Variant report

Variant	esv3338700
Chromosome Location	chr9:100564756-100567504
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100567218..100570079-chr9:100571422..100572932,2	K562	blood:
2	chr9:100458131..100460553-chr9:100565318..100568511,3	MCF-7	breast:
3	chr9:100564087..100566855-chr9:100614362..100616413,2	MCF-7	breast:
4	chr9:100564515..100567893-chr9:100582298..100586043,4	MCF-7	breast:
5	chr9:100560448..100563206-chr9:100564370..100567117,3	MCF-7	breast:
6	chr9:100512323..100515740-chr9:100564209..100566797,3	MCF-7	breast:
7	chr9:100553353..100555259-chr9:100563805..100566099,2	MCF-7	breast:
8	chr9:100556229..100558393-chr9:100563519..100565810,3	MCF-7	breast:
9	chr9:100563780..100567057-chr9:100567518..100571604,5	K562	blood:
10	chr13:50510512..50511013-chr9:100565675..100566175,2	NB4	blood:
11	chr9:100554548..100556710-chr9:100564106..100565794,2	K562	blood:
12	chr9:100548531..100552481-chr9:100563456..100568278,5	MCF-7	breast:
13	chr9:100529991..100532148-chr9:100565472..100567018,2	MCF-7	breast:
14	chr9:100552530..100555931-chr9:100564529..100567478,4	MCF-7	breast:
15	chr9:100458238..100461123-chr9:100563334..100564904,2	MCF-7	breast:
16	chr9:100564653..100566518-chr9:100684080..100685745,2	MCF-7	breast:
17	chr9:100476522..100478134-chr9:100564104..100567075,2	K562	blood:
18	chr9:100459437..100460978-chr9:100564253..100567153,2	MCF-7	breast:
19	chr9:100563307..100565719-chr9:100637927..100639761,2	MCF-7	breast:
20	chr9:100473042..100473573-chr9:100565746..100566684,3	MCF-7	breast:
21	chr9:100475511..100477601-chr9:100564696..100566585,2	MCF-7	breast:
22	chr9:100513670..100516311-chr9:100564353..100566639,2	MCF-7	breast:
23	chr9:100565524..100567505-chr9:100607472..100609592,3	MCF-7	breast:
24	chr9:100470983..100474278-chr9:100563427..100567562,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123178	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000136936	chromatin interactions
ENSG00000178919	chromatin interactions
ENSG00000236130	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573885709	chr9:100564805-100564806	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs117811946	chr9:100564806-100564807	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs529202619	chr9:100564818-100564819	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs562979145	chr9:100564821-100564822	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs73655183	chr9:100564836-100564837	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187653563	chr9:100564899-100564900	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560480808	chr9:100564903-100564904	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs145797305	chr9:100564959-100564960	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs77532019	chr9:100564963-100564964	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs527589717	chr9:100564981-100564982	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs541268193	chr9:100564987-100564988	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs549297561	chr9:100564989-100564990	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs189997607	chr9:100564998-100564999	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs531508585	chr9:100565035-100565036	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549680123	chr9:100565089-100565090	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs113721833	chr9:100565158-100565159	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538314753	chr9:100565209-100565210	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs553354141	chr9:100565333-100565334	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs569694992	chr9:100565395-100565396	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs182537937	chr9:100565402-100565403	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs533495528	chr9:100565419-100565420	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs528802361	chr9:100565436-100565437	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs113300935	chr9:100565441-100565442	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs369495948	chr9:100565442-100565443	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs3053745	chr9:100565456-100565457	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs570017894	chr9:100565500-100565501	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs574181288	chr9:100565503-100565504	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs544813498	chr9:100565536-100565537	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs556447321	chr9:100565538-100565539	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs144379151	chr9:100565547-100565548	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs13289390	chr9:100565568-100565569	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187244768	chr9:100565589-100565590	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs139766988	chr9:100565706-100565707	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs192271585	chr9:100565736-100565737	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs542968312	chr9:100565783-100565784	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs77394667	chr9:100565813-100565814	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs531470503	chr9:100565819-100565820	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs534974102	chr9:100565857-100565858	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs372631296	chr9:100565883-100565884	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs549955120	chr9:100565885-100565886	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs571306277	chr9:100565903-100565904	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs532279187	chr9:100565918-100565919	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs547079854	chr9:100565928-100565929	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs565370450	chr9:100565934-100565935	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs535823510	chr9:100565943-100565944	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs112218712	chr9:100565955-100565956	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs114804130	chr9:100566031-100566032	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs567966550	chr9:100566033-100566034	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs538117355	chr9:100566046-100566047	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs556721780	chr9:100566101-100566102	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	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
Breast cancer	22522925	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100563600-100565600	Enhancers	HMEC	breast
2	chr9:100564000-100565400	Enhancers	NHEK	skin
3	chr9:100564000-100565800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:100564200-100564800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:100564200-100564800	Enhancers	Osteobl	bone
6	chr9:100564200-100565200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:100564200-100565400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:100564200-100565400	Enhancers	NH-A	brain
9	chr9:100564400-100564800	Enhancers	Fetal Intestine Small	intestine
10	chr9:100564400-100564800	Bivalent Enhancer	Placenta	Placenta
11	chr9:100564400-100565000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:100564400-100565200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:100564400-100565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr9:100564400-100565400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:100564400-100565400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:100564400-100565600	Weak transcription	Esophagus	oesophagus
17	chr9:100564600-100564800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:100564600-100564800	Flanking Active TSS	A549	lung
19	chr9:100564600-100565400	Enhancers	Hela-S3	cervix
20	chr9:100564600-100565800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:100564800-100565000	Enhancers	HepG2	liver
22	chr9:100564800-100565200	Enhancers	Fetal Intestine Large	intestine
23	chr9:100564800-100565200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr9:100564800-100565200	Weak transcription	Osteobl	bone
25	chr9:100564800-100565400	Weak transcription	Fetal Intestine Small	intestine
26	chr9:100564800-100565800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:100564800-100566400	Active TSS	A549	lung
28	chr9:100565000-100565400	Weak transcription	HepG2	liver
29	chr9:100565200-100565400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:100565200-100565400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr9:100565200-100565400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:100565200-100565600	Active TSS	Brain Germinal Matrix	brain
33	chr9:100565200-100565600	Enhancers	Osteobl	bone
34	chr9:100565200-100565800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr9:100565200-100566200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr9:100565400-100565600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:100565400-100565600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr9:100565400-100565600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr9:100565400-100565600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr9:100565400-100565600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr9:100565400-100565600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr9:100565400-100565600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:100565400-100565600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:100565400-100565600	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr9:100565400-100565600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr9:100565400-100565600	Flanking Active TSS	Fetal Brain Female	brain
47	chr9:100565400-100565600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr9:100565400-100565600	Active TSS	Right Atrium	heart
49	chr9:100565400-100565600	Active TSS	Hela-S3	cervix
50	chr9:100565400-100565600	Active TSS	NH-A	brain

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