Variant report

Variant	esv1828038
Chromosome Location	chr10:692640-695237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:694301-694378	GM19239	blood:	n/a	n/a
2	CTCF	chr10:693878-693957	GM13976	blood:	n/a	n/a
3	MYC	chr10:693839-693958	H1-hESC	embryonic stem cell:	n/a	n/a
4	NR3C1	chr10:692818-695316	A549	lung:	n/a	n/a
5	PAX5	chr10:693270-693875	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:693737-693864	Gliobla	brain:	n/a	n/a
7	POU2F2	chr10:693225-694002	GM12878	blood:	n/a	n/a
8	STAT3	chr10:692757-692824	MCF10A-Er-Src	breast:	n/a	n/a
9	ZBTB33	chr10:694973-695272	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:693439-693489	GM12891	blood:	n/a
2	chr10:694898-694948	AG04449	skin:	fetal
3	chr10:693439-693489	MCF10A-Er-Src	breast:	n/a
4	chr10:694058-694108	SK-N-SH	brain:	n/a
5	chr10:693439-693489	AG09319	gingival:	n/a
6	chr10:693439-693489	ProgFib	skin:	n/a
7	chr10:693439-693489	A549	lung:	n/a
8	chr10:693439-693489	HUVEC	blood vessel:	n/a
9	chr10:694058-694108	HPAEpiC	pulmonary alveolar:	n/a
10	chr10:694898-694948	BE2_C	brain:	n/a
11	chr10:693439-693489	BJ	skin:	n/a
12	chr10:693439-693489	HNPCEpiC	eye:	n/a
13	chr10:694058-694108	HEK293	kidney:	embryo
14	chr10:694058-694108	GM06990	blood:	n/a
15	chr10:693439-693489	Hela-S3	cervix:	n/a
16	chr10:694898-694948	HPAEpiC	pulmonary alveolar:	n/a
17	chr10:694058-694108	HepG2	liver:	n/a
18	chr10:694058-694108	CMK	blood:	n/a
19	chr10:693439-693489	HEK293	kidney:	embryo
20	chr10:693439-693489	PANC-1	pancreas:	n/a
21	chr10:694058-694108	AG04450	lung:	fetal
22	chr10:694058-694108	AG09319	gingival:	n/a
23	chr10:694898-694948	SK-N-MC	brain:	n/a
24	chr10:694058-694108	PFSK-1	brain:	n/a
25	chr10:694898-694948	NB4	blood:	n/a
26	chr10:694898-694948	AG09319	gingival:	n/a
27	chr10:694058-694108	NHBE	bronchial:	n/a
28	chr10:694898-694948	PFSK-1	brain:	n/a
29	chr10:693439-693489	GM12878	blood:	n/a
30	chr10:694058-694108	HCF	heart:	n/a
31	chr10:694058-694108	AoSMC	blood vessel:	n/a
32	chr10:694898-694948	CMK	blood:	n/a
33	chr10:694898-694948	LNCaP	prostate:	n/a
34	chr10:693439-693489	AG04449	skin:	fetal
35	chr10:694898-694948	NHBE	bronchial:	n/a
36	chr10:694058-694108	U87	brain:	n/a
37	chr10:694058-694108	HRCEpiC	kidney:	n/a
38	chr10:693439-693489	GM12892	blood:	n/a
39	chr10:694058-694108	HAEpiC	amniotic membrane:	n/a
40	chr10:694058-694108	ovcar-3	ovarian:	n/a
41	chr10:694058-694108	HL-60	blood:	n/a
42	chr10:693439-693489	PFSK-1	brain:	n/a
43	chr10:694058-694108	PANC-1	pancreas:	n/a
44	chr10:694058-694108	SK-N-SH_RA	brain:	n/a
45	chr10:694898-694948	BJ	skin:	n/a
46	chr10:694058-694108	GM12891	blood:	n/a
47	chr10:694058-694108	HCT-116	colon:	n/a
48	chr10:694898-694948	GM12892	blood:	n/a
49	chr10:693439-693489	NHDF-neo	bronchial:	n/a
50	chr10:694898-694948	HCM	heart:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:692009..694331-chr10:706518..708449,2	MCF-7	breast:
2	chr10:691751..694285-chr10:694356..695999,2	K562	blood:
3	chr10:692996..695820-chr10:700101..701896,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR5699	TF binding region
PRR26	TF binding region
MIR5699	CpG island
PRR26	CpG island
ENSG00000180525	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114873172	chr10:692763-692764	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs544694462	chr10:692814-692815	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs527687366	chr10:692847-692848	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548774529	chr10:692918-692919	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574997976	chr10:692934-692935	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189624975	chr10:692936-692937	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560953175	chr10:692944-692945	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182700590	chr10:692945-692946	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs202160478	chr10:692964-692965	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530310667	chr10:692977-692978	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369764391	chr10:692983-692984	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs55740599	chr10:692999-693000	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540947456	chr10:693015-693016	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560514715	chr10:693027-693028	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187268736	chr10:693028-693029	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192111246	chr10:693054-693055	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569348329	chr10:693059-693060	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531859993	chr10:693060-693061	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377495127	chr10:693072-693073	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568470272	chr10:693117-693118	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536153477	chr10:693118-693119	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371217773	chr10:693129-693130	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553273802	chr10:693150-693151	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561201660	chr10:693154-693155	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566663554	chr10:693163-693164	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373956712	chr10:693197-693198	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs183431504	chr10:693198-693199	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs55827314	chr10:693239-693240	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543935743	chr10:693245-693246	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554244658	chr10:693252-693253	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs187500544	chr10:693253-693254	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540559528	chr10:693256-693257	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs113825339	chr10:693275-693276	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560793856	chr10:693285-693286	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs532880962	chr10:693298-693299	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191904371	chr10:693325-693326	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563111323	chr10:693334-693335	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs182601551	chr10:693337-693338	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs548710910	chr10:693346-693347	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs187071042	chr10:693375-693376	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs527644382	chr10:693382-693383	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs547476387	chr10:693419-693420	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377046734	chr10:693432-693433	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368221343	chr10:693439-693440	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368133647	chr10:693462-693463	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs192393467	chr10:693463-693464	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568737538	chr10:693507-693508	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs537542253	chr10:693508-693509	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs539717794	chr10:693515-693516	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554687471	chr10:693522-693523	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:672000-700000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:672600-695800	Weak transcription	NHLF	lung
3	chr10:681800-696200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:683000-696000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:684200-700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:685600-699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:685800-695200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:686200-696200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:687400-700000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:687600-695200	Weak transcription	Right Ventricle	heart
11	chr10:688800-693400	Weak transcription	Pancreas	Pancrea
12	chr10:688800-694400	Weak transcription	Gastric	stomach
13	chr10:688800-698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:688800-702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:689200-696000	Weak transcription	Psoas Muscle	Psoas
16	chr10:691200-695600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:691200-704200	Weak transcription	HSMM	muscle
18	chr10:691200-704800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:691400-694800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr10:691400-695000	Weak transcription	Colon Smooth Muscle	Colon
21	chr10:691400-695200	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:691400-695200	Weak transcription	Fetal Lung	lung
23	chr10:691400-695800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:691400-695800	Weak transcription	Brain Angular Gyrus	brain
25	chr10:691400-695800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:691400-695800	Weak transcription	Left Ventricle	heart
27	chr10:691400-704200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:691600-694200	Weak transcription	Esophagus	oesophagus
29	chr10:691600-695600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:691600-695600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:691800-692800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:691800-695200	Weak transcription	Brain Substantia Nigra	brain
33	chr10:692000-695400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr10:692400-695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:692400-695200	Weak transcription	Fetal Intestine Small	intestine
36	chr10:692400-695800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:692600-695600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr10:692800-693000	Enhancers	Brain Germinal Matrix	brain
39	chr10:692800-693000	Enhancers	Fetal Brain Male	brain
40	chr10:692800-693000	Enhancers	HepG2	liver
41	chr10:692800-695400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:693000-695600	Weak transcription	Fetal Brain Male	brain
43	chr10:693400-696000	Enhancers	Pancreas	Pancrea
44	chr10:694200-694600	Enhancers	Esophagus	oesophagus
45	chr10:694400-694600	Enhancers	Gastric	stomach
46	chr10:694400-694600	Enhancers	Spleen	Spleen
47	chr10:694600-696000	Weak transcription	Gastric	stomach
48	chr10:694600-696400	Weak transcription	Esophagus	oesophagus
49	chr10:694600-696400	Weak transcription	Spleen	Spleen
50	chr10:694800-695800	Enhancers	Pancreatic Islets	Pancreatic Islet

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