela-S3	cervix
39	chr11:67152800-67153600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:67152800-67156600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:67153000-67153600	Enhancers	A549	lung
42	chr11:67153000-67154400	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:67153000-67156800	Weak transcription	Esophagus	oesophagus
44	chr11:67153000-67157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:67153000-67157200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:67153000-67158200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:67153000-67158200	Weak transcription	Brain Anterior Caudate	brain
48	chr11:67153000-67158200	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:67153000-67158200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:67153000-67158200	Weak transcription	HSMMtube	muscle

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