Variant report

Variant	esv3441638
Chromosome Location	chr9:117252846-117253292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:117251302..117252928-chr9:117351166..117353449,2	K562	blood:
2	chr9:117248365..117250342-chr9:117251852..117253690,2	MCF-7	breast:
3	chr9:117251818..117256354-chr9:117261161..117269778,10	MCF-7	breast:
4	chr9:117160416..117162194-chr9:117250810..117253208,2	K562	blood:

Variant related genes	Relation type
ENSG00000095397	chromatin interactions
ENSG00000235119	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200114757	chr9:117252850-117252851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs35866231	chr9:117252851-117252852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10676839	chr9:117252853-117252854	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372076077	chr9:117252854-117252855	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536949041	chr9:117252859-117252860	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556097020	chr9:117252865-117252866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576397539	chr9:117252920-117252921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535548227	chr9:117252931-117252932	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs80291872	chr9:117253027-117253028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147624453	chr9:117253054-117253055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375076934	chr9:117253115-117253116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572481626	chr9:117253141-117253142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs35175372	chr9:117253160-117253161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541603061	chr9:117253167-117253168	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564715692	chr9:117253173-117253174	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs578238400	chr9:117253232-117253233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200800890	chr9:117253244-117253245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7046403	chr9:117253252-117253253	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149757569	chr9:117253264-117253265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117240000-117266600	Weak transcription	Gastric	stomach
2	chr9:117241000-117255800	Weak transcription	Fetal Intestine Small	intestine
3	chr9:117241600-117259800	Weak transcription	Thymus	Thymus
4	chr9:117244200-117253600	Weak transcription	Fetal Stomach	stomach
5	chr9:117245000-117266600	Weak transcription	Right Atrium	heart
6	chr9:117245200-117253800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:117245400-117253800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:117247400-117254000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:117247600-117256000	Weak transcription	Pancreas	Pancrea
10	chr9:117247600-117264400	Weak transcription	Ovary	ovary
11	chr9:117247600-117266400	Weak transcription	Esophagus	oesophagus
12	chr9:117247800-117253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:117249400-117253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:117249400-117258400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:117250000-117253800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:117250400-117253600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:117250400-117253800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:117250400-117253800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:117250400-117253800	Weak transcription	Fetal Thymus	thymus
20	chr9:117250400-117254600	Weak transcription	K562	blood
21	chr9:117250400-117255800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr9:117250400-117257200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:117250400-117257200	Weak transcription	Brain Substantia Nigra	brain
24	chr9:117250400-117258800	Weak transcription	Brain Anterior Caudate	brain
25	chr9:117250400-117260800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:117250400-117264400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:117250600-117256200	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:117250600-117262800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr9:117250800-117253400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:117250800-117256800	Weak transcription	Spleen	Spleen
31	chr9:117251000-117257400	Weak transcription	Brain Germinal Matrix	brain
32	chr9:117251200-117264000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:117251400-117258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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