Variant report

Variant	esv3376495
Chromosome Location	chr9:19099167-19099523
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:19098429..19101130-chr9:19101314..19102834,2	MCF-7	breast:
2	chr9:19095545..19097905-chr9:19098403..19100459,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79321238	chr9:19099167-19099168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149869558	chr9:19099170-19099171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75830424	chr9:19099181-19099182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555320554	chr9:19099207-19099208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191038627	chr9:19099223-19099224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533048481	chr9:19099224-19099225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183715353	chr9:19099226-19099227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201880624	chr9:19099235-19099236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188191993	chr9:19099242-19099243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558279767	chr9:19099258-19099259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576740194	chr9:19099289-19099290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200292139	chr9:19099299-19099300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201685382	chr9:19099318-19099319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374051155	chr9:19099325-19099326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202023013	chr9:19099374-19099375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200355744	chr9:19099389-19099390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537878775	chr9:19099392-19099393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193146579	chr9:19099401-19099402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201603105	chr9:19099434-19099435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559519875	chr9:19099442-19099443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574570183	chr9:19099452-19099453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113616888	chr9:19099454-19099455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28753724	chr9:19099459-19099460	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184073954	chr9:19099495-19099496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200567369	chr9:19099499-19099500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187713862	chr9:19099500-19099501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191399341	chr9:19099501-19099502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565149809	chr9:19099514-19099515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532508301	chr9:19099520-19099521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	21811587	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19051600-19101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:19054800-19100800	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:19056000-19101200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:19062000-19102200	Weak transcription	Stomach Mucosa	stomach
5	chr9:19066800-19100400	Weak transcription	Fetal Heart	heart
6	chr9:19066800-19100800	Weak transcription	Small Intestine	intestine
7	chr9:19071200-19101200	Weak transcription	Psoas Muscle	Psoas
8	chr9:19077400-19102200	Weak transcription	Gastric	stomach
9	chr9:19079200-19099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:19079600-19101200	Weak transcription	Ovary	ovary
11	chr9:19085400-19101200	Weak transcription	Colonic Mucosa	Colon
12	chr9:19086600-19102200	Weak transcription	Aorta	Aorta
13	chr9:19089600-19102000	Weak transcription	HSMMtube	muscle
14	chr9:19089800-19101800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:19090000-19101200	Weak transcription	Right Atrium	heart
16	chr9:19090200-19101200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:19091200-19101200	Weak transcription	Esophagus	oesophagus
18	chr9:19091600-19099600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:19091600-19102000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:19091800-19100800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:19091800-19102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:19092400-19100200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:19092400-19100800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:19092400-19101200	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:19092400-19101200	Weak transcription	Fetal Brain Female	brain
26	chr9:19092600-19100800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:19093400-19100800	Weak transcription	Fetal Brain Male	brain
28	chr9:19093600-19100200	Weak transcription	K562	blood
29	chr9:19093600-19100400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:19093600-19100400	Weak transcription	NHEK	skin
31	chr9:19093800-19100600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:19093800-19101200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:19093800-19101200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:19093800-19101200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:19093800-19101200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:19093800-19101200	Weak transcription	Left Ventricle	heart
37	chr9:19093800-19101200	Weak transcription	Lung	lung
38	chr9:19093800-19101200	Weak transcription	Pancreas	Pancrea
39	chr9:19093800-19101200	Weak transcription	Right Ventricle	heart
40	chr9:19093800-19101200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr9:19093800-19101200	Weak transcription	Spleen	Spleen
42	chr9:19093800-19101200	Weak transcription	NHLF	lung
43	chr9:19093800-19101400	Weak transcription	Brain Angular Gyrus	brain
44	chr9:19093800-19101800	Weak transcription	Fetal Kidney	kidney
45	chr9:19093800-19102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr9:19093800-19102200	Weak transcription	Brain Substantia Nigra	brain
47	chr9:19094200-19099200	Weak transcription	Fetal Muscle Leg	muscle
48	chr9:19094200-19099400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:19094200-19099400	Weak transcription	Fetal Stomach	stomach
50	chr9:19094200-19100600	Weak transcription	Brain Hippocampus Middle	brain

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