Variant report

Variant	nsv415866
Chromosome Location	chr9:97212790-97215430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97206178..97208805-chr9:97213845..97216691,2	K562	blood:
2	chr9:97214734..97217712-chr9:97223589..97225379,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539243106	chr9:97212820-97212821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7040577	chr9:97212822-97212823	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs369786245	chr9:97212920-97212921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7040710	chr9:97212933-97212934	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs36047200	chr9:97212946-97212947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535749288	chr9:97212962-97212963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555098717	chr9:97212969-97212970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7023915	chr9:97212970-97212971	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs575465812	chr9:97212993-97212994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376106624	chr9:97212998-97212999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556893724	chr9:97213018-97213019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578238235	chr9:97213026-97213027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370995218	chr9:97213097-97213098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565421721	chr9:97213106-97213107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545627995	chr9:97213144-97213145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146575522	chr9:97213145-97213146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55783437	chr9:97213158-97213159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572469037	chr9:97213172-97213173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115542279	chr9:97213199-97213200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561159288	chr9:97213228-97213229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531722807	chr9:97213238-97213239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114582766	chr9:97213251-97213252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113933283	chr9:97213268-97213269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140355245	chr9:97213276-97213277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546195108	chr9:97213412-97213413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375828963	chr9:97213437-97213438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77924247	chr9:97213444-97213445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs111958798	chr9:97213483-97213484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573192783	chr9:97213497-97213498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527430864	chr9:97213505-97213506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549055727	chr9:97213508-97213509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567199396	chr9:97213547-97213548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150345276	chr9:97213559-97213560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80353472	chr9:97213560-97213561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs571986014	chr9:97213584-97213585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558487158	chr9:97213659-97213660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539312811	chr9:97213684-97213685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138014703	chr9:97213687-97213688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200870358	chr9:97213719-97213720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377712215	chr9:97213756-97213757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149113492	chr9:97213778-97213779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200191484	chr9:97213780-97213781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555043585	chr9:97213794-97213795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143164639	chr9:97213828-97213829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4744347	chr9:97213843-97213844	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs182724149	chr9:97213851-97213852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187002115	chr9:97213917-97213918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544889751	chr9:97213934-97213935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560132885	chr9:97213971-97213972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58683607	chr9:97214010-97214011	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	22522925	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97176800-97218000	Weak transcription	Fetal Brain Female	brain
2	chr9:97181400-97215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:97190400-97215800	Weak transcription	Ovary	ovary
4	chr9:97192200-97221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:97193800-97216000	Weak transcription	Brain Substantia Nigra	brain
6	chr9:97194000-97216000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:97195200-97216000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:97195200-97216000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:97195600-97213000	Weak transcription	Fetal Intestine Small	intestine
10	chr9:97195600-97218000	Weak transcription	Pancreas	Pancrea
11	chr9:97199400-97221400	Weak transcription	Psoas Muscle	Psoas
12	chr9:97201000-97223400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:97201000-97224600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr9:97201000-97225000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr9:97201000-97225800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr9:97201400-97221400	Weak transcription	Stomach Mucosa	stomach
17	chr9:97201400-97225200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr9:97201600-97224800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:97202000-97224200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr9:97202200-97215800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:97202200-97216000	Weak transcription	Brain Angular Gyrus	brain
22	chr9:97202200-97225600	Strong transcription	Dnd41	blood
23	chr9:97202400-97222600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:97203000-97215800	Weak transcription	Brain Anterior Caudate	brain
25	chr9:97203200-97214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:97203200-97225000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:97203600-97214000	Strong transcription	Primary B cells from cord blood	blood
28	chr9:97203800-97217000	Weak transcription	HepG2	liver
29	chr9:97204000-97215800	Weak transcription	Small Intestine	intestine
30	chr9:97204000-97215800	Weak transcription	NHLF	lung
31	chr9:97204200-97222800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:97204400-97227000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:97204600-97216200	Weak transcription	Fetal Brain Male	brain
34	chr9:97204800-97216000	Weak transcription	Spleen	Spleen
35	chr9:97205600-97215600	Weak transcription	Aorta	Aorta
36	chr9:97206200-97225800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:97206600-97224400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr9:97206800-97225200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr9:97206800-97225600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:97207000-97225800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr9:97207200-97216000	Weak transcription	Gastric	stomach
42	chr9:97207200-97218000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:97207200-97224800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:97207400-97215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:97207400-97215800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:97207400-97216000	Weak transcription	Left Ventricle	heart
47	chr9:97207400-97218000	Weak transcription	Esophagus	oesophagus
48	chr9:97208000-97215800	Weak transcription	Right Ventricle	heart
49	chr9:97208200-97214000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr9:97208200-97215000	Strong transcription	Duodenum Mucosa	Duodenum

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