Variant report

Variant	nsv973474
Chromosome Location	chr9:101579594-101595565
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101583304..101585662-chr9:101606150..101607939,2	K562	blood:
2	chr9:101592539..101594393-chr9:101595267..101597924,2	K562	blood:
3	chr9:101594752..101596934-chr9:101836815..101838508,2	K562	blood:
4	chr9:101583330..101586949-chr9:101590792..101593415,3	MCF-7	breast:
5	chr9:101555276..101559481-chr9:101592543..101597638,8	K562	blood:
6	chr9:101589019..101591816-chr9:101593283..101595363,3	MCF-7	breast:
7	chr9:101587154..101589938-chr9:101591413..101595541,4	K562	blood:
8	chr9:101570706..101573424-chr9:101594873..101597153,4	K562	blood:
9	chr9:101569805..101572939-chr9:101577293..101579763,4	MCF-7	breast:
10	chr9:101569167..101574169-chr9:101584327..101589428,7	K562	blood:
11	chr9:101587154..101589938-chr9:101591413..101595541,4	K562	blood:
12	chr9:101552665..101555032-chr9:101579639..101581833,2	K562	blood:
13	chr9:101590538..101592139-chr9:101593190..101595343,2	K562	blood:
14	chr9:101567740..101569488-chr9:101580448..101582310,2	K562	blood:
15	chr9:101579352..101582875-chr9:101585039..101587415,4	K562	blood:
16	chr9:101569707..101574064-chr9:101576163..101580274,6	K562	blood:
17	chr9:101581569..101586454-chr9:101592165..101596926,7	K562	blood:
18	chr9:101589019..101591816-chr9:101593283..101595363,3	MCF-7	breast:
19	chr9:101587717..101590652-chr9:101598442..101600978,2	K562	blood:
20	chr9:101557527..101559121-chr9:101593365..101595947,2	MCF-7	breast:
21	chr9:101592539..101594393-chr9:101595267..101597924,2	K562	blood:
22	chr9:101573972..101577031-chr9:101580194..101584196,5	MCF-7	breast:
23	chr9:101587154..101591377-chr9:101593024..101595541,4	K562	blood:
24	chr9:101569598..101571406-chr9:101580891..101583323,2	MCF-7	breast:
25	chr9:101559911..101562273-chr9:101583988..101585996,2	K562	blood:
26	chr9:101569950..101572558-chr9:101589132..101591773,2	K562	blood:
27	chr9:101570303..101574512-chr9:101580563..101586059,9	K562	blood:
28	chr9:101573922..101578023-chr9:101591893..101597789,5	K562	blood:
29	chr9:101568220..101570784-chr9:101592023..101594699,3	K562	blood:
30	chr9:101593411..101597126-chr9:101612510..101614474,3	K562	blood:
31	chr9:101587154..101591377-chr9:101593024..101595541,4	K562	blood:
32	chr9:101570786..101573911-chr9:101592967..101596373,4	K562	blood:
33	chr9:101567189..101569993-chr9:101576279..101580091,3	K562	blood:
34	chr9:101579352..101582875-chr9:101585039..101587415,4	K562	blood:
35	chr9:101571350..101572921-chr9:101580926..101583475,2	K562	blood:
36	chr9:101569334..101572126-chr9:101582061..101584787,3	MCF-7	breast:
37	chr9:101590538..101592139-chr9:101593190..101595343,2	K562	blood:
38	chr9:101551244..101553592-chr9:101594494..101597222,2	K562	blood:
39	chr9:101568220..101570253-chr9:101593199..101595479,2	K562	blood:
40	chr9:101583330..101586949-chr9:101590792..101593415,3	MCF-7	breast:
41	chr9:101595508..101597827-chr9:101735693..101737299,2	K562	blood:
42	chr9:101574618..101578718-chr9:101578881..101584261,5	K562	blood:
43	chr9:101581569..101586454-chr9:101592165..101596926,7	K562	blood:
44	chr9:101594248..101597008-chr9:101735799..101737374,2	K562	blood:
45	chr9:101594868..101597972-chr9:101638974..101641912,3	K562	blood:
46	chr9:101594094..101597495-chr9:101837008..101839345,3	K562	blood:
47	chr9:101568720..101574310-chr9:101584029..101588574,5	MCF-7	breast:
48	chr9:101595306..101598484-chr9:101600696..101602900,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119514	chromatin interactions
ENSG00000165138	chromatin interactions

Extended variants
information (count: 640 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575835206	chr9:101579648-101579649	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113268833	chr9:101579680-101579681	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560360868	chr9:101579690-101579691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188685289	chr9:101579809-101579810	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540491535	chr9:101579838-101579839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs191507850	chr9:101579842-101579843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs199524114	chr9:101579870-101579871	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528055713	chr9:101579873-101579874	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548302588	chr9:101579935-101579936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs143304991	chr9:101579946-101579947	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs367609262	chr9:101579964-101579965	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550803037	chr9:101579991-101579992	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372391800	chr9:101579997-101579998	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs116171910	chr9:101580070-101580071	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs539764227	chr9:101580099-101580100	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs183658062	chr9:101580115-101580116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566892399	chr9:101580226-101580227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188704991	chr9:101580287-101580288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565219263	chr9:101580306-101580307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376694221	chr9:101580348-101580349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138858747	chr9:101580353-101580354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs60700233	chr9:101580419-101580420	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140553487	chr9:101580482-101580483	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537909594	chr9:101580512-101580513	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35229220	chr9:101580513-101580514	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11792605	chr9:101580527-101580528	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs117443330	chr9:101580535-101580536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536909032	chr9:101580597-101580598	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376972328	chr9:101580656-101580657	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113650220	chr9:101580665-101580666	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541460717	chr9:101580683-101580684	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561681640	chr9:101580688-101580689	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530504971	chr9:101580717-101580718	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567273145	chr9:101580726-101580727	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181079233	chr9:101580727-101580728	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552581110	chr9:101580748-101580749	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150353575	chr9:101580753-101580754	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373453999	chr9:101580758-101580759	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138018543	chr9:101580798-101580799	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535687654	chr9:101580839-101580840	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549200098	chr9:101580896-101580897	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373569389	chr9:101580919-101580920	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs149503737	chr9:101580920-101580921	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs537825893	chr9:101580939-101580940	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs557749484	chr9:101580942-101580943	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs528485891	chr9:101580957-101580958	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376638331	chr9:101580958-101580959	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs147174694	chr9:101580995-101580996	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs2093503	chr9:101581001-101581002	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs554292682	chr9:101581045-101581046	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101571000-101586600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:101572000-101580800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr9:101572400-101581200	Weak transcription	Colonic Mucosa	Colon
4	chr9:101572400-101581200	Weak transcription	Fetal Stomach	stomach
5	chr9:101572600-101585800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:101572600-101586600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:101572800-101580400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr9:101572800-101581200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:101572800-101589200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:101573000-101580800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:101573000-101580800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:101573000-101586600	Weak transcription	Esophagus	oesophagus
13	chr9:101573000-101612800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr9:101573600-101581200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:101573800-101586000	Weak transcription	Fetal Intestine Large	intestine
16	chr9:101574000-101580800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:101574000-101585800	Weak transcription	Primary T cells from cord blood	blood
18	chr9:101574400-101580600	Weak transcription	Fetal Intestine Small	intestine
19	chr9:101574400-101585200	Weak transcription	Stomach Mucosa	stomach
20	chr9:101575600-101581400	Weak transcription	K562	blood
21	chr9:101576000-101605000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr9:101577400-101585600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:101577800-101610600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr9:101578000-101596800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:101578200-101580800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:101579200-101610800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:101580400-101580800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:101580400-101581200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr9:101580600-101582000	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr9:101580800-101581000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr9:101580800-101581400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:101580800-101581600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:101580800-101581600	Genic enhancers	Rectal Mucosa Donor 31	rectum
34	chr9:101580800-101581800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:101580800-101581800	Strong transcription	Rectal Smooth Muscle	rectum
36	chr9:101581000-101581800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
37	chr9:101581200-101581400	ZNF genes & repeats	Colonic Mucosa	Colon
38	chr9:101581200-101581800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:101581200-101581800	ZNF genes & repeats	Fetal Stomach	stomach
40	chr9:101581200-101582000	ZNF genes & repeats	Aorta	Aorta
41	chr9:101581200-101582200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:101581200-101585400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr9:101581400-101582000	Enhancers	K562	blood
44	chr9:101581400-101586600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr9:101581400-101586600	Weak transcription	Colonic Mucosa	Colon
46	chr9:101581600-101586200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:101581600-101591000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr9:101581800-101584800	Weak transcription	Fetal Stomach	stomach
49	chr9:101581800-101585000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr9:101581800-101585600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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