Variant report

Variant	nsv893420
Chromosome Location	chr9:71626508-71630841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:71628340-71628490	GM12873	blood:	n/a	n/a
2	CTCF	chr9:71628173-71628180	GM13976	blood:	n/a	n/a
3	CTCF	chr9:71627900-71628050	GM12873	blood:	n/a	n/a
4	CTCF	chr9:71629142-71629173	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr9:71629112-71629136	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr9:71628120-71628170	GM13976	blood:	n/a	n/a
7	CTCF	chr9:71627840-71627990	GM12871	blood:	n/a	n/a
8	CTCF	chr9:71627821-71627937	GM19238	blood:	n/a	n/a
9	CTCF	chr9:71627799-71627948	GM12892	blood:	n/a	n/a
10	CTCF	chr9:71627804-71627970	GM19240	blood:	n/a	n/a
11	CTCF	chr9:71627811-71627880	GM19239	blood:	n/a	n/a
12	POLR2A	chr9:71630581-71630643	GM12878	blood:	n/a	n/a
13	POLR2A	chr9:71628595-71628611	Gliobla	brain:	n/a	n/a
14	POLR2A	chr9:71628632-71628766	MCF-7	breast:	n/a	n/a
15	POLR2A	chr9:71628579-71628772	MCF-7	breast:	n/a	n/a
16	POLR2A	chr9:71628412-71628574	Gliobla	brain:	n/a	n/a
17	POLR2A	chr9:71627887-71628340	HL-60	blood:	n/a	n/a
18	POLR2A	chr9:71628639-71628655	Gliobla	brain:	n/a	n/a
19	POLR2A	chr9:71630658-71630663	GM12878	blood:	n/a	n/a
20	POLR2A	chr9:71627881-71628420	HL-60	blood:	n/a	n/a
21	RAD21	chr9:71627971-71627979	H1-hESC	embryonic stem cell:	n/a	n/a
22	RUNX3	chr9:71627880-71628391	GM12878	blood:	n/a	n/a
23	RUNX3	chr9:71627790-71628347	GM12878	blood:	n/a	n/a
24	TCF12	chr9:71627998-71628304	GM12878	blood:	n/a	n/a
25	TCF12	chr9:71628022-71628278	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:71628906-71628956	GM12878	blood:	n/a
2	chr9:71628906-71628956	HAEpiC	amniotic membrane:	n/a
3	chr9:71629130-71629180	NB4	blood:	n/a
4	chr9:71629130-71629180	H1-hESC	embryonic stem cell:	embryo
5	chr9:71627524-71627574	Caco-2	colon:	n/a
6	chr9:71627667-71627717	PrEC	prostate:	n/a
7	chr9:71627667-71627717	GM12878	blood:	n/a
8	chr9:71627524-71627574	AG04450	lung:	fetal
9	chr9:71627524-71627574	K562	blood:	n/a
10	chr9:71628906-71628956	HRPEpiC	eye:	n/a
11	chr9:71629130-71629180	AG09309	skin:	n/a
12	chr9:71629130-71629180	GM19239	blood:	n/a
13	chr9:71628906-71628956	GM06990	blood:	n/a
14	chr9:71627524-71627574	HRPEpiC	eye:	n/a
15	chr9:71628906-71628956	HNPCEpiC	eye:	n/a
16	chr9:71627667-71627717	GM19239	blood:	n/a
17	chr9:71627667-71627717	MCF-7	breast:	n/a
18	chr9:71629130-71629180	A549	lung:	n/a
19	chr9:71627667-71627717	AG04449	skin:	fetal
20	chr9:71627667-71627717	PANC-1	pancreas:	n/a
21	chr9:71629130-71629180	HPAEpiC	pulmonary alveolar:	n/a
22	chr9:71627524-71627574	HRCEpiC	kidney:	n/a
23	chr9:71627667-71627717	IMR90	lung:	fetal
24	chr9:71627524-71627574	GM12892	blood:	n/a
25	chr9:71627524-71627574	HepG2	liver:	n/a
26	chr9:71628906-71628956	GM12892	blood:	n/a
27	chr9:71627524-71627574	HMEC	breast:	n/a
28	chr9:71628906-71628956	NHBE	bronchial:	n/a
29	chr9:71628906-71628956	IMR90	lung:	fetal
30	chr9:71629130-71629180	NT2-D1	testis:	n/a
31	chr9:71629130-71629180	GM12878	blood:	n/a
32	chr9:71627524-71627574	GM12891	blood:	n/a
33	chr9:71627667-71627717	SK-N-SH	brain:	n/a
34	chr9:71629130-71629180	NHBE	bronchial:	n/a
35	chr9:71629130-71629180	HRE	kidney:	n/a
36	chr9:71629130-71629180	PANC-1	pancreas:	n/a
37	chr9:71627524-71627574	AG09309	skin:	n/a
38	chr9:71627524-71627574	SK-N-SH	brain:	n/a
39	chr9:71627667-71627717	Jurkat	blood:	n/a
40	chr9:71627667-71627717	SK-N-SH_RA	brain:	n/a
41	chr9:71628906-71628956	HL-60	blood:	n/a
42	chr9:71629130-71629180	HCF	heart:	n/a
43	chr9:71628906-71628956	SK-N-SH_RA	brain:	n/a
44	chr9:71627524-71627574	NHDF-neo	bronchial:	n/a
45	chr9:71627524-71627574	AG04449	skin:	fetal
46	chr9:71629130-71629180	NH-A	brain:	n/a
47	chr9:71627667-71627717	HCF	heart:	n/a
48	chr9:71627667-71627717	GM12892	blood:	n/a
49	chr9:71627667-71627717	HMEC	breast:	n/a
50	chr9:71629130-71629180	AG04450	lung:	fetal

No data

Variant related genes	Relation type
PRKACG	TF binding region
PRKACG	CpG island

Extended variants
information (count: 193 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs28461568	chr9:71626508-71626509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558126957	chr9:71626519-71626520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28449368	chr9:71626543-71626544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs41296848	chr9:71626571-71626572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555608709	chr9:71626586-71626587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574018082	chr9:71626596-71626597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544379143	chr9:71626627-71626628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112298203	chr9:71626647-71626648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556375580	chr9:71626651-71626652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577658111	chr9:71626675-71626676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543090399	chr9:71626678-71626679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4278218	chr9:71626682-71626683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571440516	chr9:71626685-71626686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11144760	chr9:71626695-71626696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542665741	chr9:71626701-71626702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs41296846	chr9:71626719-71626720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561144208	chr9:71626722-71626723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531669417	chr9:71626725-71626726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112238603	chr9:71626755-71626756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564976584	chr9:71626764-71626765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5898056	chr9:71626770-71626771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370766834	chr9:71626798-71626799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545462872	chr9:71626801-71626802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376985200	chr9:71626814-71626815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190595345	chr9:71626825-71626826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373913351	chr9:71626862-71626863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371636397	chr9:71626908-71626909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560096401	chr9:71626942-71626943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113846382	chr9:71626948-71626949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559136145	chr9:71627000-71627001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111586998	chr9:71627108-71627109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185520581	chr9:71627137-71627138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs41296844	chr9:71627166-71627167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539236409	chr9:71627202-71627203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553557603	chr9:71627249-71627250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371480323	chr9:71627258-71627259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11144762	chr9:71627283-71627284	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547957560	chr9:71627326-71627327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542628681	chr9:71627361-71627362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs41296342	chr9:71627364-71627365	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530795593	chr9:71627380-71627381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576399288	chr9:71627425-71627426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191481969	chr9:71627459-71627460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183135919	chr9:71627484-71627485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187775825	chr9:71627494-71627495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547594519	chr9:71627515-71627516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12345886	chr9:71627525-71627526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190957908	chr9:71627557-71627558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548958362	chr9:71627620-71627621	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs183196643	chr9:71627635-71627636	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	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
Breast cancer	22522925	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71594800-71628400	Weak transcription	Spleen	Spleen
2	chr9:71595200-71628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:71595200-71631600	Weak transcription	Gastric	stomach
4	chr9:71598800-71644600	Weak transcription	Right Atrium	heart
5	chr9:71606800-71626800	Weak transcription	HepG2	liver
6	chr9:71607400-71630600	Weak transcription	Aorta	Aorta
7	chr9:71607600-71628000	Weak transcription	Lung	lung
8	chr9:71614600-71626800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:71614600-71626800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:71614600-71627400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr9:71614600-71630800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:71614800-71627400	Weak transcription	GM12878-XiMat	blood
13	chr9:71619000-71631200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:71619600-71627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:71619600-71631600	Weak transcription	Left Ventricle	heart
16	chr9:71622200-71634600	Weak transcription	Fetal Heart	heart
17	chr9:71623400-71631600	Weak transcription	Pancreas	Pancrea
18	chr9:71624000-71627000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr9:71624600-71628000	Weak transcription	Fetal Intestine Small	intestine
20	chr9:71624600-71630600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:71624800-71627000	Weak transcription	Primary B cells from cord blood	blood
22	chr9:71625000-71626800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:71625000-71628000	Weak transcription	Fetal Intestine Large	intestine
24	chr9:71625000-71628200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr9:71625000-71634600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:71625400-71628000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:71626800-71627000	Enhancers	HepG2	liver
28	chr9:71626800-71627400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:71626800-71627600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:71626800-71627600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:71626800-71628400	Enhancers	Primary hematopoietic stem cells	blood
32	chr9:71627000-71627800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr9:71627000-71627800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr9:71627000-71628000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr9:71627000-71628400	Enhancers	Primary B cells from cord blood	blood
36	chr9:71627000-71628400	Enhancers	Primary B cells from peripheral blood	blood
37	chr9:71627200-71627600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr9:71627400-71627800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:71627400-71627800	Enhancers	GM12878-XiMat	blood
40	chr9:71627400-71627800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr9:71627400-71628000	Enhancers	Dnd41	blood
42	chr9:71627600-71627800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:71627600-71628200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr9:71627600-71628200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:71627600-71628200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:71627600-71628400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr9:71627600-71628400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr9:71627600-71628400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr9:71627600-71628400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr9:71627600-71628400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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