Variant report

Variant	esv3341449
Chromosome Location	chr9:96421831-96426729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:19527393..19530181-chr9:96424975..96426814,2	MCF-7	breast:
2	chr9:96425679..96427989-chr9:96428974..96431016,3	K562	blood:
3	chr9:96329551..96331505-chr9:96420260..96423135,2	MCF-7	breast:
4	chr9:96415816..96418876-chr9:96421256..96423559,3	MCF-7	breast:
5	chr9:96421764..96424036-chr9:96427270..96429397,3	K562	blood:
6	chr9:96426069..96427804-chr9:96431386..96433017,2	K562	blood:
7	chr9:96212773..96214294-chr9:96426400..96428911,2	K562	blood:

Variant related genes	Relation type
ENSG00000048828	chromatin interactions
ENSG00000188938	chromatin interactions

Extended variants
information (count: 248 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78254907	chr9:96421831-96421832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566594128	chr9:96421833-96421834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576390467	chr9:96421890-96421891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368004083	chr9:96421987-96421988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10992835	chr9:96422028-96422029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371223458	chr9:96422029-96422030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75817819	chr9:96422042-96422043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75271573	chr9:96422050-96422051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3750357	chr9:96422119-96422120	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529370801	chr9:96422226-96422227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182976566	chr9:96422227-96422228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185835122	chr9:96422229-96422230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190144774	chr9:96422231-96422232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554341764	chr9:96422264-96422265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73523906	chr9:96422328-96422329	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370755590	chr9:96422349-96422350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542698602	chr9:96422361-96422362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74558925	chr9:96422372-96422373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575993797	chr9:96422384-96422385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187669843	chr9:96422385-96422386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562593664	chr9:96422406-96422407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533249893	chr9:96422410-96422411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545013535	chr9:96422416-96422417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559643391	chr9:96422417-96422418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10992836	chr9:96422420-96422421	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374487151	chr9:96422423-96422424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549072691	chr9:96422433-96422434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368287960	chr9:96422448-96422449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372249971	chr9:96422477-96422478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10992837	chr9:96422489-96422490	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141328143	chr9:96422496-96422497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377362620	chr9:96422497-96422498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531293957	chr9:96422512-96422513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147020467	chr9:96422528-96422529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192602558	chr9:96422534-96422535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147637007	chr9:96422536-96422537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148936210	chr9:96422543-96422544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376063250	chr9:96422544-96422545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370446190	chr9:96422560-96422561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539310458	chr9:96422563-96422564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146063352	chr9:96422583-96422584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538149634	chr9:96422590-96422591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148116185	chr9:96422596-96422597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76832193	chr9:96422612-96422613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79962091	chr9:96422622-96422623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140965931	chr9:96422641-96422642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373926607	chr9:96422703-96422704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200604672	chr9:96422704-96422705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536463019	chr9:96422730-96422731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369820631	chr9:96422747-96422748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96392200-96423600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr9:96399000-96423400	Strong transcription	Fetal Intestine Large	intestine
3	chr9:96399400-96423600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr9:96400400-96430600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr9:96401000-96430000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:96401000-96438600	Weak transcription	Psoas Muscle	Psoas
7	chr9:96401600-96423400	Strong transcription	Adipose Nuclei	Adipose
8	chr9:96401800-96423400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr9:96402600-96430200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:96402600-96433600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:96403200-96423000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:96403400-96430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:96403400-96430800	Strong transcription	Liver	Liver
14	chr9:96404200-96422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr9:96405000-96423400	Strong transcription	Fetal Thymus	thymus
16	chr9:96405000-96423800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:96405200-96423600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr9:96405200-96429200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr9:96405200-96431400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr9:96405400-96423000	Strong transcription	Fetal Stomach	stomach
21	chr9:96405400-96423200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:96405400-96423200	Strong transcription	Thymus	Thymus
23	chr9:96405400-96423400	Strong transcription	Brain Angular Gyrus	brain
24	chr9:96405400-96423400	Strong transcription	Dnd41	blood
25	chr9:96405400-96423600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr9:96405400-96423600	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr9:96405400-96430000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:96405400-96430600	Strong transcription	Primary T cells from cord blood	blood
29	chr9:96405400-96431400	Strong transcription	Fetal Brain Female	brain
30	chr9:96405400-96433200	Strong transcription	Fetal Intestine Small	intestine
31	chr9:96405600-96423200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:96405600-96423400	Strong transcription	Brain Cingulate Gyrus	brain
33	chr9:96405600-96423400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:96405600-96429800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr9:96405600-96430000	Strong transcription	Brain Germinal Matrix	brain
36	chr9:96405600-96430400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr9:96405800-96423200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:96405800-96423600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:96405800-96423800	Strong transcription	Ovary	ovary
40	chr9:96406000-96423200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:96406200-96438600	Weak transcription	Small Intestine	intestine
42	chr9:96406600-96423600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:96406800-96430600	Strong transcription	Brain Hippocampus Middle	brain
44	chr9:96407200-96423000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr9:96407200-96423400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:96407200-96423400	Strong transcription	Brain Substantia Nigra	brain
47	chr9:96407200-96423400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr9:96407200-96430400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr9:96407400-96423800	Strong transcription	Fetal Muscle Leg	muscle
50	chr9:96410000-96430200	Strong transcription	Fetal Muscle Trunk	muscle

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