Variant report

Variant	esv2325810
Chromosome Location	chr11:72347875-72348399
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	CEBPB	chr11:72348213-72348559	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:72348264-72348515	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr11:72348199-72348421	Hela-S3	cervix:	n/a	n/a
4	MAX	chr11:72348146-72348788	HCT-116	colon:	n/a	chr11:72348379-72348388 chr11:72348209-72348219
5	MAX	chr11:72348249-72348513	Hela-S3	cervix:	n/a	chr11:72348379-72348388
6	MAX	chr11:72348151-72348569	H1-hESC	embryonic stem cell:	n/a	chr11:72348379-72348388 chr11:72348209-72348219

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72345729..72347708-chr11:72348323..72351528,4	K562	blood:
2	chr11:72340095..72342278-chr11:72348258..72351014,2	MCF-7	breast:

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000186642	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180767186	chr11:72347954-72347955	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs61895574	chr11:72347988-72347989	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551569693	chr11:72347998-72347999	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566631851	chr11:72348018-72348019	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs877133	chr11:72348023-72348024	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs56133505	chr11:72348039-72348040	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186621850	chr11:72348076-72348077	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567692237	chr11:72348089-72348090	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4944608	chr11:72348106-72348107	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553254892	chr11:72348110-72348111	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188515132	chr11:72348115-72348116	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544393041	chr11:72348137-72348138	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545187856	chr11:72348163-72348164	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs181607629	chr11:72348244-72348245	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575229977	chr11:72348277-72348278	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs533040870	chr11:72348315-72348316	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560715554	chr11:72348322-72348323	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Lung cancer	18438408	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	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
Chronic lymphocytic leukemia	22228453	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
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
2	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr11:72335800-72349000	Enhancers	Fetal Brain Male	brain
4	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
5	chr11:72336000-72350400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:72337800-72348200	Weak transcription	Gastric	stomach
7	chr11:72338400-72348200	Weak transcription	Ovary	ovary
8	chr11:72339000-72350600	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:72340200-72349400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:72340400-72349400	Enhancers	Fetal Brain Female	brain
11	chr11:72341600-72349400	Enhancers	Brain Anterior Caudate	brain
12	chr11:72342600-72349400	Enhancers	HUVEC	blood vessel
13	chr11:72343400-72348200	Weak transcription	Liver	Liver
14	chr11:72343400-72350200	Enhancers	Right Atrium	heart
15	chr11:72343400-72351000	Weak transcription	Esophagus	oesophagus
16	chr11:72343600-72348600	Weak transcription	Pancreas	Pancrea
17	chr11:72343600-72349600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr11:72343600-72350800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:72343600-72351000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:72343800-72348000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:72344600-72349600	Enhancers	Stomach Smooth Muscle	stomach
22	chr11:72344600-72351600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:72345800-72348200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:72345800-72350400	Enhancers	Colon Smooth Muscle	Colon
25	chr11:72346000-72348800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr11:72346400-72349000	Weak transcription	Psoas Muscle	Psoas
27	chr11:72346400-72349400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr11:72346600-72348800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:72346600-72350400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr11:72346800-72348000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr11:72346800-72348400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr11:72346800-72349000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr11:72346800-72349200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:72346800-72351600	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr11:72347000-72348200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:72347000-72350800	Enhancers	Spleen	Spleen
37	chr11:72347200-72348400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:72347200-72348600	Weak transcription	Lung	lung
39	chr11:72347200-72351000	Enhancers	Brain Angular Gyrus	brain
40	chr11:72347400-72348600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:72347400-72349000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr11:72347400-72349000	Weak transcription	Fetal Lung	lung
43	chr11:72347400-72349200	Weak transcription	Brain Germinal Matrix	brain
44	chr11:72347600-72349400	Enhancers	Hela-S3	cervix
45	chr11:72347600-72351000	Enhancers	Right Ventricle	heart
46	chr11:72347800-72349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:72348000-72348800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:72348200-72348400	Enhancers	Ovary	ovary
49	chr11:72348200-72348800	Enhancers	Gastric	stomach
50	chr11:72348200-72349200	Enhancers	Adipose Nuclei	Adipose

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