Variant report

Variant	esv2761274
Chromosome Location	chr9:102972481-102993911
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:102976264..102977158-chr9:102984746..102985685,2	MCF-7	breast:
2	chr9:102790104..102791073-chr9:102977999..102979056,8	MCF-7	breast:
3	chr9:102789117..102789782-chr9:102978268..102978906,2	MCF-7	breast:
4	chr9:102978273..102980168-chr9:102986592..102988351,2	K562	blood:
5	chr9:102977350..102979200-chr9:102982388..102983975,2	MCF-7	breast:
6	chr9:102790214..102791085-chr9:102984669..102985566,5	MCF-7	breast:
7	chr9:102976264..102977158-chr9:102984746..102985685,2	MCF-7	breast:
8	chr9:102790163..102791038-chr9:102978082..102979151,4	MCF-7	breast:
9	chr9:102978273..102980168-chr9:102986592..102988351,2	K562	blood:
10	chr9:102977350..102979200-chr9:102982388..102983975,2	MCF-7	breast:
11	chr9:102898852..102899861-chr9:102978063..102979186,4	MCF-7	breast:
12	chr9:101982451..101985666-chr9:102989848..102992402,3	MCF-7	breast:
13	chr9:102898839..102899539-chr9:102977752..102979100,4	MCF-7	breast:
14	chr17:45972474..45973351-chr9:102973302..102973822,4	HCT-116	colon:
15	chr9:102790549..102791210-chr9:102985056..102985677,2	K562	blood:
16	chr9:102860126..102862049-chr9:102977512..102980181,2	MCF-7	breast:
17	chr9:102790085..102791080-chr9:102977840..102979106,8	K562	blood:
18	chr9:102899936..102901498-chr9:102977241..102979211,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119523	chromatin interactions
ENSG00000023318	chromatin interactions
ENSG00000106803	chromatin interactions
ENSG00000119509	chromatin interactions
ENSG00000264920	chromatin interactions

Extended variants
information (count: 715 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542865261	chr9:102972613-102972614	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558904966	chr9:102972616-102972617	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs74893592	chr9:102972637-102972638	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs531940423	chr9:102972642-102972643	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545756898	chr9:102972664-102972665	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142065506	chr9:102972708-102972709	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs527715303	chr9:102972854-102972855	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547740940	chr9:102972932-102972933	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190240636	chr9:102972974-102972975	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530167433	chr9:102973001-102973002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112276913	chr9:102973046-102973047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568755891	chr9:102973061-102973062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537639674	chr9:102973092-102973093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147762181	chr9:102973093-102973094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571183919	chr9:102973148-102973149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533571295	chr9:102973189-102973190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553690551	chr9:102973217-102973218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573658907	chr9:102973317-102973318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536394840	chr9:102973341-102973342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182150132	chr9:102973378-102973379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577135977	chr9:102973382-102973383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545597058	chr9:102973383-102973384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368567912	chr9:102973408-102973409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112048380	chr9:102973444-102973445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568090567	chr9:102973445-102973446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565599939	chr9:102973457-102973458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572664473	chr9:102973503-102973504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541076710	chr9:102973512-102973513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561288298	chr9:102973633-102973634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34666451	chr9:102973669-102973670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1999877	chr9:102973719-102973720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs574800622	chr9:102973766-102973767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187226856	chr9:102973780-102973781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563424097	chr9:102973783-102973784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141881758	chr9:102973799-102973800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs62578290	chr9:102973822-102973823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551131215	chr9:102973837-102973838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541817484	chr9:102973900-102973901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370397051	chr9:102973920-102973921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147108454	chr9:102973998-102973999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189916859	chr9:102974008-102974009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140828414	chr9:102974144-102974145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112643317	chr9:102974217-102974218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374681584	chr9:102974253-102974254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534049596	chr9:102974273-102974274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35256824	chr9:102974356-102974357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541897674	chr9:102974392-102974393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547373986	chr9:102974426-102974427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560217985	chr9:102974437-102974438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535856216	chr9:102974444-102974445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102940400-102978000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:102953000-102976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:102953800-102977600	Weak transcription	Fetal Stomach	stomach
4	chr9:102954600-102978000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr9:102955000-102988400	Weak transcription	Dnd41	blood
6	chr9:102955200-102999600	Weak transcription	Lung	lung
7	chr9:102956200-102983400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:102957200-102973200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:102957400-102977800	Weak transcription	Aorta	Aorta
10	chr9:102958800-103014400	Weak transcription	Hela-S3	cervix
11	chr9:102959000-102984400	Weak transcription	HepG2	liver
12	chr9:102959800-102977600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:102959800-102977600	Weak transcription	Ovary	ovary
14	chr9:102959800-102994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:102960800-102978000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:102962000-102989200	Weak transcription	Fetal Lung	lung
17	chr9:102964800-102988400	Weak transcription	Fetal Intestine Large	intestine
18	chr9:102965400-102976400	Weak transcription	Fetal Heart	heart
19	chr9:102967600-102975600	Weak transcription	HSMM	muscle
20	chr9:102967600-102977800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:102967600-102978400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:102967600-102988600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:102969800-102978600	Weak transcription	Right Ventricle	heart
24	chr9:102971600-102972600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:102972000-102972600	Active TSS	Primary B cells from peripheral blood	blood
26	chr9:102972000-102972600	Active TSS	Primary T cells from cord blood	blood
27	chr9:102972000-102972600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr9:102972000-102972600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:102972000-102972600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr9:102972000-102972600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:102972000-102972600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr9:102972000-102972600	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr9:102972000-102972600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:102972000-102972600	Active TSS	Liver	Liver
35	chr9:102972000-102972600	Active TSS	Duodenum Mucosa	Duodenum
36	chr9:102972000-102972600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr9:102972000-102972600	Active TSS	Placenta	Placenta
38	chr9:102972000-102972600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr9:102972000-102972800	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr9:102972000-102972800	Active TSS	Primary T cells fromperipheralblood	blood
41	chr9:102972000-102972800	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr9:102972000-102972800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr9:102972000-102972800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr9:102972000-102972800	Active TSS	Adipose Nuclei	Adipose
45	chr9:102972000-102972800	Active TSS	Right Atrium	heart
46	chr9:102972000-102972800	Active TSS	GM12878-XiMat	blood
47	chr9:102972000-102973000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr9:102972000-102973000	Flanking Active TSS	K562	blood
49	chr9:102972000-102988400	Weak transcription	Fetal Intestine Small	intestine
50	chr9:102972200-102972600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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