Variant report

Variant	esv3330954
Chromosome Location	chr9:117848335-117848809
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	chr9:117841964..117843849-chr9:117846217..117848854,2	MCF-7	breast:
2	chr9:117843493..117846362-chr9:117847187..117851097,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61729478	chr9:117848368-117848369	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs149491853	chr9:117848369-117848370	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs143944074	chr9:117848375-117848376	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148675378	chr9:117848376-117848377	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144406273	chr9:117848392-117848393	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1757095	chr9:117848394-117848395	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs201758398	chr9:117848395-117848396	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372037200	chr9:117848440-117848441	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs534990610	chr9:117848450-117848451	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189249722	chr9:117848470-117848471	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112399292	chr9:117848471-117848472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144640673	chr9:117848474-117848475	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548807420	chr9:117848477-117848478	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs151255144	chr9:117848483-117848484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140437715	chr9:117848485-117848486	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114407480	chr9:117848502-117848503	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145244970	chr9:117848510-117848511	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141350318	chr9:117848520-117848521	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534887266	chr9:117848521-117848522	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs542499079	chr9:117848533-117848534	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs559495675	chr9:117848543-117848544	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs199537945	chr9:117848567-117848568	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149285218	chr9:117848578-117848579	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369636320	chr9:117848584-117848585	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200788998	chr9:117848603-117848604	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375330272	chr9:117848606-117848607	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369887990	chr9:117848659-117848660	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145086096	chr9:117848668-117848669	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199883345	chr9:117848670-117848671	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139025891	chr9:117848673-117848674	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201871237	chr9:117848680-117848681	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142220270	chr9:117848688-117848689	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144544701	chr9:117848708-117848709	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147990968	chr9:117848713-117848714	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549163419	chr9:117848749-117848750	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141624690	chr9:117848760-117848761	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150548325	chr9:117848761-117848762	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565942829	chr9:117848784-117848785	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189493565	chr9:117848785-117848786	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375133574	chr9:117848795-117848796	Weak transcription Strong transcription Enhancers Genic 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
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117815400-117859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:117817800-117850600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:117822400-117854400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:117826800-117849400	Strong transcription	Osteobl	bone
5	chr9:117827000-117848600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:117827000-117849200	Strong transcription	NHDF-Ad	bronchial
7	chr9:117827200-117855200	Strong transcription	NH-A	brain
8	chr9:117827400-117849200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:117834000-117849400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:117834000-117849800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:117834800-117848600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:117836000-117848600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:117837000-117849400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:117839000-117848800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:117839000-117849200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:117839600-117849200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:117840800-117848600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:117841200-117860600	Weak transcription	Fetal Kidney	kidney
19	chr9:117841400-117849200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:117842600-117850400	Weak transcription	Fetal Brain Female	brain
21	chr9:117842800-117849400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:117842800-117855200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:117843600-117849000	Strong transcription	Fetal Muscle Leg	muscle
24	chr9:117843600-117849400	Strong transcription	NHLF	lung
25	chr9:117845600-117848600	Weak transcription	Fetal Lung	lung
26	chr9:117845600-117849000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:117845600-117850000	Weak transcription	Gastric	stomach
28	chr9:117845800-117849600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:117845800-117850400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:117846200-117849600	Strong transcription	Fetal Stomach	stomach
31	chr9:117846200-117849800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:117846200-117849800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:117846400-117848800	Strong transcription	Aorta	Aorta
34	chr9:117846600-117849600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr9:117846600-117849600	Genic enhancers	NHEK	skin
36	chr9:117846600-117851000	Weak transcription	Right Atrium	heart
37	chr9:117846800-117848400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr9:117846800-117849600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:117847000-117848600	Genic enhancers	Colon Smooth Muscle	Colon
40	chr9:117847000-117849000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr9:117847200-117856000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:117847400-117849200	Weak transcription	HMEC	breast
43	chr9:117847800-117849600	Genic enhancers	Rectal Smooth Muscle	rectum
44	chr9:117848000-117848400	Enhancers	Brain Hippocampus Middle	brain
45	chr9:117848000-117848600	Genic enhancers	Stomach Smooth Muscle	stomach
46	chr9:117848000-117849200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:117848000-117849200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:117848000-117849400	Strong transcription	Fetal Intestine Large	intestine
49	chr9:117848000-117849600	Strong transcription	Fetal Intestine Small	intestine
50	chr9:117848200-117848400	Genic enhancers	Esophagus	oesophagus

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