Variant report

Variant	esv33626
Chromosome Location	chr9:21827421-21828357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:21827202..21829745-chr9:22105278..22107397,2	MCF-7	breast:
2	chr9:21825303..21827537-chr9:22080207..22082765,2	MCF-7	breast:
3	chr9:21827757..21830493-chr9:21833555..21836512,2	MCF-7	breast:
4	chr9:21827752..21829357-chr9:22103639..22105234,2	MCF-7	breast:
5	chr9:21803276..21805320-chr9:21825031..21828014,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099810	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 164 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144571213	chr9:21827484-21827485	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148060077	chr9:21827524-21827525	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76534342	chr9:21827526-21827527	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538804437	chr9:21827556-21827557	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551922224	chr9:21827673-21827674	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558625638	chr9:21827683-21827684	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185688774	chr9:21827701-21827702	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540677273	chr9:21827835-21827836	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534697640	chr9:21827837-21827838	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554555285	chr9:21827846-21827847	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574605420	chr9:21827903-21827904	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115536984	chr9:21827912-21827913	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76488291	chr9:21827916-21827917	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141803940	chr9:21827930-21827931	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190203823	chr9:21827937-21827938	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556409346	chr9:21827969-21827970	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs3927737	chr9:21827992-21827993	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528742578	chr9:21828007-21828008	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373367691	chr9:21828021-21828022	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181746494	chr9:21828048-21828049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10116942	chr9:21828086-21828087	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3900787	chr9:21828110-21828111	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs147241617	chr9:21828115-21828116	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115465688	chr9:21828118-21828119	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370158278	chr9:21828130-21828131	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140679158	chr9:21828148-21828149	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185516441	chr9:21828172-21828173	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535401408	chr9:21828177-21828178	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538494835	chr9:21828218-21828219	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558678256	chr9:21828240-21828241	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3927738	chr9:21828242-21828243	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7021653	chr9:21828247-21828248	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554618637	chr9:21828254-21828255	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370966167	chr9:21828257-21828258	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574521656	chr9:21828258-21828259	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7021477	chr9:21828279-21828280	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543422227	chr9:21828337-21828338	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202078058	chr9:21828339-21828340	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556826828	chr9:21828342-21828343	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:164)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
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
Chronic myeloid leukemia	21384125	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	21525872	CNVD
Multiple myeloma	17550852	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung adenocarcinoma	17982442	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21804000-21838200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:21806600-21841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:21809200-21836800	Weak transcription	Small Intestine	intestine
4	chr9:21814000-21831800	Weak transcription	Fetal Heart	heart
5	chr9:21814400-21831800	Weak transcription	Stomach Mucosa	stomach
6	chr9:21814400-21837400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr9:21814400-21845200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:21816400-21836600	Weak transcription	Psoas Muscle	Psoas
9	chr9:21816600-21833800	Weak transcription	Fetal Brain Male	brain
10	chr9:21816800-21833200	Weak transcription	Brain Angular Gyrus	brain
11	chr9:21817400-21829000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:21817400-21830200	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:21817400-21837800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:21817800-21840600	Weak transcription	Colonic Mucosa	Colon
15	chr9:21818600-21840800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:21818800-21840400	Weak transcription	Right Ventricle	heart
17	chr9:21819000-21828800	Weak transcription	HSMMtube	muscle
18	chr9:21819000-21831400	Weak transcription	NHLF	lung
19	chr9:21819200-21828800	Weak transcription	Osteobl	bone
20	chr9:21819400-21827600	Weak transcription	NH-A	brain
21	chr9:21819400-21829000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr9:21819400-21829200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:21819400-21830800	Weak transcription	HUVEC	blood vessel
24	chr9:21819400-21831400	Weak transcription	Placenta	Placenta
25	chr9:21819400-21831800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr9:21819400-21833800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:21819400-21840400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr9:21819400-21841600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:21819600-21830600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:21819800-21832400	Weak transcription	Brain Anterior Caudate	brain
31	chr9:21823000-21830600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:21823800-21840400	Strong transcription	Fetal Muscle Leg	muscle
33	chr9:21824000-21830000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:21824000-21830800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:21824000-21831200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:21824200-21840400	Strong transcription	Fetal Lung	lung
37	chr9:21824400-21827800	Strong transcription	Esophagus	oesophagus
38	chr9:21824400-21828400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:21824400-21828800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:21824400-21830200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:21824400-21831000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr9:21824400-21831000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr9:21824400-21831200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:21824400-21831400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr9:21824600-21829200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr9:21824600-21829600	Strong transcription	Liver	Liver
47	chr9:21824600-21831200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:21824600-21831200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr9:21824800-21828400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:21824800-21829400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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