Variant report

Variant	esv2540773
Chromosome Location	chr9:100760463-100762115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:100760360-100760510	MCF-7	breast:	n/a	n/a
2	IRF3	chr9:100760585-100760593	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:100759981-100760472	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:100761523-100762920	K562	blood:	n/a	n/a
5	POLR2A	chr9:100760640-100760779	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr9:100761542-100761776	HepG2	liver:	n/a	n/a
7	POLR2A	chr9:100759621-100760871	K562	blood:	n/a	n/a
8	POLR2A	chr9:100759999-100760467	GM12878	blood:	n/a	n/a
9	POLR2A	chr9:100761793-100761800	K562	blood:	n/a	n/a
10	POLR2A	chr9:100759993-100760543	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr9:100761490-100762019	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr9:100761631-100762282	K562	blood:	n/a	n/a
13	POLR2A	chr9:100761925-100762215	K562	blood:	n/a	n/a
14	POLR2A	chr9:100760016-100760510	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:100761986-100762268	HepG2	liver:	n/a	n/a
16	POLR2A	chr9:100760057-100760581	HL-60	blood:	n/a	n/a
17	POLR2A	chr9:100759301-100760926	K562	blood:	n/a	n/a
18	POLR2A	chr9:100761812-100762096	K562	blood:	n/a	n/a
19	POLR2A	chr9:100759588-100760654	K562	blood:	n/a	n/a
20	POLR2A	chr9:100761708-100762997	K562	blood:	n/a	n/a
21	POLR2A	chr9:100759649-100760544	A549	lung:	n/a	n/a
22	POLR2A	chr9:100759737-100760968	HepG2	liver:	n/a	n/a
23	POLR2A	chr9:100761676-100762040	HepG2	liver:	n/a	n/a
24	POLR2A	chr9:100761809-100762343	K562	blood:	n/a	n/a
25	POLR2A	chr9:100760313-100760563	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr9:100760044-100760610	GM12878	blood:	n/a	n/a
27	POLR2A	chr9:100760610-100760636	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr9:100762098-100762134	K562	blood:	n/a	n/a
29	POLR2A	chr9:100761720-100761964	MCF-7	breast:	n/a	n/a
30	POLR2A	chr9:100759965-100760592	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100683227..100687367-chr9:100758311..100762778,5	K562	blood:
2	chr9:100757927..100760728-chr9:100775253..100778756,3	MCF-7	breast:

No data

Variant related genes	Relation type
ANP32B	TF binding region
ENSG00000136932	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114305822	chr9:100760592-100760593	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533967332	chr9:100760602-100760603	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560160596	chr9:100760622-100760623	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527595923	chr9:100760641-100760642	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377733046	chr9:100760649-100760650	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112228774	chr9:100760704-100760705	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76213015	chr9:100760709-100760710	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577877738	chr9:100760722-100760723	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540215290	chr9:100760725-100760726	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs186984402	chr9:100760757-100760758	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529344158	chr9:100760774-100760775	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs543126854	chr9:100760783-100760784	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562994430	chr9:100760795-100760796	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373300008	chr9:100760796-100760797	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531779345	chr9:100760797-100760798	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377329099	chr9:100760807-100760808	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs138669342	chr9:100760844-100760845	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552493990	chr9:100760864-100760865	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs61757702	chr9:100760912-100760913	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535530800	chr9:100760942-100760943	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369938387	chr9:100760970-100760971	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547724231	chr9:100761048-100761049	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10984703	chr9:100761067-100761068	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10984704	chr9:100761076-100761077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10984705	chr9:100761077-100761078	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566116512	chr9:100761112-100761113	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10984707	chr9:100761220-100761221	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570708315	chr9:100761311-100761312	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148729492	chr9:100761362-100761363	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535109796	chr9:100761384-100761385	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534114514	chr9:100761386-100761387	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150949335	chr9:100761387-100761388	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200251371	chr9:100761388-100761389	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10984709	chr9:100761397-100761398	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537603561	chr9:100761436-100761437	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140721915	chr9:100761439-100761440	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555421710	chr9:100761448-100761449	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535917188	chr9:100761491-100761492	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577805081	chr9:100761498-100761499	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540508345	chr9:100761514-100761515	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554141901	chr9:100761526-100761527	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150076544	chr9:100761544-100761545	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs57559429	chr9:100761573-100761574	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562930974	chr9:100761588-100761589	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555586061	chr9:100761594-100761595	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184224041	chr9:100761607-100761608	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572068072	chr9:100761664-100761665	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565466648	chr9:100761759-100761760	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75749797	chr9:100761829-100761830	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547663434	chr9:100761876-100761877	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 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:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100748000-100760800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr9:100748000-100767200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:100748400-100761600	Weak transcription	Brain Anterior Caudate	brain
4	chr9:100749200-100767200	Weak transcription	Esophagus	oesophagus
5	chr9:100750000-100767200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:100750000-100767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:100750800-100764000	Weak transcription	Fetal Brain Female	brain
8	chr9:100751000-100761800	Weak transcription	Right Atrium	heart
9	chr9:100751000-100764200	Weak transcription	Fetal Brain Male	brain
10	chr9:100751000-100765200	Weak transcription	Aorta	Aorta
11	chr9:100752000-100784000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:100753000-100761600	Weak transcription	HSMMtube	muscle
13	chr9:100753000-100767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:100753000-100768400	Weak transcription	Fetal Heart	heart
15	chr9:100753000-100769000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:100753400-100767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:100753600-100767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:100754600-100784200	Strong transcription	Dnd41	blood
19	chr9:100754600-100784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:100755200-100782200	Strong transcription	HepG2	liver
21	chr9:100755200-100783800	Strong transcription	NHEK	skin
22	chr9:100755400-100763800	Weak transcription	Gastric	stomach
23	chr9:100755400-100783000	Weak transcription	Stomach Mucosa	stomach
24	chr9:100755600-100769200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr9:100755600-100784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:100755800-100761400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr9:100755800-100782200	Strong transcription	K562	blood
28	chr9:100756000-100777800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:100756200-100761600	Weak transcription	Ovary	ovary
30	chr9:100756200-100767200	Weak transcription	Colonic Mucosa	Colon
31	chr9:100756400-100763000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:100756400-100767200	Weak transcription	Spleen	Spleen
33	chr9:100756400-100772600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:100756400-100783600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:100756400-100783800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr9:100756400-100784400	Strong transcription	Fetal Thymus	thymus
37	chr9:100756600-100761600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr9:100756600-100762400	Weak transcription	Small Intestine	intestine
39	chr9:100756600-100763000	Strong transcription	Hela-S3	cervix
40	chr9:100756600-100767600	Weak transcription	Brain Germinal Matrix	brain
41	chr9:100756600-100785600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr9:100756800-100765600	Strong transcription	Fetal Muscle Leg	muscle
43	chr9:100756800-100771600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:100756800-100771800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr9:100756800-100781200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr9:100756800-100783000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:100756800-100783400	Strong transcription	HMEC	breast
48	chr9:100757000-100762600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr9:100757000-100762600	Strong transcription	NH-A	brain
50	chr9:100757000-100762800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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