Variant report

Variant	nsv6585
Chromosome Location	chr9:85566659-85611489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:85604957..85606765-chr9:85610230..85612292,2	MCF-7	breast:
2	chr9:85574172..85576527-chr9:85577634..85580160,2	MCF-7	breast:
3	chr9:85576889..85578996-chr9:85579961..85582135,2	MCF-7	breast:
4	chr9:85599966..85602793-chr9:85606688..85608759,2	MCF-7	breast:
5	chr9:84302872..84304980-chr9:85574723..85576676,2	MCF-7	breast:
6	chr9:85581930..85584900-chr9:85675416..85678378,2	MCF-7	breast:
7	chr9:85576162..85576940-chr9:85834338..85835195,3	MCF-7	breast:
8	chr9:85563140..85565431-chr9:85567706..85570492,2	K562	blood:
9	chr9:85574172..85576527-chr9:85577634..85580160,2	MCF-7	breast:
10	chr9:85599966..85602793-chr9:85606688..85608759,2	MCF-7	breast:
11	chr9:85576889..85578996-chr9:85579961..85582135,2	MCF-7	breast:
12	chr9:85599370..85601315-chr9:85604604..85608125,3	MCF-7	breast:
13	chr9:85594172..85597684-chr9:85598731..85602466,4	MCF-7	breast:
14	chr9:85568255..85570066-chr9:85581948..85584043,2	MCF-7	breast:
15	chr9:85420090..85420656-chr9:85576435..85577075,2	MCF-7	breast:
16	chr9:85604957..85606765-chr9:85610230..85612292,2	MCF-7	breast:
17	chr9:85594172..85597684-chr9:85598731..85602466,4	MCF-7	breast:
18	chr9:85568255..85570066-chr9:85581948..85584043,2	MCF-7	breast:
19	chr9:85567518..85569787-chr9:85676279..85677863,2	MCF-7	breast:
20	chr9:84137611..84138117-chr9:85576167..85576687,2	MCF-7	breast:
21	chr9:85599370..85601315-chr9:85604604..85608125,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FRMD3-5	chr9:85594505-85597351	NONHSAT132729

No data

Variant related genes	Relation type
ENSG00000196781	chromatin interactions
ENSG00000233926	chromatin interactions
ENSG00000165105	chromatin interactions

Extended variants
information (count: 1541 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1541 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17745511	chr9:85567469-85567470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183708648	chr9:85567472-85567473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560888158	chr9:85567489-85567490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369486529	chr9:85567521-85567522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547620485	chr9:85567560-85567561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546216558	chr9:85567566-85567567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115524670	chr9:85567577-85567578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17085898	chr9:85567639-85567640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567533047	chr9:85567658-85567659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17085904	chr9:85567668-85567669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570147662	chr9:85567687-85567688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537684167	chr9:85567716-85567717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556081844	chr9:85567921-85567922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567989787	chr9:85568043-85568044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577349698	chr9:85568094-85568095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146036468	chr9:85568101-85568102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578018388	chr9:85568103-85568104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545172062	chr9:85568126-85568127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557473100	chr9:85568249-85568250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139999798	chr9:85568261-85568262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75039811	chr9:85568309-85568310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188233886	chr9:85568318-85568319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528391696	chr9:85568402-85568403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192955009	chr9:85568420-85568421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564730416	chr9:85568427-85568428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145756700	chr9:85568436-85568437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148546325	chr9:85568543-85568544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56000328	chr9:85568544-85568545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551670083	chr9:85568623-85568624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531103584	chr9:85568656-85568657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549619074	chr9:85568665-85568666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374079469	chr9:85568705-85568706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369616069	chr9:85568742-85568743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183116997	chr9:85568783-85568784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115758870	chr9:85568880-85568881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377762776	chr9:85568915-85568916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557161551	chr9:85568925-85568926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60780723	chr9:85568929-85568930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575363787	chr9:85568973-85568974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200293360	chr9:85569037-85569038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114620470	chr9:85569060-85569061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73651016	chr9:85569087-85569088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186938550	chr9:85569184-85569185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151099365	chr9:85569185-85569186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561783417	chr9:85569204-85569205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7029912	chr9:85569206-85569207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191432058	chr9:85569220-85569221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544342599	chr9:85569258-85569259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544222020	chr9:85569270-85569271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28604993	chr9:85569281-85569282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD
XY gonadal dysgenesis	20685758	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85567400-85568000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:85568000-85572200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:85572200-85573400	Enhancers	Fetal Kidney	kidney
4	chr9:85572200-85573400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:85572400-85572800	Enhancers	Fetal Brain Female	brain
6	chr9:85572400-85573400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:85572600-85573000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:85572600-85573200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr9:85572800-85573600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:85573000-85573400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:85573000-85576200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:85573200-85573400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:85573200-85576600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr9:85573600-85575600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:85575400-85576800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:85575600-85576800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:85575600-85576800	Enhancers	Fetal Lung	lung
18	chr9:85576000-85576400	Enhancers	Brain Germinal Matrix	brain
19	chr9:85576200-85576600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:85576200-85576600	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:85576200-85576600	Enhancers	Fetal Kidney	kidney
22	chr9:85576200-85576600	Enhancers	A549	lung
23	chr9:85576200-85576800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:85576200-85577000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:85576200-85577000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:85576200-85577000	Enhancers	Colon Smooth Muscle	Colon
27	chr9:85576200-85577200	Enhancers	Brain Hippocampus Middle	brain
28	chr9:85576400-85576600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr9:85576400-85577200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:85576600-85576800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr9:85577800-85578200	Active TSS	Lung	lung
32	chr9:85578400-85578600	Enhancers	Gastric	stomach
33	chr9:85578600-85583000	Weak transcription	Gastric	stomach
34	chr9:85579200-85583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:85579400-85579800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:85579800-85596200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:85583400-85584600	Enhancers	Primary hematopoietic stem cells	blood
38	chr9:85583400-85584600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr9:85583400-85584600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:85584000-85584200	Enhancers	HUVEC	blood vessel
41	chr9:85588600-85589000	Weak transcription	Gastric	stomach
42	chr9:85589000-85589200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:85589400-85590400	Weak transcription	Gastric	stomach
44	chr9:85590200-85590400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:85590200-85590800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:85590400-85590600	Enhancers	Gastric	stomach
47	chr9:85590400-85591000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:85590600-85593800	Weak transcription	Gastric	stomach
49	chr9:85591000-85591200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr9:85591200-85602800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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