Variant report

Variant	esv1802101
Chromosome Location	chr9:14125907-14137320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14129365..14131688-chr9:14315124..14316726,2	MCF-7	breast:
2	chr9:14137259..14139020-chr9:14141233..14143337,2	MCF-7	breast:
3	chr9:14131132..14132855-chr9:14133037..14134581,2	MCF-7	breast:
4	chr9:14129327..14131170-chr9:14138770..14141769,2	K562	blood:
5	chr9:14129341..14131610-chr9:14315696..14318549,3	MCF-7	breast:
6	chr9:14131132..14132855-chr9:14133037..14134581,2	MCF-7	breast:
7	chr9:14135764..14138291-chr9:14312357..14314821,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	chromatin interactions
ENSG00000225472	chromatin interactions

Extended variants
information (count: 484 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16931382	chr9:14125907-14125908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76667969	chr9:14125908-14125909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530916811	chr9:14125994-14125995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550514027	chr9:14125997-14125998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138676819	chr9:14126050-14126051	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377532824	chr9:14126056-14126057	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116491380	chr9:14126128-14126129	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566679781	chr9:14126136-14126137	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538798142	chr9:14126140-14126141	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190579883	chr9:14126161-14126162	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528135104	chr9:14126164-14126165	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142743915	chr9:14126171-14126172	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537943472	chr9:14126186-14126187	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554751824	chr9:14126204-14126205	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370167658	chr9:14126213-14126214	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568611347	chr9:14126214-14126215	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78771410	chr9:14126237-14126238	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147385813	chr9:14126243-14126244	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559975956	chr9:14126244-14126245	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573481518	chr9:14126245-14126246	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546978200	chr9:14126323-14126324	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565368359	chr9:14126324-14126325	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181761753	chr9:14126350-14126351	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186593029	chr9:14126377-14126378	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531179416	chr9:14126404-14126405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544287122	chr9:14126450-14126451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373278054	chr9:14126462-14126463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561079457	chr9:14126484-14126485	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139878199	chr9:14126553-14126554	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191954757	chr9:14126557-14126558	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566727331	chr9:14126564-14126565	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532314953	chr9:14126613-14126614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552303518	chr9:14126614-14126615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377479221	chr9:14126673-14126674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538081923	chr9:14126686-14126687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554692388	chr9:14126691-14126692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568192390	chr9:14126718-14126719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35870361	chr9:14126764-14126765	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182785879	chr9:14126784-14126785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199691616	chr9:14126788-14126789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545371051	chr9:14126791-14126792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559239977	chr9:14126818-14126819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575418410	chr9:14126870-14126871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185737254	chr9:14126874-14126875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569747110	chr9:14126878-14126879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530147799	chr9:14126886-14126887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113763465	chr9:14126926-14126927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149414634	chr9:14126952-14126953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560289211	chr9:14126964-14126965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60606808	chr9:14126977-14126978	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Glycine encephalopathy	21572526	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14097400-14135400	Weak transcription	HSMMtube	muscle
2	chr9:14101800-14128200	Weak transcription	Esophagus	oesophagus
3	chr9:14103400-14128400	Weak transcription	Brain Angular Gyrus	brain
4	chr9:14107000-14126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:14108000-14127400	Weak transcription	Stomach Mucosa	stomach
6	chr9:14108800-14143800	Weak transcription	Fetal Intestine Small	intestine
7	chr9:14110000-14128400	Weak transcription	Fetal Kidney	kidney
8	chr9:14110200-14127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:14115400-14127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:14116200-14127000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr9:14116400-14137800	Weak transcription	Small Intestine	intestine
12	chr9:14116600-14128000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:14116600-14133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:14116800-14128600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:14116800-14156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
19	chr9:14117400-14130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:14118400-14126200	Weak transcription	HSMM	muscle
21	chr9:14118400-14127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:14120200-14159000	Weak transcription	NHLF	lung
23	chr9:14120400-14130200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:14120600-14126400	Weak transcription	Fetal Brain Male	brain
25	chr9:14120600-14127000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:14120600-14127600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:14120600-14128400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr9:14120600-14130400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:14120600-14131400	Weak transcription	Pancreas	Pancrea
30	chr9:14120600-14132600	Weak transcription	Psoas Muscle	Psoas
31	chr9:14120600-14133600	Weak transcription	Right Ventricle	heart
32	chr9:14120600-14151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:14120600-14154800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:14120600-14159000	Weak transcription	NH-A	brain
35	chr9:14120800-14135400	Weak transcription	NHEK	skin
36	chr9:14121000-14126000	Weak transcription	Fetal Heart	heart
37	chr9:14121200-14127000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:14121600-14129000	Weak transcription	Brain Hippocampus Middle	brain
39	chr9:14121600-14143600	Weak transcription	Brain Substantia Nigra	brain
40	chr9:14122000-14127600	Strong transcription	HUVEC	blood vessel
41	chr9:14122200-14126800	Strong transcription	Fetal Brain Female	brain
42	chr9:14122400-14127600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr9:14122800-14127000	Strong transcription	Fetal Muscle Leg	muscle
44	chr9:14123000-14126000	Weak transcription	A549	lung
45	chr9:14123000-14128000	Weak transcription	Fetal Intestine Large	intestine
46	chr9:14123800-14136000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:14123800-14198600	Weak transcription	Gastric	stomach
48	chr9:14124000-14126800	Strong transcription	Colon Smooth Muscle	Colon
49	chr9:14124000-14130000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:14124200-14126200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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