Variant report

Variant	esv275313
Chromosome Location	chr9:71813571-71815153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:71815089-71815299	K562	blood:	n/a	n/a
2	CEBPB	chr9:71815046-71815401	IMR90	lung:	n/a	n/a
3	CEBPB	chr9:71815095-71815270	K562	blood:	n/a	n/a
4	CTCF	chr9:71815042-71815308	K562	blood:	n/a	n/a
5	CTCF	chr9:71815121-71815290	GM12878	blood:	n/a	n/a
6	CTCF	chr9:71815072-71815372	K562	blood:	n/a	n/a
7	CTCF	chr9:71815120-71815270	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr9:71815140-71815290	BJ	skin:	n/a	n/a
9	CTCF	chr9:71815120-71815270	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr9:71815120-71815270	HMEC	breast:	n/a	n/a
11	CTCF	chr9:71815040-71815190	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr9:71815140-71815290	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr9:71815147-71815280	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr9:71815100-71815250	HCM	heart:	n/a	n/a
15	CTCF	chr9:71815043-71815267	K562	blood:	n/a	n/a
16	CTCF	chr9:71815120-71815270	SAEC	small airway:	n/a	n/a
17	CTCF	chr9:71815078-71815374	NHEK	skin:	n/a	n/a
18	CTCF	chr9:71815120-71815270	HCFaa	heart:	n/a	n/a
19	CTCF	chr9:71815140-71815290	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr9:71815120-71815270	NHEK	skin:	n/a	n/a
21	CTCF	chr9:71815140-71815290	HMEC	breast:	n/a	n/a
22	CTCF	chr9:71815135-71815303	MCF-7	breast:	n/a	n/a
23	CTCF	chr9:71815100-71815250	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr9:71815140-71815290	SAEC	small airway:	n/a	n/a
25	CTCF	chr9:71815080-71815230	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr9:71815120-71815270	K562	blood:	n/a	n/a
27	CTCF	chr9:71815060-71815210	HAc	cerebellar:	n/a	n/a
28	CTCF	chr9:71815141-71815287	MCF-7	breast:	n/a	n/a
29	CTCF	chr9:71815122-71815304	Gliobla	brain:	n/a	n/a
30	CTCF	chr9:71815120-71815270	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr9:71815040-71815190	AG04450	lung:	n/a	n/a
32	CTCF	chr9:71815100-71815250	AG04449	skin:	n/a	n/a
33	CTCF	chr9:71815091-71815439	MCF-7	breast:	n/a	n/a
34	CTCF	chr9:71815100-71815250	HMF	breast:	n/a	n/a
35	CTCF	chr9:71815140-71815290	NHEK	skin:	n/a	n/a
36	CTCF	chr9:71815102-71815314	MCF-7	breast:	n/a	n/a
37	CTCF	chr9:71815112-71815309	K562	blood:	n/a	n/a
38	CTCF	chr9:71815080-71815230	RPTEC	kidney:	n/a	n/a
39	CTCF	chr9:71815020-71815310	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr9:71815080-71815230	HRE	kidney:	n/a	n/a
41	CTCF	chr9:71815138-71815283	MCF-7	breast:	n/a	n/a
42	CTCF	chr9:71815127-71815301	MCF-7	breast:	n/a	n/a
43	CTCF	chr9:71815140-71815290	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCFL	chr9:71815113-71815243	K562	blood:	n/a	n/a
45	E2F4	chr9:71814992-71815262	MCF10A-Er-Src	breast:	n/a	n/a
46	EGR1	chr9:71815028-71815242	K562	blood:	n/a	n/a
47	EGR1	chr9:71815011-71815258	K562	blood:	n/a	n/a
48	FOS	chr9:71814992-71815345	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr9:71815053-71815310	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr9:71815027-71815288	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71812890..71815440-chr9:71822433..71824150,2	MCF-7	breast:
2	chr9:71733939..71735989-chr9:71814942..71816605,2	MCF-7	breast:
3	chr9:71798131..71799806-chr9:71811511..71814165,2	MCF-7	breast:
4	chr9:71814337..71816203-chr9:71818025..71821433,3	MCF-7	breast:
5	chr9:71811478..71813581-chr9:72000578..72003034,2	MCF-7	breast:
6	chr9:71813787..71816021-chr9:71816458..71819040,2	K562	blood:
7	chr9:71735722..71737857-chr9:71810209..71813854,3	MCF-7	breast:

No data

Variant related genes	Relation type
TJP2	TF binding region
ENSG00000135063	chromatin interactions
ENSG00000119139	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7043149	chr9:71813571-71813572	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150974484	chr9:71813584-71813585	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201353690	chr9:71813594-71813595	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531619915	chr9:71813605-71813606	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139560020	chr9:71813607-71813608	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150016432	chr9:71813632-71813633	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145244673	chr9:71813633-71813634	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368744516	chr9:71813682-71813683	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528764628	chr9:71813701-71813702	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547669454	chr9:71813742-71813743	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11792709	chr9:71813756-71813757	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189311713	chr9:71813788-71813789	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540346742	chr9:71813794-71813795	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530313039	chr9:71813839-71813840	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141230416	chr9:71813902-71813903	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569692285	chr9:71813950-71813951	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180945635	chr9:71814008-71814009	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536662265	chr9:71814033-71814034	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558557679	chr9:71814037-71814038	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185174478	chr9:71814052-71814053	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386734774	chr9:71814068-71814069	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146487004	chr9:71814071-71814072	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372122542	chr9:71814127-71814128	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144941523	chr9:71814142-71814143	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562932048	chr9:71814149-71814150	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189299086	chr9:71814173-71814174	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554783261	chr9:71814177-71814178	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576456384	chr9:71814179-71814180	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552056493	chr9:71814266-71814267	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570471119	chr9:71814284-71814285	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543531342	chr9:71814289-71814290	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564973025	chr9:71814360-71814361	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182039283	chr9:71814362-71814363	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539405358	chr9:71814451-71814452	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369946817	chr9:71814452-71814453	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555009074	chr9:71814459-71814460	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146885637	chr9:71814465-71814466	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200816726	chr9:71814466-71814467	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546737962	chr9:71814473-71814474	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559572033	chr9:71814477-71814478	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73450840	chr9:71814478-71814479	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373899428	chr9:71814482-71814483	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191623608	chr9:71814484-71814485	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377407167	chr9:71814496-71814497	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140699826	chr9:71814512-71814513	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570499879	chr9:71814517-71814518	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143810575	chr9:71814528-71814529	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553316346	chr9:71814541-71814542	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148147808	chr9:71814581-71814582	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535314004	chr9:71814589-71814590	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71790400-71832200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:71790400-71835600	Weak transcription	Colonic Mucosa	Colon
3	chr9:71795600-71814400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:71797000-71814600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:71797200-71832000	Weak transcription	Esophagus	oesophagus
6	chr9:71804000-71831800	Weak transcription	Aorta	Aorta
7	chr9:71805000-71817000	Enhancers	Brain Substantia Nigra	brain
8	chr9:71805200-71815400	Enhancers	Fetal Heart	heart
9	chr9:71805400-71817000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr9:71806000-71814400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:71806000-71814600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:71806200-71814400	Weak transcription	NHEK	skin
13	chr9:71806200-71815000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:71806600-71816200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:71806600-71819000	Weak transcription	Fetal Kidney	kidney
16	chr9:71807200-71813600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr9:71807400-71832200	Weak transcription	Primary T cells from cord blood	blood
18	chr9:71807600-71814400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:71807800-71842800	Weak transcription	Small Intestine	intestine
20	chr9:71808000-71814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:71808000-71814400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:71808000-71814400	Weak transcription	Psoas Muscle	Psoas
23	chr9:71808000-71814600	Weak transcription	Fetal Intestine Large	intestine
24	chr9:71808000-71819200	Weak transcription	NHLF	lung
25	chr9:71808200-71816200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:71808200-71819000	Weak transcription	Fetal Stomach	stomach
27	chr9:71808200-71819200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:71809000-71816600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:71809400-71813600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:71809600-71813800	Enhancers	Brain Anterior Caudate	brain
31	chr9:71809800-71813600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:71810000-71813600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr9:71810000-71814400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:71810200-71813600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:71810200-71815000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:71810400-71832400	Weak transcription	GM12878-XiMat	blood
37	chr9:71810600-71818800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:71811000-71817200	Enhancers	Brain Hippocampus Middle	brain
39	chr9:71811000-71819000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:71811200-71814400	Weak transcription	Adipose Nuclei	Adipose
41	chr9:71811200-71822400	Weak transcription	Pancreas	Pancrea
42	chr9:71811400-71814200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:71811600-71815800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:71811600-71819400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:71812200-71815400	Enhancers	K562	blood
46	chr9:71812400-71813600	Enhancers	Brain Angular Gyrus	brain
47	chr9:71812400-71813600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr9:71812400-71814000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr9:71812400-71817000	Genic enhancers	HepG2	liver
50	chr9:71812600-71813600	Enhancers	HUES6 Cell Line	embryonic stem cell

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