Variant report

Variant	esv3313541
Chromosome Location	chr10:1234774-1236511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
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	BCL11A	chr10:1235668-1235923	GM12878	blood:	n/a	n/a
2	BHLHE40	chr10:1236053-1236273	K562	blood:	n/a	n/a
3	CBX3	chr10:1235483-1236004	K562	blood:	n/a	n/a
4	CEBPB	chr10:1236301-1236527	HepG2	liver:	n/a	n/a
5	E2F6	chr10:1235366-1236220	K562	blood:	n/a	n/a
6	E2F6	chr10:1235434-1235712	K562	blood:	n/a	n/a
7	E2F6	chr10:1235794-1236051	K562	blood:	n/a	n/a
8	E2F6	chr10:1235848-1236017	K562	blood:	n/a	n/a
9	FOS	chr10:1234450-1234795	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr10:1234542-1234790	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr10:1234571-1234791	MCF10A-Er-Src	breast:	n/a	n/a
12	IRF4	chr10:1235583-1235988	GM12878	blood:	n/a	n/a
13	MAX	chr10:1235784-1235988	K562	blood:	n/a	n/a
14	MAX	chr10:1235726-1235751	A549	lung:	n/a	chr10:1235738-1235748
15	MAX	chr10:1235273-1236335	K562	blood:	n/a	chr10:1235765-1235775 chr10:1235711-1235721 chr10:1235738-1235748
16	MAX	chr10:1235685-1236079	K562	blood:	n/a	chr10:1235765-1235775 chr10:1235711-1235721 chr10:1235738-1235748
17	MAX	chr10:1235543-1235723	K562	blood:	n/a	chr10:1235711-1235721
18	MAX	chr10:1235743-1235760	NB4	blood:	n/a	n/a
19	MYC	chr10:1235546-1236011	K562	blood:	n/a	chr10:1235765-1235775 chr10:1235711-1235721 chr10:1235738-1235748
20	MYC	chr10:1235667-1235905	K562	blood:	n/a	chr10:1235765-1235775 chr10:1235711-1235721 chr10:1235738-1235748
21	POLR2A	chr10:1234574-1234870	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr10:1235485-1236074	GM12878	blood:	n/a	n/a
23	REST	chr10:1234575-1234956	H1-neurons	neurons:	n/a	n/a
24	REST	chr10:1235530-1235912	U87	brain:	n/a	chr10:1235571-1235589
25	REST	chr10:1235623-1235887	U87	brain:	n/a	n/a
26	SPI1	chr10:1235631-1235837	K562	blood:	n/a	n/a
27	STAT3	chr10:1235219-1235419	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr10:1234359-1234782	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr10:1234538-1234780	MCF10A-Er-Src	breast:	n/a	n/a
30	USF1	chr10:1235631-1235952	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:1236072-1236122	PANC-1	pancreas:	n/a
2	chr10:1235975-1236025	H1-hESC	embryonic stem cell:	embryo
3	chr10:1234979-1235029	HCT-116	colon:	n/a
4	chr10:1234983-1235033	BE2_C	brain:	n/a
5	chr10:1234979-1235029	IMR90	lung:	fetal
6	chr10:1234979-1235029	AG04449	skin:	fetal
7	chr10:1234983-1235033	BJ	skin:	n/a
8	chr10:1234979-1235029	MCF10A-Er-Src	breast:	n/a
9	chr10:1236072-1236122	ProgFib	skin:	n/a
10	chr10:1234983-1235033	AG04449	skin:	fetal
11	chr10:1234983-1235033	PFSK-1	brain:	n/a
12	chr10:1234979-1235029	SKMC	muscle:	n/a
13	chr10:1234983-1235033	SK-N-MC	brain:	n/a
14	chr10:1234983-1235033	HepG2	liver:	n/a
15	chr10:1236072-1236122	MCF10A-Er-Src	breast:	n/a
16	chr10:1235975-1236025	MCF-7	breast:	n/a
17	chr10:1235975-1236025	CMK	blood:	n/a
18	chr10:1235975-1236025	GM12891	blood:	n/a
19	chr10:1234979-1235029	HPAEpiC	pulmonary alveolar:	n/a
20	chr10:1234983-1235033	Jurkat	blood:	n/a
21	chr10:1234983-1235033	AG09319	gingival:	n/a
22	chr10:1234979-1235029	PFSK-1	brain:	n/a
23	chr10:1234983-1235033	GM12878	blood:	n/a
24	chr10:1236072-1236122	HCF	heart:	n/a
25	chr10:1234983-1235033	GM12892	blood:	n/a
26	chr10:1234983-1235033	GM12891	blood:	n/a
27	chr10:1235975-1236025	AG10803	skin:	n/a
28	chr10:1234983-1235033	SKMC	muscle:	n/a
29	chr10:1236072-1236122	HRCEpiC	kidney:	n/a
30	chr10:1235975-1236025	GM12892	blood:	n/a
31	chr10:1235975-1236025	HRE	kidney:	n/a
32	chr10:1235975-1236025	GM12878	blood:	n/a
33	chr10:1235975-1236025	HMEC	breast:	n/a
34	chr10:1234979-1235029	HMEC	breast:	n/a
35	chr10:1234983-1235033	HMEC	breast:	n/a
36	chr10:1235975-1236025	HL-60	blood:	n/a
37	chr10:1235975-1236025	SK-N-MC	brain:	n/a
38	chr10:1235975-1236025	T-47D	breast:	n/a
39	chr10:1234983-1235033	PrEC	prostate:	n/a
40	chr10:1236072-1236122	HMEC	breast:	n/a
41	chr10:1236072-1236122	PrEC	prostate:	n/a
42	chr10:1234979-1235029	HCF	heart:	n/a
43	chr10:1234979-1235029	AG09319	gingival:	n/a
44	chr10:1235975-1236025	AG09319	gingival:	n/a
45	chr10:1235975-1236025	AG09309	skin:	n/a
46	chr10:1234983-1235033	NHDF-neo	bronchial:	n/a
47	chr10:1234983-1235033	U87	brain:	n/a
48	chr10:1236072-1236122	U87	brain:	n/a
49	chr10:1236072-1236122	SK-N-SH	brain:	n/a
50	chr10:1234979-1235029	AG09309	skin:	n/a

No data

Variant related genes	Relation type
ADARB2	TF binding region
ADARB2	CpG island

Extended variants
information (count: 81 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139516464	chr10:1234784-1234785	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552584749	chr10:1234794-1234795	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs11250322	chr10:1234850-1234851	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs144247904	chr10:1234853-1234854	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs183294611	chr10:1234870-1234871	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs562089270	chr10:1234880-1234881	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs548184127	chr10:1234896-1234897	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150637980	chr10:1234957-1234958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527361117	chr10:1234960-1234961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112988486	chr10:1234968-1234969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547563654	chr10:1234984-1234985	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs187880793	chr10:1234994-1234995	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs1392831	chr10:1235018-1235019	Weak transcription Enhancers Flanking Active TSS	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74986819	chr10:1235030-1235031	Weak transcription Enhancers Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs569958917	chr10:1235055-1235056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs527653649	chr10:1235075-1235076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189910541	chr10:1235209-1235210	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs371629379	chr10:1235229-1235230	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs368719595	chr10:1235233-1235234	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs182240011	chr10:1235290-1235291	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs35758922	chr10:1235310-1235311	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs574521570	chr10:1235323-1235324	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs540326964	chr10:1235334-1235335	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541329003	chr10:1235357-1235358	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs149818862	chr10:1235379-1235380	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs11250323	chr10:1235393-1235394	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs75343418	chr10:1235441-1235442	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs532015768	chr10:1235449-1235450	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs542186079	chr10:1235477-1235478	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561663092	chr10:1235500-1235501	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs145831835	chr10:1235537-1235538	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs547471753	chr10:1235539-1235540	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs570562945	chr10:1235604-1235605	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs533135506	chr10:1235606-1235607	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs556879137	chr10:1235638-1235639	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs569786955	chr10:1235664-1235665	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs535720423	chr10:1235668-1235669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs116349949	chr10:1235669-1235670	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs568106081	chr10:1235722-1235723	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs12241246	chr10:1235819-1235820	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs71482841	chr10:1235846-1235847	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs113489139	chr10:1235873-1235874	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs533941877	chr10:1235879-1235880	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs71507607	chr10:1235899-1235900	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369577534	chr10:1235920-1235921	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs553802510	chr10:1235966-1235967	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs188008618	chr10:1235998-1235999	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs576744770	chr10:1236050-1236051	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs35270591	chr10:1236053-1236054	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs556695034	chr10:1236055-1236056	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1228200-1239000	Weak transcription	Primary T cells from cord blood	blood
2	chr10:1232200-1235600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:1232800-1239000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:1233000-1235600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:1233400-1234800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:1233400-1234800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr10:1233400-1236000	Enhancers	Fetal Intestine Large	intestine
8	chr10:1233600-1236600	Enhancers	Brain Angular Gyrus	brain
9	chr10:1234000-1234800	Enhancers	Fetal Lung	lung
10	chr10:1234200-1234800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:1234200-1234800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr10:1234200-1236200	Enhancers	Brain Anterior Caudate	brain
13	chr10:1234200-1238000	Enhancers	Brain Substantia Nigra	brain
14	chr10:1234200-1238400	Enhancers	Brain Hippocampus Middle	brain
15	chr10:1234200-1241600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr10:1234400-1234800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:1234400-1234800	Bivalent Enhancer	HepG2	liver
18	chr10:1234400-1235200	Weak transcription	Fetal Intestine Small	intestine
19	chr10:1234400-1235400	Weak transcription	Fetal Kidney	kidney
20	chr10:1234400-1236200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr10:1234600-1234800	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr10:1234600-1236000	Enhancers	Pancreas	Pancrea
23	chr10:1234800-1235000	Enhancers	Brain Cingulate Gyrus	brain
24	chr10:1235000-1235200	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr10:1235200-1235400	Enhancers	Fetal Intestine Small	intestine
26	chr10:1235200-1235400	Bivalent Enhancer	HepG2	liver
27	chr10:1235200-1235800	Enhancers	Brain Cingulate Gyrus	brain
28	chr10:1235400-1235600	Enhancers	Fetal Kidney	kidney
29	chr10:1235400-1241000	Weak transcription	Fetal Intestine Small	intestine
30	chr10:1235800-1239000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr10:1236000-1255200	Weak transcription	Pancreas	Pancrea
32	chr10:1236200-1241400	Weak transcription	Brain Anterior Caudate	brain
33	chr10:1236200-1241400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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