Variant report

Variant	esv3378173
Chromosome Location	chr9:97207052-97207396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97202408..97204318-chr9:97206434..97208098,2	K562	blood:
2	chr9:97206178..97208805-chr9:97213845..97216691,2	K562	blood:
3	chr9:97204620..97207468-chr9:97208573..97210873,2	K562	blood:
4	chr9:97136576..97138289-chr9:97205602..97208468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148110	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16909983	chr9:97207151-97207152	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200996397	chr9:97207204-97207205	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377075042	chr9:97207210-97207211	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200429902	chr9:97207212-97207213	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374308369	chr9:97207231-97207232	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528557493	chr9:97207243-97207244	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368213378	chr9:97207248-97207249	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549116847	chr9:97207257-97207258	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143966019	chr9:97207285-97207286	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146140126	chr9:97207290-97207291	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555908891	chr9:97207296-97207297	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201117678	chr9:97207300-97207301	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577545203	chr9:97207308-97207309	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201631916	chr9:97207322-97207323	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148633124	chr9:97207354-97207355	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554495719	chr9:97207367-97207368	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148054524	chr9:97207383-97207384	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97172000-97208400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:97176800-97218000	Weak transcription	Fetal Brain Female	brain
3	chr9:97177200-97209400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:97181000-97208400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr9:97181400-97215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:97183000-97212000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:97190400-97215800	Weak transcription	Ovary	ovary
8	chr9:97191600-97208200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:97192200-97210000	Weak transcription	NHDF-Ad	bronchial
10	chr9:97192200-97221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:97193000-97211600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr9:97193800-97216000	Weak transcription	Brain Substantia Nigra	brain
13	chr9:97194000-97216000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:97194200-97208200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:97194400-97211800	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:97195200-97211800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:97195200-97216000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:97195200-97216000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:97195600-97213000	Weak transcription	Fetal Intestine Small	intestine
20	chr9:97195600-97218000	Weak transcription	Pancreas	Pancrea
21	chr9:97199400-97221400	Weak transcription	Psoas Muscle	Psoas
22	chr9:97199600-97209800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:97199600-97211600	Weak transcription	Fetal Kidney	kidney
24	chr9:97200000-97211000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:97201000-97223400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:97201000-97224600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr9:97201000-97225000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr9:97201000-97225800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr9:97201400-97221400	Weak transcription	Stomach Mucosa	stomach
30	chr9:97201400-97225200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr9:97201600-97209000	Weak transcription	Fetal Lung	lung
32	chr9:97201600-97224800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:97202000-97211200	Weak transcription	NH-A	brain
34	chr9:97202000-97211800	Weak transcription	Brain Hippocampus Middle	brain
35	chr9:97202000-97224200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr9:97202200-97215800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:97202200-97216000	Weak transcription	Brain Angular Gyrus	brain
38	chr9:97202200-97225600	Strong transcription	Dnd41	blood
39	chr9:97202400-97222600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr9:97202800-97209800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr9:97202800-97211800	Weak transcription	Brain Germinal Matrix	brain
42	chr9:97203000-97215800	Weak transcription	Brain Anterior Caudate	brain
43	chr9:97203200-97207400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:97203200-97214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr9:97203200-97225000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:97203400-97207400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:97203400-97211800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:97203600-97207400	Strong transcription	Fetal Intestine Large	intestine
49	chr9:97203600-97212400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr9:97203600-97212400	Strong transcription	Primary T cells from cord blood	blood

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