Variant report

Variant	esv1810342
Chromosome Location	chr9:100995758-101006339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:333)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr9:101002674-101003103	K562	blood:	n/a	n/a
2	BHLHE40	chr9:101004178-101004509	K562	blood:	n/a	n/a
3	BHLHE40	chr9:101002653-101003113	K562	blood:	n/a	n/a
4	CBX3	chr9:100996590-100996916	K562	blood:	n/a	n/a
5	CCNT2	chr9:101002756-101003080	K562	blood:	n/a	n/a
6	CEBPB	chr9:100999228-100999787	K562	blood:	n/a	n/a
7	CEBPB	chr9:101002692-101003089	K562	blood:	n/a	n/a
8	CEBPB	chr9:100999526-100999735	HepG2	liver:	n/a	n/a
9	CEBPB	chr9:100999496-100999650	HepG2	liver:	n/a	n/a
10	CEBPB	chr9:100997483-100997537	K562	blood:	n/a	n/a
11	CEBPB	chr9:101002680-101003063	K562	blood:	n/a	n/a
12	CEBPB	chr9:100999388-100999740	K562	blood:	n/a	n/a
13	CEBPB	chr9:100999486-100999686	IMR90	lung:	n/a	n/a
14	CEBPB	chr9:100999454-100999775	MCF-7	breast:	n/a	n/a
15	CEBPB	chr9:100999446-100999651	K562	blood:	n/a	n/a
16	CEBPD	chr9:101002700-101003198	K562	blood:	n/a	n/a
17	CHD2	chr9:101003682-101003688	K562	blood:	n/a	n/a
18	CTCF	chr9:101004080-101004230	HepG2	liver:	n/a	n/a
19	CTCF	chr9:101003943-101004444	K562	blood:	n/a	n/a
20	CTCF	chr9:101004103-101004274	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr9:101004120-101004270	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr9:101004160-101004310	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr9:100996704-100996948	HepG2	liver:	n/a	chr9:100996739-100996746
24	CTCF	chr9:101004040-101004190	GM12870	blood:	n/a	n/a
25	CTCF	chr9:100996780-100996930	GM12866	blood:	n/a	n/a
26	CTCF	chr9:100996760-100996910	MCF-7	breast:	n/a	n/a
27	CTCF	chr9:100996768-100996922	HepG2	liver:	n/a	n/a
28	CTCF	chr9:100996840-100996990	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr9:101004160-101004310	GM12878	blood:	n/a	n/a
30	CTCF	chr9:100996780-100996930	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr9:100996800-100996950	HepG2	liver:	n/a	n/a
32	CTCF	chr9:101004100-101004250	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr9:101004080-101004230	MCF-7	breast:	n/a	n/a
34	CTCF	chr9:101004040-101004190	HEK293	kidney:	n/a	n/a
35	CTCF	chr9:100996700-100996850	GM12873	blood:	n/a	chr9:100996739-100996746
36	CTCF	chr9:100998774-100998809	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr9:100996800-100996950	GM12869	blood:	n/a	n/a
38	CTCF	chr9:100996799-100996925	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr9:101004080-101004230	GM12874	blood:	n/a	n/a
40	CTCF	chr9:100996760-100996910	GM12871	blood:	n/a	n/a
41	CTCF	chr9:100996840-100996990	AG04450	lung:	n/a	n/a
42	CTCF	chr9:101004093-101004282	A549	lung:	n/a	n/a
43	CTCF	chr9:100996784-100996949	GM12878	blood:	n/a	n/a
44	CTCF	chr9:101004102-101004253	GM19238	blood:	n/a	n/a
45	CTCF	chr9:101004120-101004270	HCT-116	colon:	n/a	n/a
46	CTCF	chr9:101003980-101004130	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr9:100996760-100996910	HMEC	breast:	n/a	n/a
48	CTCF	chr9:100996740-100996890	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr9:101004160-101004310	K562	blood:	n/a	n/a
50	CTCF	chr9:100996780-100996930	Caco-2	colon:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100993462..100999076-chr9:101001061..101006420,6	MCF-7	breast:
2	chr9:100991762..100993372-chr9:101000957..101003101,2	MCF-7	breast:
3	chr9:100997333..100999921-chr9:101015854..101018462,2	MCF-7	breast:
4	chr9:101000479..101004519-chr9:101004686..101007074,4	MCF-7	breast:
5	chr9:101001678..101003268-chr9:101092460..101094630,2	K562	blood:
6	chr9:100746762..100748663-chr9:100996503..100998801,2	MCF-7	breast:
7	chr9:100818546..100820662-chr9:101005577..101007101,2	MCF-7	breast:
8	chr9:100836599..100837275-chr9:100996445..100997215,2	MCF-7	breast:
9	chr9:100991719..100993859-chr9:100997810..101000501,3	K562	blood:
10	chr9:100996906..100999553-chr9:101002652..101004386,2	MCF-7	breast:
11	chr9:100967742..100968255-chr9:100996195..100996846,2	MCF-7	breast:
12	chr9:101005587..101007898-chr9:101011469..101013243,2	MCF-7	breast:
13	chr9:100683384..100686138-chr9:101006133..101008454,2	MCF-7	breast:
14	chr9:101001085..101005688-chr9:101016159..101020159,7	MCF-7	breast:
15	chr9:101000479..101004519-chr9:101004686..101007074,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NANS-3	chr9:100997501-100997849	NONHSAT133603
2	lnc-NANS-3	chr9:100996991-100997196	NONHSAT133603

No data

Variant related genes	Relation type
TBC1D2	TF binding region
ENSG00000224001	TF binding region
ENSG00000136932	chromatin interactions
ENSG00000224001	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000095383	chromatin interactions
ENSG00000095380	chromatin interactions

Extended variants
information (count: 439 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs879368	chr9:100995758-100995759	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368554625	chr9:100995762-100995763	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201287054	chr9:100995779-100995780	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372043060	chr9:100995784-100995785	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182371485	chr9:100995793-100995794	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147418283	chr9:100995797-100995798	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188345176	chr9:100995811-100995812	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139045055	chr9:100995812-100995813	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201781268	chr9:100995833-100995834	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116236735	chr9:100995872-100995873	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370978416	chr9:100995875-100995876	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534601664	chr9:100995898-100995899	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554302001	chr9:100995909-100995910	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112406755	chr9:100995915-100995916	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59157411	chr9:100995918-100995919	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28660099	chr9:100995932-100995933	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556651740	chr9:100995964-100995965	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115306873	chr9:100995999-100996000	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs41283620	chr9:100996018-100996019	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559222475	chr9:100996034-100996035	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192834178	chr9:100996057-100996058	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185397191	chr9:100996073-100996074	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4379551	chr9:100996082-100996083	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs530958030	chr9:100996107-100996108	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550764805	chr9:100996114-100996115	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs564580525	chr9:100996123-100996124	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188764435	chr9:100996126-100996127	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192664475	chr9:100996163-100996164	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570929984	chr9:100996219-100996220	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535799639	chr9:100996246-100996247	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74917374	chr9:100996275-100996276	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567926952	chr9:100996290-100996291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537057914	chr9:100996325-100996326	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112005323	chr9:100996340-100996341	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556589315	chr9:100996368-100996369	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12344253	chr9:100996369-100996370	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576573726	chr9:100996426-100996427	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs4742719	chr9:100996437-100996438	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs372501496	chr9:100996459-100996460	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552785650	chr9:100996501-100996502	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573072988	chr9:100996502-100996503	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs541731908	chr9:100996520-100996521	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs562032218	chr9:100996530-100996531	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs575508727	chr9:100996532-100996533	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs140871247	chr9:100996556-100996557	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs564561956	chr9:100996562-100996563	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs533499740	chr9:100996618-100996619	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs547193377	chr9:100996653-100996654	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs549270904	chr9:100996792-100996793	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs7869001	chr9:100996860-100996861	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100955800-101003200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:100961400-101001400	Weak transcription	Right Atrium	heart
3	chr9:100968400-100997600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr9:100968600-101010400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:100968800-100998000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:100968800-101011000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:100969400-101004800	Weak transcription	Brain Germinal Matrix	brain
8	chr9:100969600-100997200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:100970200-101001600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:100974800-101010600	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:100976400-100998800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:100980200-101010200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr9:100981800-101010400	Weak transcription	Fetal Thymus	thymus
14	chr9:100982800-101004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr9:100983000-101007200	Weak transcription	Fetal Brain Male	brain
16	chr9:100983200-100996600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr9:100983200-100997600	Weak transcription	Fetal Brain Female	brain
18	chr9:100983400-101006200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:100985600-100998200	Genic enhancers	Fetal Intestine Small	intestine
20	chr9:100985800-101002800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:100986000-101006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:100986200-100997600	Weak transcription	HUVEC	blood vessel
23	chr9:100986200-100998800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr9:100986200-100999000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr9:100987000-100995800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr9:100987000-100997200	Strong transcription	Lung	lung
27	chr9:100987000-100997800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr9:100987200-100996400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr9:100987200-100996800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr9:100987200-100997400	Strong transcription	Primary T cells from cord blood	blood
31	chr9:100987400-100996000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:100987800-100998200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:100988200-100995800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr9:100989600-101006400	Weak transcription	Psoas Muscle	Psoas
35	chr9:100989600-101016000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr9:100989800-100997600	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:100990600-100996200	Strong transcription	Ovary	ovary
38	chr9:100990800-100996400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:100991200-100995800	Genic enhancers	Hela-S3	cervix
40	chr9:100991400-101006200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr9:100991400-101006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:100991400-101006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr9:100991400-101010600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr9:100991400-101015400	Weak transcription	Brain Anterior Caudate	brain
45	chr9:100991600-100996400	Weak transcription	Small Intestine	intestine
46	chr9:100991600-101003600	Weak transcription	Colonic Mucosa	Colon
47	chr9:100991800-101011400	Weak transcription	Right Ventricle	heart
48	chr9:100992200-101003000	Weak transcription	Primary B cells from cord blood	blood
49	chr9:100992200-101012800	Weak transcription	Brain Substantia Nigra	brain
50	chr9:100992200-101016000	Weak transcription	Brain Inferior Temporal Lobe	brain

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