Variant report

Variant	esv9991
Chromosome Location	chr10:735338-736029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:735751-735902	HepG2	liver:	n/a	n/a
2	CHD1	chr10:733010-735707	IMR90	lung:	n/a	chr10:735580-735590
3	CHD1	chr10:735773-736854	IMR90	lung:	n/a	n/a
4	CHD2	chr10:735536-735543	H1-hESC	embryonic stem cell:	n/a	n/a
5	CREB1	chr10:735449-735952	A549	lung:	n/a	n/a
6	FOXP2	chr10:735700-736162	PFSK-1	brain:	n/a	n/a
7	HEY1	chr10:735417-735648	HepG2	liver:	n/a	chr10:735519-735534
8	HEY1	chr10:735439-735647	HepG2	liver:	n/a	chr10:735519-735534
9	MAX	chr10:735494-735641	HepG2	liver:	n/a	n/a
10	MAX	chr10:735281-735779	A549	lung:	n/a	n/a
11	MAX	chr10:735328-735726	HepG2	liver:	n/a	n/a
12	MAX	chr10:735966-736217	SK-N-SH	brain:	n/a	chr10:736086-736094
13	MAX	chr10:735387-735762	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr10:735358-735743	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr10:735281-735796	MCF-7	breast:	n/a	n/a
16	MAX	chr10:735340-735640	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAZ	chr10:733152-736855	IMR90	lung:	n/a	chr10:736086-736094
18	MXI1	chr10:733758-736567	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr10:735418-735654	HepG2	liver:	n/a	n/a
20	MXI1	chr10:733697-736581	IMR90	lung:	n/a	n/a
21	MYC	chr10:735399-735691	MCF-7	breast:	n/a	n/a
22	MYC	chr10:735446-735565	MCF-7	breast:	n/a	n/a
23	MYC	chr10:735533-735552	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr10:735364-735871	A549	lung:	n/a	n/a
25	NRF1	chr10:735318-736393	SK-N-SH	brain:	n/a	chr10:735524-735533
26	POLR2A	chr10:735385-735660	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr10:734644-735960	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr10:735943-736190	A549	lung:	n/a	n/a
29	POLR2A	chr10:735363-735849	A549	lung:	n/a	n/a
30	POLR2A	chr10:735353-735919	A549	lung:	n/a	n/a
31	POLR2A	chr10:735320-735766	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr10:735981-736139	A549	lung:	n/a	n/a
33	POLR2A	chr10:736009-736150	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr10:735961-736246	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr10:735380-735648	MCF-7	breast:	n/a	n/a
36	POLR2A	chr10:735324-736245	HEK293	kidney:	n/a	n/a
37	POLR2A	chr10:735314-735954	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr10:734010-736729	IMR90	lung:	n/a	n/a
39	POLR2A	chr10:735313-735821	MCF-7	breast:	n/a	n/a
40	POLR2A	chr10:736023-736172	MCF-7	breast:	n/a	n/a
41	POLR2A	chr10:735355-735919	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr10:735331-735777	Gliobla	brain:	n/a	n/a
43	POLR2A	chr10:735969-736275	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr10:735258-735854	MCF-7	breast:	n/a	n/a
45	POLR2A	chr10:735411-735623	HepG2	liver:	n/a	n/a
46	POLR2A	chr10:735364-735626	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr10:735356-735712	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr10:735378-735801	ProgFib	skin:	n/a	n/a
49	POLR2A	chr10:735402-735620	HepG2	liver:	n/a	n/a
50	POLR2A	chr10:735414-735882	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:735472-735522	HepG2	liver:	n/a
2	chr10:735472-735522	MCF10A-Er-Src	breast:	n/a
3	chr10:735472-735522	SKMC	muscle:	n/a
4	chr10:735472-735522	MCF-7	breast:	n/a
5	chr10:735472-735522	AoSMC	blood vessel:	n/a
6	chr10:735472-735522	Hela-S3	cervix:	n/a
7	chr10:735472-735522	A549	lung:	n/a
8	chr10:735472-735522	BJ	skin:	n/a
9	chr10:735472-735522	IMR90	lung:	fetal
10	chr10:735472-735522	LNCaP	prostate:	n/a
11	chr10:735472-735522	HNPCEpiC	eye:	n/a
12	chr10:735472-735522	NT2-D1	testis:	n/a
13	chr10:735472-735522	CMK	blood:	n/a
14	chr10:735472-735522	HCM	heart:	n/a
15	chr10:735472-735522	RPTEC	kidney:	n/a
16	chr10:735472-735522	SK-N-SH_RA	brain:	n/a
17	chr10:735472-735522	HEK293	kidney:	embryo
18	chr10:735472-735522	GM12878	blood:	n/a
19	chr10:735472-735522	PANC-1	pancreas:	n/a
20	chr10:735472-735522	HUVEC	blood vessel:	n/a
21	chr10:735472-735522	GM06990	blood:	n/a
22	chr10:735472-735522	ProgFib	skin:	n/a
23	chr10:735472-735522	H1-hESC	embryonic stem cell:	embryo
24	chr10:735472-735522	NHDF-neo	bronchial:	n/a
25	chr10:735472-735522	ECC-1	luminal epithelium:	n/a
26	chr10:735472-735522	PFSK-1	brain:	n/a
27	chr10:735472-735522	Hepatocyte	liver:	n/a
28	chr10:735472-735522	NH-A	brain:	n/a
29	chr10:735472-735522	AG04450	lung:	fetal
30	chr10:735472-735522	HRCEpiC	kidney:	n/a
31	chr10:735472-735522	HIPEpiC	eye:	n/a
32	chr10:735472-735522	HPAEpiC	pulmonary alveolar:	n/a
33	chr10:735472-735522	SK-N-MC	brain:	n/a
34	chr10:735472-735522	HRE	kidney:	n/a
35	chr10:735472-735522	HCT-116	colon:	n/a
36	chr10:735472-735522	GM12891	blood:	n/a
37	chr10:735472-735522	U87	brain:	n/a
38	chr10:735472-735522	GM12892	blood:	n/a
39	chr10:735472-735522	T-47D	breast:	n/a
40	chr10:735472-735522	BE2_C	brain:	n/a
41	chr10:735472-735522	HCF	heart:	n/a
42	chr10:735472-735522	SK-N-SH	brain:	n/a
43	chr10:735472-735522	Jurkat	blood:	n/a
44	chr10:735472-735522	K562	blood:	n/a
45	chr10:735472-735522	SAEC	small airway:	n/a
46	chr10:735472-735522	NHBE	bronchial:	n/a
47	chr10:735472-735522	AG09309	skin:	n/a
48	chr10:735472-735522	HL-60	blood:	n/a
49	chr10:735472-735522	HMEC	breast:	n/a
50	chr10:735472-735522	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:674481..678808-chr10:734028..737251,4	MCF-7	breast:
2	chr10:733710..735507-chr10:754476..756731,2	MCF-7	breast:
3	chr10:735855..737615-chr10:818949..821134,2	MCF-7	breast:

No data

Variant related genes	Relation type
DIP2C	TF binding region
DIP2C	CpG island
ENSG00000225140	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113981727	chr10:735350-735351	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142291358	chr10:735468-735469	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372847542	chr10:735510-735511	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181432514	chr10:735644-735645	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566669626	chr10:735647-735648	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538682493	chr10:735657-735658	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557622543	chr10:735871-735872	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545321901	chr10:735900-735901	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201331423	chr10:735904-735905	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376833268	chr10:735969-735970	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557904507	chr10:736017-736018	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs115762228	chr10:736024-736025	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:733600-736000	Active TSS	HSMMtube	muscle
2	chr10:733600-736200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:734000-735600	Active TSS	Hela-S3	cervix
4	chr10:734000-736200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:734000-736200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr10:734000-736200	Active TSS	A549	lung
7	chr10:734000-736400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr10:734000-736400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr10:734000-736600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr10:734200-736000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:734200-736200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:734200-736200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:734200-736200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:734200-736200	Active TSS	Brain Angular Gyrus	brain
15	chr10:734200-736200	Active TSS	Colon Smooth Muscle	Colon
16	chr10:734200-736200	Active TSS	Esophagus	oesophagus
17	chr10:734200-736200	Active TSS	Left Ventricle	heart
18	chr10:734200-736200	Active TSS	HSMM	muscle
19	chr10:734200-736200	Active TSS	NHLF	lung
20	chr10:734200-736600	Active TSS	Aorta	Aorta
21	chr10:734200-736600	Active TSS	Fetal Kidney	kidney
22	chr10:734400-736000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:734400-736000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:734400-736000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:734400-736000	Active TSS	Brain Substantia Nigra	brain
26	chr10:734400-736000	Active TSS	Fetal Intestine Small	intestine
27	chr10:734400-736000	Active TSS	Pancreas	Pancrea
28	chr10:734400-736000	Active TSS	HepG2	liver
29	chr10:734400-736000	Active TSS	HUVEC	blood vessel
30	chr10:734400-736000	Active TSS	NH-A	brain
31	chr10:734400-736000	Active TSS	NHDF-Ad	bronchial
32	chr10:734400-736200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:734400-736200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:734400-736200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:734400-736200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:734400-736200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr10:734400-736200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr10:734400-736200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:734400-736200	Active TSS	Liver	Liver
40	chr10:734400-736200	Active TSS	Brain Anterior Caudate	brain
41	chr10:734400-736200	Active TSS	Brain Cingulate Gyrus	brain
42	chr10:734400-736200	Active TSS	Brain Hippocampus Middle	brain
43	chr10:734400-736200	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr10:734400-736200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:734400-736200	Active TSS	Fetal Intestine Large	intestine
46	chr10:734400-736200	Active TSS	Fetal Lung	lung
47	chr10:734400-736200	Active TSS	Fetal Stomach	stomach
48	chr10:734400-736200	Active TSS	Lung	lung
49	chr10:734400-736200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr10:734400-736200	Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links