Variant report

Variant	esv2764145
Chromosome Location	chr9:97495261-97505608
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97494353..97497226-chr9:97497507..97500698,3	K562	blood:
2	chr9:97494025..97495913-chr9:97503226..97505755,2	MCF-7	breast:
3	chr9:97501974..97503551-chr9:97768873..97771457,2	MCF-7	breast:
4	chr9:97494353..97497226-chr9:97497507..97500698,3	K562	blood:
5	chr9:97487875..97491312-chr9:97494821..97498928,5	MCF-7	breast:
6	chr9:97487662..97491833-chr9:97492544..97495519,5	K562	blood:
7	chr9:97502535..97503065-chr9:97545339..97545882,2	MCF-7	breast:
8	chr9:97494182..97496611-chr9:97502044..97503943,2	K562	blood:
9	chr9:97488282..97491974-chr9:97498704..97501209,3	MCF-7	breast:
10	chr9:97488878..97491636-chr9:97495830..97497347,2	MCF-7	breast:
11	chr9:97494182..97496611-chr9:97502044..97503943,2	K562	blood:
12	chr9:97494025..97495913-chr9:97503226..97505755,2	MCF-7	breast:
13	chr9:97495948..97498258-chr9:97507078..97508866,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000148120	chromatin interactions

Extended variants
information (count: 385 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16911661	chr9:97495261-97495262	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549912647	chr9:97495262-97495263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556156574	chr9:97495292-97495293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141632258	chr9:97495296-97495297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530401985	chr9:97495302-97495303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548864669	chr9:97495342-97495343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145836435	chr9:97495372-97495373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148142192	chr9:97495375-97495376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200657561	chr9:97495381-97495382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs66495734	chr9:97495385-97495386	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537104658	chr9:97495388-97495389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552157938	chr9:97495389-97495390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs60037111	chr9:97495406-97495407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570442802	chr9:97495421-97495422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7848139	chr9:97495467-97495468	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141918940	chr9:97495481-97495482	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572347430	chr9:97495492-97495493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186939846	chr9:97495503-97495504	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76814585	chr9:97495527-97495528	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576679688	chr9:97495549-97495550	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150697854	chr9:97495562-97495563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543403507	chr9:97495610-97495611	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544078533	chr9:97495672-97495673	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565327874	chr9:97495723-97495724	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139971883	chr9:97495770-97495771	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541547746	chr9:97495785-97495786	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375098579	chr9:97495864-97495865	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562494106	chr9:97495879-97495880	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191814655	chr9:97495885-97495886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148003053	chr9:97495974-97495975	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182622089	chr9:97495978-97495979	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574481044	chr9:97495990-97495991	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563929336	chr9:97495995-97495996	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531270251	chr9:97496063-97496064	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547651743	chr9:97496141-97496142	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112906819	chr9:97496145-97496146	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376515899	chr9:97496155-97496156	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78915232	chr9:97496213-97496214	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570464579	chr9:97496223-97496224	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116322987	chr9:97496229-97496230	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546649251	chr9:97496253-97496254	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs143032695	chr9:97496395-97496396	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370593426	chr9:97496408-97496409	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535233602	chr9:97496447-97496448	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186941416	chr9:97496457-97496458	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568808892	chr9:97496459-97496460	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115419430	chr9:97496491-97496492	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199569118	chr9:97496501-97496502	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191532841	chr9:97496502-97496503	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541087313	chr9:97496538-97496539	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97489600-97496400	Weak transcription	Left Ventricle	heart
2	chr9:97489600-97496400	Weak transcription	Pancreas	Pancrea
3	chr9:97489600-97503200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:97489600-97504000	Weak transcription	Ovary	ovary
5	chr9:97489600-97506000	Weak transcription	Lung	lung
6	chr9:97489600-97524800	Weak transcription	Esophagus	oesophagus
7	chr9:97489800-97495600	Weak transcription	Fetal Lung	lung
8	chr9:97489800-97496200	Weak transcription	HSMM	muscle
9	chr9:97489800-97496200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:97489800-97496400	Weak transcription	Psoas Muscle	Psoas
11	chr9:97489800-97496600	Weak transcription	Brain Substantia Nigra	brain
12	chr9:97489800-97502000	Weak transcription	Fetal Intestine Large	intestine
13	chr9:97489800-97502200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:97489800-97505200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr9:97489800-97505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:97489800-97505800	Weak transcription	Right Ventricle	heart
17	chr9:97489800-97508000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr9:97489800-97511000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr9:97489800-97511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:97489800-97511600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:97489800-97521600	Weak transcription	Fetal Thymus	thymus
22	chr9:97489800-97522000	Weak transcription	Thymus	Thymus
23	chr9:97489800-97522400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr9:97490000-97495600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:97490000-97495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:97490000-97496400	Weak transcription	Adipose Nuclei	Adipose
27	chr9:97490000-97496400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:97490000-97496400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr9:97490000-97496600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:97490000-97497000	Weak transcription	NH-A	brain
31	chr9:97490000-97498800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:97490000-97502200	Weak transcription	Brain Angular Gyrus	brain
33	chr9:97490000-97502400	Weak transcription	Fetal Kidney	kidney
34	chr9:97490000-97505400	Weak transcription	HMEC	breast
35	chr9:97490000-97505600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr9:97490000-97510600	Weak transcription	Primary T cells from cord blood	blood
37	chr9:97490000-97510800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:97490000-97510800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr9:97490000-97510800	Weak transcription	Fetal Brain Female	brain
40	chr9:97490000-97510800	Weak transcription	NHDF-Ad	bronchial
41	chr9:97490000-97511600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr9:97490000-97511600	Weak transcription	Osteobl	bone
43	chr9:97490000-97512200	Weak transcription	Colon Smooth Muscle	Colon
44	chr9:97490000-97519400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:97490000-97521600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:97490200-97495400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:97490200-97496000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:97490200-97496200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr9:97490200-97496400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:97490200-97496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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