Variant report

Variant	nsv525532
Chromosome Location	chr9:71839039-71843023
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	chr9:71838226..71839166-chr9:72164211..72164843,2	MCF-7	breast:
2	chr9:71842807..71845756-chr9:71852828..71854737,2	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7863144	chr9:71839039-71839040	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190367734	chr9:71839107-71839108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565088447	chr9:71839131-71839132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147639585	chr9:71839150-71839151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75024916	chr9:71839179-71839180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547631835	chr9:71839180-71839181	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140515645	chr9:71839251-71839252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180830580	chr9:71839262-71839263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577050870	chr9:71839269-71839270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11297121	chr9:71839270-71839271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541122703	chr9:71839274-71839275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72709082	chr9:71839277-71839278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574337432	chr9:71839359-71839360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530086661	chr9:71839383-71839384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553731228	chr9:71839408-71839409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563571823	chr9:71839413-71839414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144362640	chr9:71839441-71839442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571751037	chr9:71839463-71839464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563930363	chr9:71839470-71839471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113683371	chr9:71839480-71839481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532516230	chr9:71839502-71839503	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547445782	chr9:71839514-71839515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565954595	chr9:71839515-71839516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530076131	chr9:71839516-71839517	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7866592	chr9:71839525-71839526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7869735	chr9:71839560-71839561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539125313	chr9:71839596-71839597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537729617	chr9:71839628-71839629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185474800	chr9:71839651-71839652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76912821	chr9:71839660-71839661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143281310	chr9:71839687-71839688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76684789	chr9:71839709-71839710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553000298	chr9:71839764-71839765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574373571	chr9:71839894-71839895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541839376	chr9:71839899-71839900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12341832	chr9:71839925-71839926	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs369067590	chr9:71839936-71839937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151255173	chr9:71839973-71839974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567513463	chr9:71839976-71839977	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563942699	chr9:71840027-71840028	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528235730	chr9:71840044-71840045	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75334488	chr9:71840045-71840046	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375972558	chr9:71840192-71840193	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376682070	chr9:71840193-71840194	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369781021	chr9:71840199-71840200	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559824029	chr9:71840232-71840233	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199857597	chr9:71840233-71840234	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372333417	chr9:71840239-71840240	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147139671	chr9:71840248-71840249	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140340673	chr9:71840252-71840253	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71807800-71842800	Weak transcription	Small Intestine	intestine
2	chr9:71819800-71842200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:71820200-71842200	Weak transcription	NH-A	brain
4	chr9:71820400-71840400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:71820400-71842200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:71820800-71840200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:71821400-71840200	Weak transcription	Brain Anterior Caudate	brain
8	chr9:71828000-71840400	Strong transcription	Fetal Intestine Small	intestine
9	chr9:71828000-71866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:71828400-71843000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:71828600-71856600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:71828600-71857600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:71828600-71865600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:71828800-71844200	Weak transcription	HSMMtube	muscle
15	chr9:71828800-71851000	Weak transcription	Fetal Muscle Leg	muscle
16	chr9:71828800-71874200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:71830200-71846600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:71830400-71842800	Weak transcription	Fetal Thymus	thymus
19	chr9:71830600-71846000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr9:71830800-71840800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr9:71831000-71840200	Weak transcription	Fetal Kidney	kidney
22	chr9:71831000-71846600	Weak transcription	Stomach Mucosa	stomach
23	chr9:71831200-71851200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:71831400-71840200	Weak transcription	Brain Substantia Nigra	brain
25	chr9:71831400-71842800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:71831400-71868000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:71831400-71872800	Strong transcription	Liver	Liver
28	chr9:71831600-71842000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr9:71831600-71842800	Weak transcription	Dnd41	blood
30	chr9:71831600-71863200	Weak transcription	Hela-S3	cervix
31	chr9:71831800-71841800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr9:71833000-71842400	Weak transcription	Right Atrium	heart
33	chr9:71833200-71842800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:71833200-71844000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr9:71833400-71842800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:71833600-71850600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr9:71833800-71840200	Weak transcription	HSMM	muscle
38	chr9:71834000-71839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:71834000-71839800	Weak transcription	Primary T cells from cord blood	blood
40	chr9:71834000-71840200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:71834400-71840200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:71834600-71840200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr9:71834600-71840600	Weak transcription	Osteobl	bone
44	chr9:71834600-71851000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr9:71834800-71856400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr9:71835800-71840200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr9:71836200-71840200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr9:71836200-71840600	Weak transcription	Colonic Mucosa	Colon
49	chr9:71836400-71840200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:71836400-71840200	Weak transcription	Brain Hippocampus Middle	brain

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