Variant report

Variant	nsv1036586
Chromosome Location	chr9:116118902-116136993
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:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:116071329..116074445-chr9:116134233..116136581,3	MCF-7	breast:
2	chr9:116103291..116106183-chr9:116133139..116134993,2	K562	blood:
3	chr9:116122073..116125346-chr9:116133766..116136866,3	MCF-7	breast:
4	chr9:116133150..116137640-chr9:116162561..116165581,6	MCF-7	breast:
5	chr9:116119995..116122506-chr9:116129873..116132566,2	MCF-7	breast:
6	chr9:116122597..116124839-chr9:116128759..116130936,3	MCF-7	breast:
7	chr9:116125080..116127101-chr9:116139095..116140609,2	K562	blood:
8	chr9:116119997..116122234-chr9:116127833..116130251,2	MCF-7	breast:
9	chr9:116101733..116104316-chr9:116133698..116137362,3	K562	blood:
10	chr9:116122073..116125346-chr9:116133766..116136866,3	MCF-7	breast:
11	chr9:116132959..116135893-chr9:116149192..116150775,2	MCF-7	breast:
12	chr9:116101615..116103451-chr9:116120888..116122446,2	MCF-7	breast:
13	chr9:116124595..116126724-chr9:116133634..116135834,3	K562	blood:
14	chr9:116111775..116114155-chr9:116135135..116137123,3	MCF-7	breast:
15	chr9:116122597..116124839-chr9:116128759..116130936,3	MCF-7	breast:
16	chr9:116068239..116070626-chr9:116128043..116129865,2	MCF-7	breast:
17	chr9:116133477..116135690-chr9:116141217..116143043,2	K562	blood:
18	chr9:115196115..115198576-chr9:116119511..116121526,2	K562	blood:
19	chr9:116116941..116119780-chr9:116168101..116172088,3	MCF-7	breast:
20	chr9:116129674..116142040-chr9:116159218..116175468,34	MCF-7	breast:
21	chr9:116133352..116136068-chr9:116190444..116192114,2	K562	blood:
22	chr9:116116765..116119707-chr9:116134717..116136429,2	K562	blood:
23	chr9:116070123..116071918-chr9:116134499..116138293,3	MCF-7	breast:
24	chr9:116135295..116143276-chr9:116169551..116176415,12	MCF-7	breast:
25	chr9:116118659..116121326-chr9:116124549..116126674,2	MCF-7	breast:
26	chr9:116127286..116129224-chr9:116135348..116138252,2	K562	blood:
27	chr9:116129961..116132443-chr9:116136297..116137868,2	K562	blood:
28	chr9:116110132..116116489-chr9:116119507..116125005,8	MCF-7	breast:
29	chr9:116127846..116129499-chr9:116156115..116158388,2	K562	blood:
30	chr9:116125138..116127996-chr9:116129478..116132469,3	K562	blood:
31	chr9:116129961..116132443-chr9:116136297..116137868,2	K562	blood:
32	chr9:116129625..116132113-chr9:116158128..116160524,2	MCF-7	breast:
33	chr9:116131952..116133539-chr9:116342073..116343791,2	MCF-7	breast:
34	chr9:116110267..116113559-chr9:116127795..116130030,3	MCF-7	breast:
35	chr9:116117613..116119725-chr9:116129685..116131579,2	MCF-7	breast:
36	chr9:116101188..116103344-chr9:116123740..116126307,2	MCF-7	breast:
37	chr9:116065546..116067131-chr9:116136857..116139618,2	MCF-7	breast:
38	chr9:116037356..116039731-chr9:116125140..116127156,2	MCF-7	breast:
39	chr9:116129698..116134206-chr9:116137986..116141026,4	K562	blood:
40	chr9:116129075..116133029-chr9:116162215..116166672,4	K562	blood:
41	chr9:116061990..116065430-chr9:116133757..116136498,3	MCF-7	breast:
42	chr9:116127286..116129224-chr9:116135348..116138252,2	K562	blood:
43	chr9:116116765..116119707-chr9:116134717..116136429,2	K562	blood:
44	chr9:116116084..116117603-chr9:116121725..116123605,2	MCF-7	breast:
45	chr9:116135343..116137901-chr9:116159656..116162633,2	K562	blood:
46	chr9:116116293..116119291-chr9:116122385..116124255,2	K562	blood:
47	chr9:116125138..116127996-chr9:116129478..116132469,3	K562	blood:
48	chr9:116119997..116122234-chr9:116127833..116130251,2	MCF-7	breast:
49	chr9:116124595..116126724-chr9:116133634..116135834,3	K562	blood:
50	chr9:116124299..116128919-chr9:116129296..116133206,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138835	chromatin interactions
ENSG00000148218	chromatin interactions
ENSG00000136875	chromatin interactions
ENSG00000119431	chromatin interactions
ENSG00000157653	chromatin interactions
ENSG00000119411	chromatin interactions
ENSG00000148229	chromatin interactions
ENSG00000165188	chromatin interactions
ENSG00000176386	chromatin interactions
ENSG00000148225	chromatin interactions

Extended variants
information (count: 787 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:787 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189899353	chr9:116118919-116118920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4979237	chr9:116118952-116118953	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs4979238	chr9:116119023-116119024	Bivalent Enhancer Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs7873616	chr9:116119039-116119040	Bivalent Enhancer Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs548919193	chr9:116119122-116119123	Bivalent Enhancer Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148998652	chr9:116119194-116119195	Bivalent Enhancer Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376993896	chr9:116119227-116119228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534240408	chr9:116119263-116119264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547474264	chr9:116119265-116119266	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570954725	chr9:116119266-116119267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7859965	chr9:116119299-116119300	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs367738512	chr9:116119307-116119308	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35852964	chr9:116119329-116119330	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575118917	chr9:116119346-116119347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537604411	chr9:116119358-116119359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554857044	chr9:116119391-116119392	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182119363	chr9:116119449-116119450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78202209	chr9:116119450-116119451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559871105	chr9:116119485-116119486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577044620	chr9:116119523-116119524	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143811413	chr9:116119589-116119590	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562539064	chr9:116119639-116119640	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs186312299	chr9:116119654-116119655	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs151044267	chr9:116119665-116119666	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190287745	chr9:116119689-116119690	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527960009	chr9:116119747-116119748	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537322278	chr9:116119783-116119784	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547807748	chr9:116119790-116119791	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142341304	chr9:116119835-116119836	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544109860	chr9:116119844-116119845	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549867939	chr9:116119892-116119893	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374140591	chr9:116119911-116119912	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377680750	chr9:116119920-116119921	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537689029	chr9:116119926-116119927	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554463737	chr9:116119940-116119941	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76507437	chr9:116119984-116119985	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533826562	chr9:116120015-116120016	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554761981	chr9:116120017-116120018	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573187653	chr9:116120069-116120070	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540505152	chr9:116120140-116120141	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs72760058	chr9:116120147-116120148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371820399	chr9:116120167-116120168	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4978538	chr9:116120184-116120185	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7848365	chr9:116120186-116120187	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376472852	chr9:116120188-116120189	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369447826	chr9:116120204-116120205	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200805888	chr9:116120206-116120207	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs71367720	chr9:116120220-116120221	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs80125411	chr9:116120224-116120225	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180684858	chr9:116120242-116120243	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116112800-116122800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:116113000-116135600	Weak transcription	Colonic Mucosa	Colon
3	chr9:116113000-116138000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:116113400-116135200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:116113800-116122200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:116113800-116137800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr9:116114000-116127400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:116114200-116136400	Weak transcription	Primary B cells from cord blood	blood
9	chr9:116115000-116121600	Weak transcription	Gastric	stomach
10	chr9:116115200-116119000	Weak transcription	HepG2	liver
11	chr9:116115200-116121000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:116115200-116121600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:116115400-116123400	Weak transcription	Stomach Mucosa	stomach
14	chr9:116115400-116135000	Weak transcription	Esophagus	oesophagus
15	chr9:116115600-116121600	Weak transcription	Pancreas	Pancrea
16	chr9:116115600-116132800	Weak transcription	Fetal Intestine Large	intestine
17	chr9:116115800-116125800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:116116200-116122600	Weak transcription	Brain Anterior Caudate	brain
19	chr9:116116400-116137000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:116116600-116126400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:116117800-116124000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr9:116118000-116122400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:116118200-116120200	Weak transcription	Fetal Intestine Small	intestine
24	chr9:116118800-116121800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr9:116119000-116119200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:116119000-116120000	Enhancers	HepG2	liver
27	chr9:116119600-116120400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr9:116120200-116126400	Strong transcription	Fetal Intestine Small	intestine
29	chr9:116120200-116131800	Weak transcription	Lung	lung
30	chr9:116120400-116120600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr9:116120400-116127200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:116121000-116124800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr9:116121600-116121800	Enhancers	Left Ventricle	heart
34	chr9:116121600-116121800	Genic enhancers	Pancreas	Pancrea
35	chr9:116121600-116122000	Enhancers	Liver	Liver
36	chr9:116121600-116122000	Enhancers	Gastric	stomach
37	chr9:116121600-116122000	Enhancers	Right Ventricle	heart
38	chr9:116121600-116126400	Strong transcription	Primary hematopoietic stem cells	blood
39	chr9:116121800-116122400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr9:116121800-116124400	Enhancers	Pancreas	Pancrea
41	chr9:116122000-116122800	Weak transcription	Gastric	stomach
42	chr9:116122200-116124000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:116122400-116123200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr9:116122400-116124000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr9:116122600-116124800	Enhancers	Brain Anterior Caudate	brain
46	chr9:116122800-116123000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:116122800-116123200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr9:116122800-116123200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:116122800-116123200	Genic enhancers	Gastric	stomach
50	chr9:116123000-116123200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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