Variant report

Variant	esv3388434
Chromosome Location	chr9:96057581-96060479
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96049367..96052330-chr9:96060124..96062687,2	K562	blood:
2	chr9:96057178..96058712-chr9:96213600..96215375,2	MCF-7	breast:
3	chr9:95988443..95991270-chr9:96059116..96061610,2	MCF-7	breast:
4	chr9:96050206..96051928-chr9:96059478..96062127,2	MCF-7	breast:
5	chr9:96060041..96062788-chr9:96072993..96075131,2	MCF-7	breast:
6	chr9:96050846..96054086-chr9:96058108..96060886,4	MCF-7	breast:
7	chr9:95962461..95964580-chr9:96059375..96061154,2	MCF-7	breast:
8	chr9:96051018..96055450-chr9:96055680..96058903,4	K562	blood:
9	chr9:95983716..95985400-chr9:96057478..96060069,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188938	chromatin interactions
ENSG00000165238	chromatin interactions
ENSG00000048828	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543402887	chr9:96057586-96057587	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs182068781	chr9:96057677-96057678	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs553403151	chr9:96057684-96057685	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs576510048	chr9:96057731-96057732	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs576963984	chr9:96057795-96057796	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs541124318	chr9:96057870-96057871	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs186546985	chr9:96057901-96057902	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs190153119	chr9:96057907-96057908	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs55643343	chr9:96057911-96057912	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114423251	chr9:96057990-96057991	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs531340764	chr9:96058005-96058006	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs549471624	chr9:96058007-96058008	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs199874648	chr9:96058018-96058019	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs571256174	chr9:96058019-96058020	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs13289160	chr9:96058022-96058023	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148175908	chr9:96058052-96058053	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs144140697	chr9:96058109-96058110	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs566313571	chr9:96058149-96058150	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs536415826	chr9:96058223-96058224	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs555244572	chr9:96058298-96058299	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs564324474	chr9:96058415-96058416	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs181340400	chr9:96058441-96058442	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs576615573	chr9:96058494-96058495	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs116833172	chr9:96058575-96058576	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs139294805	chr9:96058695-96058696	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs151179209	chr9:96058696-96058697	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs118117512	chr9:96058711-96058712	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs576804064	chr9:96058718-96058719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143023334	chr9:96058731-96058732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558910168	chr9:96058756-96058757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146384418	chr9:96058783-96058784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566005738	chr9:96058860-96058861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372431953	chr9:96058930-96058931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559386456	chr9:96058932-96058933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572229257	chr9:96058972-96058973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114732553	chr9:96059001-96059002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558696827	chr9:96059031-96059032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146065954	chr9:96059059-96059060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116515559	chr9:96059094-96059095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
40	rs115517510	chr9:96059112-96059113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564905645	chr9:96059154-96059155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532130961	chr9:96059169-96059170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139998138	chr9:96059188-96059189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565731174	chr9:96059193-96059194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182143617	chr9:96059252-96059253	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114545259	chr9:96059253-96059254	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375953815	chr9:96059282-96059283	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570227862	chr9:96059292-96059293	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537372137	chr9:96059303-96059304	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558806799	chr9:96059315-96059316	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96027200-96061000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:96031400-96062800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:96033000-96067200	Weak transcription	Brain Angular Gyrus	brain
4	chr9:96033400-96062800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr9:96033400-96067000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:96033400-96077200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:96033600-96060200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:96033600-96061000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:96033600-96072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:96033800-96060400	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:96047200-96065000	Weak transcription	Fetal Brain Male	brain
12	chr9:96049200-96057600	Strong transcription	Fetal Brain Female	brain
13	chr9:96051400-96067800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:96052000-96060800	Weak transcription	Placenta	Placenta
15	chr9:96052200-96066600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:96054400-96058200	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:96055200-96060200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr9:96055600-96080200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:96056000-96060800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:96056400-96058200	Enhancers	Spleen	Spleen
21	chr9:96056400-96079800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:96056600-96057600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:96056600-96058000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:96056600-96058000	Enhancers	Fetal Thymus	thymus
25	chr9:96056600-96058000	Enhancers	Left Ventricle	heart
26	chr9:96056600-96058000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr9:96056800-96058000	Genic enhancers	Fetal Intestine Small	intestine
28	chr9:96056800-96058000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr9:96056800-96058000	Enhancers	HepG2	liver
30	chr9:96056800-96058200	Enhancers	Primary B cells from peripheral blood	blood
31	chr9:96056800-96059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:96056800-96067400	Weak transcription	Brain Anterior Caudate	brain
33	chr9:96057000-96057600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr9:96057000-96058000	Enhancers	Fetal Intestine Large	intestine
35	chr9:96057000-96058000	Enhancers	Right Ventricle	heart
36	chr9:96057000-96058200	Enhancers	Primary B cells from cord blood	blood
37	chr9:96057000-96058200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr9:96057000-96058200	Enhancers	Pancreas	Pancrea
39	chr9:96057000-96059800	Weak transcription	Brain Germinal Matrix	brain
40	chr9:96057200-96057600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:96057200-96057600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr9:96057200-96057600	Enhancers	Colonic Mucosa	Colon
43	chr9:96057200-96057600	Enhancers	Fetal Muscle Leg	muscle
44	chr9:96057200-96057600	Enhancers	Gastric	stomach
45	chr9:96057200-96058000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr9:96057200-96058000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr9:96057200-96058000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr9:96057200-96058000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr9:96057200-96058000	Bivalent Enhancer	Fetal Stomach	stomach
50	chr9:96057200-96058000	Enhancers	Right Atrium	heart

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