Variant report

Variant	esv3433001
Chromosome Location	chr11:9105081-9105377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9098428..9102271-chr11:9102420..9106613,4	MCF-7	breast:
2	chr11:9104308..9106078-chr11:9156890..9159293,2	MCF-7	breast:
3	chr11:9104308..9107322-chr11:9124502..9128223,3	MCF-7	breast:
4	chr11:9104158..9106515-chr11:9110510..9112401,2	K562	blood:

Variant related genes	Relation type
ENSG00000264984	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369321789	chr11:9105094-9105095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372025441	chr11:9105095-9105096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530803242	chr11:9105102-9105103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572333459	chr11:9105103-9105104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541124445	chr11:9105104-9105105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79858842	chr11:9105120-9105121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543968761	chr11:9105164-9105165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs60960132	chr11:9105182-9105183	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530143393	chr11:9105187-9105188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550101145	chr11:9105222-9105223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563553637	chr11:9105227-9105228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565384812	chr11:9105239-9105240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538773783	chr11:9105247-9105248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375844009	chr11:9105277-9105278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551654536	chr11:9105294-9105295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532453809	chr11:9105328-9105329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9088200-9112400	Weak transcription	HSMM	muscle
2	chr11:9093400-9110200	Weak transcription	Pancreas	Pancrea
3	chr11:9097200-9110400	Weak transcription	Fetal Intestine Small	intestine
4	chr11:9097400-9105800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:9099400-9112200	Weak transcription	Fetal Heart	heart
6	chr11:9099600-9110800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:9100000-9111200	Weak transcription	HMEC	breast
8	chr11:9100200-9110800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:9100400-9110400	Weak transcription	Adipose Nuclei	Adipose
10	chr11:9100400-9110400	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:9100400-9111600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:9100600-9110600	Weak transcription	Fetal Stomach	stomach
13	chr11:9100800-9111200	Weak transcription	Fetal Lung	lung
14	chr11:9103400-9112400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:9104600-9110400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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