Variant report

Variant	nsv893585
Chromosome Location	chr9:96363859-96403367
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
2	chr9:96347655..96349520-chr9:96399670..96402056,2	K562	blood:
3	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
4	chr9:96391172..96393560-chr9:96396943..96399376,2	K562	blood:
5	chr9:96363030..96364591-chr9:96367019..96369226,2	MCF-7	breast:
6	chr9:96336833..96339118-chr9:96375167..96379434,3	MCF-7	breast:
7	chr9:96371713..96374026-chr9:96382749..96385685,2	K562	blood:
8	chr9:96363030..96364591-chr9:96367019..96369226,2	MCF-7	breast:
9	chr9:96338187..96341203-chr9:96391174..96393981,3	MCF-7	breast:
10	chr9:96353488..96355423-chr9:96374627..96377387,2	K562	blood:
11	chr9:96338137..96340211-chr9:96373633..96375791,2	K562	blood:
12	chr20:55837305..55839406-chr9:96402337..96403887,2	MCF-7	breast:
13	chr9:96328888..96330785-chr9:96400006..96401542,2	MCF-7	breast:
14	chr9:96394493..96396202-chr9:96397169..96399120,2	MCF-7	breast:
15	chr9:96397302..96399892-chr9:96415445..96418992,3	MCF-7	breast:
16	chr9:96391831..96394155-chr9:96413684..96415869,2	K562	blood:
17	chr9:96363027..96365894-chr9:96366005..96367741,2	K562	blood:
18	chr9:96338100..96342684-chr9:96381746..96385734,6	MCF-7	breast:
19	chr9:96371713..96374026-chr9:96382749..96385685,2	K562	blood:
20	chr9:96385198..96387004-chr9:96393310..96394874,2	MCF-7	breast:
21	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
22	chr9:96365988..96367962-chr9:96372230..96374229,2	MCF-7	breast:
23	chr9:96393648..96395801-chr9:96402500..96404793,2	MCF-7	breast:
24	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:
25	chr9:96338802..96340670-chr9:96371503..96373772,3	MCF-7	breast:
26	chr9:96353562..96356481-chr9:96362305..96366209,4	MCF-7	breast:
27	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
28	chr9:96389762..96391845-chr9:96392211..96394395,2	K562	blood:
29	chr9:96394612..96397512-chr9:96407900..96409512,2	MCF-7	breast:
30	chr9:96394493..96396202-chr9:96397169..96399120,2	MCF-7	breast:
31	chr9:96365988..96367962-chr9:96372230..96374229,2	MCF-7	breast:
32	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
33	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:
34	chr9:96346772..96349327-chr9:96380904..96383527,2	MCF-7	breast:
35	chr9:96393648..96395801-chr9:96402500..96404793,2	MCF-7	breast:
36	chr9:96385198..96387004-chr9:96393310..96394874,2	MCF-7	breast:
37	chr9:96340603..96342904-chr9:96370807..96373306,2	K562	blood:
38	chr9:96336608..96339307-chr9:96363926..96365665,2	K562	blood:
39	chr9:96382332..96382997-chr9:96442806..96443414,2	MCF-7	breast:
40	chr9:96389762..96391845-chr9:96392211..96394395,2	K562	blood:
41	chr9:96363027..96365894-chr9:96366005..96367741,2	K562	blood:
42	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
43	chr9:96337969..96340007-chr9:96379464..96381194,2	MCF-7	breast:
44	chr9:96391172..96393560-chr9:96396943..96399376,2	K562	blood:
45	chr9:96382620..96384260-chr9:96389901..96392114,2	MCF-7	breast:
46	chr9:96382620..96384260-chr9:96389901..96392114,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197724	chromatin interactions

Extended variants
information (count: 1748 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1748 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2254712	chr9:96363859-96363860	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550179596	chr9:96363868-96363869	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571806242	chr9:96363900-96363901	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10992799	chr9:96363918-96363919	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185984636	chr9:96363923-96363924	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566554222	chr9:96363927-96363928	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192115674	chr9:96363940-96363941	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540868304	chr9:96363974-96363975	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555390556	chr9:96363985-96363986	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376920099	chr9:96364064-96364065	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537477547	chr9:96364069-96364070	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12345357	chr9:96364118-96364119	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145448688	chr9:96364130-96364131	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370494529	chr9:96364196-96364197	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545045186	chr9:96364213-96364214	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116757664	chr9:96364260-96364261	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553409391	chr9:96364271-96364272	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572564716	chr9:96364335-96364336	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559643109	chr9:96364419-96364420	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140313373	chr9:96364447-96364448	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10821176	chr9:96364456-96364457	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2994366	chr9:96364462-96364463	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371179807	chr9:96364466-96364467	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184010633	chr9:96364485-96364486	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs58301035	chr9:96364486-96364487	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373862564	chr9:96364491-96364492	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139364683	chr9:96364530-96364531	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532502857	chr9:96364542-96364543	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76581097	chr9:96364550-96364551	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs67001312	chr9:96364552-96364553	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547921936	chr9:96364664-96364665	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370476147	chr9:96364670-96364671	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186776784	chr9:96364685-96364686	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7869286	chr9:96364734-96364735	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs549145472	chr9:96364735-96364736	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11791934	chr9:96364755-96364756	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs537744976	chr9:96364786-96364787	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567767808	chr9:96364805-96364806	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555991645	chr9:96364823-96364824	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200889072	chr9:96364867-96364868	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570918631	chr9:96364906-96364907	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549967071	chr9:96364909-96364910	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547185948	chr9:96364913-96364914	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142905726	chr9:96364942-96364943	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143404055	chr9:96364955-96364956	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572087572	chr9:96364983-96364984	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs118156092	chr9:96364987-96364988	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367986494	chr9:96364999-96365000	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555136292	chr9:96365005-96365006	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576712631	chr9:96365084-96365085	Weak transcription Enhancers Strong transcription	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1200 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96349000-96365800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:96352400-96366000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:96352400-96369200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:96352400-96384600	Weak transcription	NHLF	lung
5	chr9:96356400-96364000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr9:96356600-96365600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:96357000-96367000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:96357600-96364200	Enhancers	Pancreas	Pancrea
9	chr9:96357600-96364600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:96358400-96364000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr9:96358400-96365200	Enhancers	Primary B cells from peripheral blood	blood
12	chr9:96359200-96364000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr9:96359600-96364200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:96359600-96364200	Enhancers	Lung	lung
15	chr9:96359600-96364400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:96359600-96364400	Enhancers	Left Ventricle	heart
17	chr9:96360000-96364000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:96360000-96365000	Enhancers	Brain Germinal Matrix	brain
19	chr9:96360200-96364000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:96360400-96364200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr9:96360400-96364400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr9:96360800-96364400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr9:96361000-96364200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr9:96361000-96364400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:96361000-96369400	Weak transcription	Dnd41	blood
26	chr9:96361200-96364000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr9:96361200-96364000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr9:96361200-96364200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:96361400-96364000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr9:96361400-96372000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:96361400-96380400	Weak transcription	Fetal Brain Male	brain
32	chr9:96361600-96364200	Enhancers	Fetal Muscle Leg	muscle
33	chr9:96361600-96364800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:96361600-96365200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:96361600-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:96362000-96364200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr9:96362000-96364200	Enhancers	Fetal Muscle Trunk	muscle
38	chr9:96362200-96364000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:96362600-96364200	Enhancers	Right Ventricle	heart
40	chr9:96362800-96364200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr9:96363000-96365200	Weak transcription	Psoas Muscle	Psoas
42	chr9:96363000-96365600	Weak transcription	Right Atrium	heart
43	chr9:96363000-96366200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:96363000-96368600	Weak transcription	Fetal Lung	lung
45	chr9:96363200-96364200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr9:96363200-96364800	Weak transcription	Placenta	Placenta
47	chr9:96363200-96365000	Weak transcription	Esophagus	oesophagus
48	chr9:96363200-96365200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:96363200-96365600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:96363200-96366000	Weak transcription	Brain Hippocampus Middle	brain

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