Variant report

Variant	esv3333234
Chromosome Location	chr10:702052-705350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:704223-704291	GM10266	blood:	n/a	n/a
2	CTCF	chr10:704201-704255	Kidney_OC	kidney:	n/a	n/a
3	MYC	chr10:704002-704009	MCF-7	breast:	n/a	n/a
4	MYC	chr10:704010-704125	MCF-7	breast:	n/a	n/a
5	POLR2A	chr10:703979-704048	MCF-7	breast:	n/a	n/a
6	POLR2A	chr10:704047-704193	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr10:704863-705051	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:704734-705237	HepG2	liver:	n/a	n/a
9	POLR2A	chr10:703411-703472	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:702840-703117	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr10:703750-703888	MCF-7	breast:	n/a	n/a
12	POLR2A	chr10:703922-703932	MCF-7	breast:	n/a	n/a
13	POLR2A	chr10:703351-703389	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:703975-704015	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr10:704781-705340	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr10:704228-704274	MCF-7	breast:	n/a	n/a
17	POLR2A	chr10:704066-704204	MCF-7	breast:	n/a	n/a
18	POLR2A	chr10:703909-703918	MCF-7	breast:	n/a	n/a
19	POLR2A	chr10:703987-704307	A549	lung:	n/a	n/a
20	POLR2A	chr10:703574-703790	Gliobla	brain:	n/a	n/a
21	SUZ12	chr10:704853-705236	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF3	chr10:704981-705219	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:687008..688714-chr10:699568..702258,2	MCF-7	breast:
2	chr10:701409..702201-chr19:4341065..4341565,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242357	TF binding region
ENSG00000263511	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61833026	chr10:702073-702074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549765230	chr10:702074-702075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575231618	chr10:702078-702079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs58197499	chr10:702084-702085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374027119	chr10:702085-702086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540794026	chr10:702086-702087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150748655	chr10:702099-702100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59739391	chr10:702105-702106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143769111	chr10:702107-702108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs61833027	chr10:702111-702112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113734212	chr10:702116-702117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555521613	chr10:702146-702147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11253302	chr10:702148-702149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376268693	chr10:702159-702160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142932583	chr10:702171-702172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113347152	chr10:702175-702176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375359503	chr10:702176-702177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs57390988	chr10:702177-702178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11253303	chr10:702189-702190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199793171	chr10:702197-702198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11253304	chr10:702205-702206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11253305	chr10:702210-702211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370313393	chr10:702221-702222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368278029	chr10:702231-702232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367888898	chr10:702232-702233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372856404	chr10:702241-702242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374994827	chr10:702245-702246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11253306	chr10:702252-702253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563009573	chr10:702257-702258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374840267	chr10:702258-702259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368523033	chr10:702264-702265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11253307	chr10:702276-702277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57277652	chr10:702287-702288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531563504	chr10:702355-702356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566937736	chr10:702357-702358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146522871	chr10:702371-702372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61833028	chr10:702390-702391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375374394	chr10:702420-702421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529973298	chr10:702461-702462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141089296	chr10:702536-702537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78355067	chr10:702570-702571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549267274	chr10:702608-702609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532221426	chr10:702618-702619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551942375	chr10:702666-702667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568935710	chr10:702678-702679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148244055	chr10:702680-702681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562784078	chr10:702686-702687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554618570	chr10:702701-702702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568754114	chr10:702702-702703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534546321	chr10:702711-702712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:688800-702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:691200-704200	Weak transcription	HSMM	muscle
3	chr10:691200-704800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:691400-704200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:696200-703000	Enhancers	Brain Cingulate Gyrus	brain
6	chr10:696800-702400	Weak transcription	Small Intestine	intestine
7	chr10:697200-704400	Weak transcription	Liver	Liver
8	chr10:697200-705200	Weak transcription	NHLF	lung
9	chr10:698400-723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:698800-704800	Weak transcription	Fetal Kidney	kidney
11	chr10:699200-706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:699200-707000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:700200-703200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:700200-704800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:700200-704800	Weak transcription	Adipose Nuclei	Adipose
16	chr10:700200-707000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:700200-708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:700400-702800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:700400-703200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:700400-704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:700400-705200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:700400-705400	Weak transcription	Colonic Mucosa	Colon
23	chr10:700600-702200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr10:700600-702600	Weak transcription	Right Ventricle	heart
25	chr10:700600-702600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr10:700600-704800	Weak transcription	Fetal Lung	lung
27	chr10:700600-704800	Weak transcription	NH-A	brain
28	chr10:700600-705200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr10:700600-705200	Weak transcription	HUVEC	blood vessel
30	chr10:700600-705600	Weak transcription	Fetal Muscle Leg	muscle
31	chr10:700800-704400	Weak transcription	Colon Smooth Muscle	Colon
32	chr10:700800-704400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:700800-705400	Weak transcription	Fetal Stomach	stomach
34	chr10:701000-704000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr10:701200-704400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:701200-704400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:701200-704400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr10:701200-704400	Weak transcription	Fetal Heart	heart
39	chr10:701200-704400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr10:701200-704800	Weak transcription	Fetal Intestine Small	intestine
41	chr10:701200-705600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:701400-704400	Weak transcription	Psoas Muscle	Psoas
43	chr10:701400-704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr10:701400-706800	Weak transcription	Stomach Mucosa	stomach
45	chr10:701400-707000	Weak transcription	Lung	lung
46	chr10:701400-707600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr10:701600-702600	Enhancers	Brain Angular Gyrus	brain
48	chr10:701600-702600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr10:701600-702600	Weak transcription	Left Ventricle	heart
50	chr10:701600-702600	Weak transcription	Pancreas	Pancrea

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