Variant report

Variant	nsv466422
Chromosome Location	chr9:78775570-78796522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:78796199..78798174-chr9:78798235..78800357,2	MCF-7	breast:
2	chr9:78772507..78774901-chr9:78778089..78780004,2	K562	blood:
3	chr9:78795377..78797478-chr9:78802711..78805667,2	MCF-7	breast:
4	chr9:78796043..78797870-chr9:78799058..78801819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099139	chromatin interactions

Extended variants
information (count: 841 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1888705	chr9:78775570-78775571	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533141000	chr9:78775601-78775602	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539630133	chr9:78775614-78775615	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4745512	chr9:78775647-78775648	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs35714346	chr9:78775676-78775677	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs57054216	chr9:78775685-78775686	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397712555	chr9:78775697-78775698	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28536007	chr9:78775698-78775699	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28534749	chr9:78775699-78775700	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565883641	chr9:78775708-78775709	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534775780	chr9:78775723-78775724	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139987443	chr9:78775727-78775728	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371260693	chr9:78775731-78775732	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142852742	chr9:78775736-78775737	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535344890	chr9:78775758-78775759	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150989408	chr9:78775759-78775760	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139557727	chr9:78775790-78775791	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576383986	chr9:78775794-78775795	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545383540	chr9:78775836-78775837	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193144713	chr9:78775838-78775839	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565201147	chr9:78775839-78775840	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527892652	chr9:78775845-78775846	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28479288	chr9:78775846-78775847	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546611242	chr9:78775897-78775898	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548430398	chr9:78775982-78775983	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28584572	chr9:78775987-78775988	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182841939	chr9:78775996-78775997	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569597193	chr9:78776001-78776002	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532085234	chr9:78776011-78776012	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs28581509	chr9:78776043-78776044	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs10869713	chr9:78776057-78776058	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187441960	chr9:78776058-78776059	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534893984	chr9:78776117-78776118	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs554839715	chr9:78776128-78776129	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs375912417	chr9:78776137-78776138	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112960689	chr9:78776172-78776173	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536395479	chr9:78776224-78776225	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs191469465	chr9:78776226-78776227	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576370848	chr9:78776230-78776231	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545348929	chr9:78776232-78776233	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs565199946	chr9:78776262-78776263	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs146755577	chr9:78776333-78776334	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs140370307	chr9:78776339-78776340	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs71499133	chr9:78776361-78776362	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs59118601	chr9:78776373-78776374	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200982374	chr9:78776374-78776375	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184035503	chr9:78776471-78776472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs566581246	chr9:78776472-78776473	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561186081	chr9:78776475-78776476	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs575121858	chr9:78776477-78776478	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78757200-78776400	Weak transcription	Psoas Muscle	Psoas
2	chr9:78762800-78780200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr9:78763400-78776400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:78763800-78776200	Weak transcription	Right Atrium	heart
5	chr9:78765800-78776000	Weak transcription	Fetal Lung	lung
6	chr9:78766400-78776000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:78766400-78790000	Weak transcription	Spleen	Spleen
8	chr9:78766600-78785200	Weak transcription	Fetal Kidney	kidney
9	chr9:78767400-78776800	Weak transcription	Small Intestine	intestine
10	chr9:78769000-78777000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:78770400-78781600	Weak transcription	Brain Substantia Nigra	brain
12	chr9:78770600-78790000	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:78771000-78790000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr9:78771600-78790000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr9:78771800-78778000	Strong transcription	Primary T cells from cord blood	blood
16	chr9:78771800-78778400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:78771800-78779600	Strong transcription	Thymus	Thymus
18	chr9:78771800-78779800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr9:78772200-78776000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:78772200-78776000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr9:78772200-78780000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr9:78772200-78790000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:78772400-78777000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr9:78772600-78776000	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:78772600-78777200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:78772600-78778600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:78772600-78779400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:78772600-78790000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:78772800-78777000	Weak transcription	Stomach Mucosa	stomach
30	chr9:78773000-78790000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:78773000-78790000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr9:78773200-78775600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:78773200-78775600	Strong transcription	Fetal Stomach	stomach
34	chr9:78773200-78776000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:78773200-78776000	Weak transcription	Placenta	Placenta
36	chr9:78773200-78778400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr9:78773200-78778400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:78773400-78775600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr9:78773400-78775600	Strong transcription	Ovary	ovary
40	chr9:78773400-78776000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr9:78773400-78776000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:78773400-78776000	Strong transcription	Adipose Nuclei	Adipose
43	chr9:78773400-78777200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:78773400-78777600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr9:78773400-78778400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr9:78773400-78778400	Strong transcription	Dnd41	blood
47	chr9:78773400-78778800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr9:78773400-78779800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr9:78773800-78775600	Strong transcription	Colonic Mucosa	Colon
50	chr9:78774200-78775600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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