Variant report

Variant	esv15598
Chromosome Location	chr9:117216616-117223475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:117213718..117215959-chr9:117219451..117221821,2	MCF-7	breast:
2	chr9:117215610..117219815-chr9:117220644..117223512,4	MCF-7	breast:
3	chr9:117215610..117219815-chr9:117220644..117223512,4	MCF-7	breast:
4	chr9:117222478..117225235-chr9:117348495..117351490,2	MCF-7	breast:
5	chr9:117214514..117216768-chr9:117220298..117222829,3	K562	blood:
6	chr9:117214514..117216768-chr9:117220298..117222829,3	K562	blood:

Variant related genes	Relation type
ENSG00000136888	chromatin interactions

Extended variants
information (count: 302 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35923774	chr9:117216625-117216626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397691997	chr9:117216626-117216627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201042962	chr9:117216627-117216628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35363535	chr9:117216643-117216644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144691657	chr9:117216760-117216761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7028602	chr9:117216819-117216820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs200716816	chr9:117216839-117216840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7042988	chr9:117216872-117216873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7043401	chr9:117216891-117216892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561312342	chr9:117216892-117216893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12683286	chr9:117216911-117216912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35695225	chr9:117216925-117216926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540718301	chr9:117216932-117216933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35467402	chr9:117216965-117216966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386361501	chr9:117216966-117216967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535993478	chr9:117216967-117216968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79535441	chr9:117216968-117216969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397964037	chr9:117216977-117216978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546535411	chr9:117217010-117217011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188914239	chr9:117217026-117217027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552821873	chr9:117217033-117217034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569423651	chr9:117217044-117217045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532011700	chr9:117217062-117217063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7870731	chr9:117217146-117217147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568039777	chr9:117217147-117217148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140279646	chr9:117217165-117217166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13295687	chr9:117217196-117217197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1535967	chr9:117217240-117217241	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114998870	chr9:117217255-117217256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1535968	chr9:117217277-117217278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200326497	chr9:117217287-117217288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371683714	chr9:117217288-117217289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1535969	chr9:117217326-117217327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370277034	chr9:117217342-117217343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10982224	chr9:117217345-117217346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368089337	chr9:117217376-117217377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555412942	chr9:117217393-117217394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17371434	chr9:117217443-117217444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368230284	chr9:117217452-117217453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77752283	chr9:117217453-117217454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372501330	chr9:117217454-117217455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540643076	chr9:117217481-117217482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142021302	chr9:117217495-117217496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138940978	chr9:117217496-117217497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56173305	chr9:117217514-117217515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371692858	chr9:117217562-117217563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185196291	chr9:117217573-117217574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532676780	chr9:117217584-117217585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568569754	chr9:117217601-117217602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189109473	chr9:117217628-117217629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Melanoma	17363583	CNVD
Retinoblastoma	19183342	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117203000-117237800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:117203400-117226800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:117209400-117223000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:117211800-117227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:117212000-117227400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:117212800-117222200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:117213000-117223000	Weak transcription	Brain Anterior Caudate	brain
8	chr9:117213400-117222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:117213400-117223200	Weak transcription	Fetal Stomach	stomach
10	chr9:117213800-117220800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:117214800-117221800	Weak transcription	Pancreas	Pancrea
12	chr9:117214800-117223000	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:117215000-117222800	Weak transcription	Brain Angular Gyrus	brain
14	chr9:117215200-117217000	Weak transcription	Brain Substantia Nigra	brain
15	chr9:117215200-117218000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:117215200-117219000	Weak transcription	Stomach Mucosa	stomach
17	chr9:117215200-117222200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:117215200-117222600	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:117215400-117221800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:117215400-117223600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:117215400-117226600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:117215600-117217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:117215600-117227200	Weak transcription	Thymus	Thymus
24	chr9:117215600-117227400	Weak transcription	Spleen	Spleen
25	chr9:117215800-117226600	Weak transcription	Fetal Intestine Small	intestine
26	chr9:117216600-117234800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:117216800-117217800	Enhancers	HepG2	liver
28	chr9:117217000-117217200	Enhancers	Brain Substantia Nigra	brain
29	chr9:117217200-117217600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:117217200-117217600	Weak transcription	Brain Substantia Nigra	brain
31	chr9:117217600-117217800	Enhancers	Brain Substantia Nigra	brain
32	chr9:117217600-117226000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:117217800-117223000	Weak transcription	Brain Substantia Nigra	brain
34	chr9:117217800-117242600	Weak transcription	HepG2	liver
35	chr9:117218400-117232200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:117219000-117219400	Enhancers	Stomach Mucosa	stomach
37	chr9:117219200-117219600	Enhancers	A549	lung
38	chr9:117219400-117222800	Weak transcription	Stomach Mucosa	stomach
39	chr9:117220400-117246600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr9:117220600-117222200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr9:117220800-117221000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:117221000-117221800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:117221200-117221400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr9:117221400-117222600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr9:117221800-117222000	Enhancers	Fetal Muscle Trunk	muscle
46	chr9:117221800-117222400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:117221800-117222600	Enhancers	Pancreas	Pancrea
48	chr9:117221800-117223800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr9:117221800-117224000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:117221800-117224000	Enhancers	Brain Germinal Matrix	brain

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