Variant report

Variant	esv1842510
Chromosome Location	chr9:136617805-136626037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136623159..136624701-chr9:136627803..136630667,2	K562	blood:
2	chr9:136622818..136624758-chr9:136635199..136637676,2	MCF-7	breast:
3	chr9:136625089..136627399-chr9:136858004..136860328,2	MCF-7	breast:
4	chr9:136623857..136625916-chr9:136737465..136739989,2	MCF-7	breast:
5	chr9:136622701..136625023-chr9:136856638..136859174,2	MCF-7	breast:
6	chr9:136606898..136609884-chr9:136619797..136622653,2	MCF-7	breast:
7	chr9:136617189..136619895-chr9:136623419..136625619,3	MCF-7	breast:
8	chr9:136622711..136625053-chr9:136627344..136629303,3	MCF-7	breast:
9	chr9:136617189..136619895-chr9:136623419..136625619,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DBH-2	chr9:136619187-136619393	XLOC_007595
2	lnc-DBH-2	chr9:136619625-136620083	XLOC_007595

No data

Variant related genes	Relation type
ENSG00000160293	chromatin interactions
ENSG00000256225	chromatin interactions

Extended variants
information (count: 433 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs495817	chr9:136617805-136617806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190546700	chr9:136617823-136617824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556905513	chr9:136617845-136617846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368039721	chr9:136617847-136617848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371602930	chr9:136617849-136617850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116722235	chr9:136617850-136617851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543294039	chr9:136617851-136617852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555220515	chr9:136617879-136617880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs517702	chr9:136617895-136617896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10993785	chr9:136617904-136617905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79986038	chr9:136617924-136617925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs518501	chr9:136617948-136617949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs518539	chr9:136617957-136617958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10993786	chr9:136617973-136617974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181986072	chr9:136617974-136617975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140218344	chr9:136617986-136617987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549696586	chr9:136618008-136618009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2519999	chr9:136618025-136618026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528297920	chr9:136618053-136618054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs679696	chr9:136618067-136618068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs519471	chr9:136618075-136618076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538685748	chr9:136618101-136618102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550306143	chr9:136618112-136618113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568839636	chr9:136618122-136618123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142965926	chr9:136618128-136618129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186141622	chr9:136618180-136618181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374813387	chr9:136618183-136618184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534176074	chr9:136618215-136618216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189006470	chr9:136618222-136618223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73550007	chr9:136618238-136618239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544648076	chr9:136618306-136618307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs521446	chr9:136618314-136618315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs574527242	chr9:136618361-136618362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541799930	chr9:136618413-136618414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560894460	chr9:136618415-136618416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371757761	chr9:136618452-136618453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs523167	chr9:136618477-136618478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546485246	chr9:136618485-136618486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565042408	chr9:136618505-136618506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532127144	chr9:136618520-136618521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151046756	chr9:136618530-136618531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568960943	chr9:136618545-136618546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140935334	chr9:136618567-136618568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548207251	chr9:136618590-136618591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150220438	chr9:136618591-136618592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117870334	chr9:136618613-136618614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2797827	chr9:136618634-136618635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs78603370	chr9:136618642-136618643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537970811	chr9:136618694-136618695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2520000	chr9:136618716-136618717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:89)

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
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136616200-136620800	Enhancers	HepG2	liver
2	chr9:136616600-136618600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:136616800-136621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:136617000-136618000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:136617000-136618200	Enhancers	Fetal Thymus	thymus
6	chr9:136617000-136620600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:136617000-136629000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:136617400-136628800	Weak transcription	HSMM	muscle
9	chr9:136617600-136618000	Enhancers	Primary T cells from cord blood	blood
10	chr9:136617800-136618000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr9:136617800-136620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:136618000-136628200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:136618200-136619400	Enhancers	Liver	Liver
14	chr9:136618400-136618600	Enhancers	Fetal Intestine Small	intestine
15	chr9:136618400-136623000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:136618800-136624000	Weak transcription	Brain Germinal Matrix	brain
17	chr9:136619400-136619600	Enhancers	Lung	lung
18	chr9:136619400-136620000	Weak transcription	Liver	Liver
19	chr9:136619400-136620200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:136619400-136629200	Weak transcription	HSMMtube	muscle
21	chr9:136619600-136620400	Enhancers	Fetal Lung	lung
22	chr9:136619600-136626000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:136619600-136626600	Weak transcription	Lung	lung
24	chr9:136619600-136631200	Weak transcription	Fetal Brain Male	brain
25	chr9:136619800-136620200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:136619800-136620400	Enhancers	Primary hematopoietic stem cells	blood
27	chr9:136619800-136620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:136619800-136620400	Enhancers	NHDF-Ad	bronchial
29	chr9:136619800-136620800	Enhancers	Fetal Muscle Leg	muscle
30	chr9:136620000-136620200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:136620000-136620200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr9:136620000-136620200	Enhancers	Liver	Liver
33	chr9:136620000-136620200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr9:136620000-136620200	Enhancers	Fetal Stomach	stomach
35	chr9:136620000-136620200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr9:136620000-136620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:136620000-136620400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr9:136620000-136620400	Bivalent Enhancer	Placenta	Placenta
39	chr9:136620000-136620800	Enhancers	Fetal Intestine Small	intestine
40	chr9:136620200-136620400	Enhancers	Osteobl	bone
41	chr9:136620200-136620600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:136620200-136620600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:136620200-136620800	Enhancers	Fetal Muscle Trunk	muscle
44	chr9:136620200-136620800	Enhancers	Ovary	ovary
45	chr9:136620200-136621600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:136620200-136623000	Weak transcription	Liver	Liver
47	chr9:136620200-136623400	Weak transcription	Fetal Stomach	stomach
48	chr9:136620200-136626000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr9:136620200-136626600	Weak transcription	Pancreas	Pancrea
50	chr9:136620200-136626600	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links