Variant report

Variant	esv1840786
Chromosome Location	chr10:724941-735901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:333)
CpG islands
(count:1099)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:727897-728114	HepG2	liver:	n/a	n/a
2	ATF1	chr10:729319-729702	K562	blood:	n/a	n/a
3	BACH1	chr10:734911-735245	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr10:733032-733346	IMR90	lung:	n/a	n/a
5	CEBPB	chr10:735751-735902	HepG2	liver:	n/a	n/a
6	CEBPB	chr10:729197-729907	IMR90	lung:	n/a	n/a
7	CEBPB	chr10:732595-732615	HepG2	liver:	n/a	n/a
8	CEBPB	chr10:728114-728118	HepG2	liver:	n/a	n/a
9	CHD1	chr10:735773-736854	IMR90	lung:	n/a	n/a
10	CHD1	chr10:734854-734938	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr10:733010-735707	IMR90	lung:	n/a	chr10:735580-735590
12	CHD2	chr10:735536-735543	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr10:729206-729742	A549	lung:	n/a	chr10:729479-729492
14	CREB1	chr10:729257-729651	A549	lung:	n/a	chr10:729479-729492
15	CREB1	chr10:729305-729598	K562	blood:	n/a	chr10:729479-729492
16	CREB1	chr10:735449-735952	A549	lung:	n/a	n/a
17	CREB1	chr10:729267-729728	H1-hESC	embryonic stem cell:	n/a	chr10:729479-729492
18	CTCF	chr10:729540-729690	AG04450	lung:	n/a	n/a
19	CTCF	chr10:734340-734490	Caco-2	colon:	n/a	chr10:734372-734385
20	CTCF	chr10:734947-735044	MCF-7	breast:	n/a	chr10:734955-734968
21	CTCF	chr10:729600-729750	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr10:732502-732624	MCF-7	breast:	n/a	chr10:732549-732570
23	CTCF	chr10:729120-729270	AG10803	skin:	n/a	n/a
24	CTCF	chr10:729640-729790	AG09319	gingival:	n/a	n/a
25	CTCF	chr10:734800-734950	GM12871	blood:	n/a	n/a
26	CTCF	chr10:729620-729770	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr10:729740-729890	HFF	foreskin:	n/a	chr10:729807-729820
28	CTCF	chr10:729400-729550	SK-N-SH_RA	brain:	n/a	chr10:729486-729507
29	CTCF	chr10:732523-732568	GM19239	blood:	n/a	n/a
30	CTCF	chr10:732541-732549	K562	blood:	n/a	n/a
31	CTCF	chr10:729672-729727	A549	lung:	n/a	n/a
32	CTCF	chr10:729640-729790	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr10:729680-729830	NHDF-neo	bronchial:	n/a	chr10:729807-729820
34	CTCF	chr10:729640-729790	AG04450	lung:	n/a	n/a
35	CTCF	chr10:729620-729770	AG09309	skin:	n/a	n/a
36	CTCF	chr10:729700-729850	AoAF	blood vessel:	n/a	chr10:729807-729820
37	CTCF	chr10:729620-729770	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr10:729620-729770	AG04449	skin:	n/a	n/a
39	CTCF	chr10:734400-734550	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr10:734320-734470	HCPEpiC	choroid plexus:	n/a	chr10:734372-734385
41	CTCF	chr10:729800-729950	HA-sp	spinal cord:	n/a	chr10:729807-729820
42	CTCF	chr10:729600-729750	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr10:729420-729570	NHDF-neo	bronchial:	n/a	chr10:729486-729507
44	CTCF	chr10:729600-729750	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr10:734280-734430	MCF-7	breast:	n/a	chr10:734372-734385
46	CTCF	chr10:729640-729790	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr10:729600-729750	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr10:729640-729790	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr10:729680-729830	RPTEC	kidney:	n/a	chr10:729807-729820
50	CTCF	chr10:729620-729770	HRE	kidney:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:729204-729254	HRPEpiC	eye:	n/a
2	chr10:729204-729254	HRPEpiC	eye:	n/a
3	chr10:729226-729276	K562	blood:	n/a
4	chr10:729711-729761	GM06990	blood:	n/a
5	chr10:735472-735522	A549	lung:	n/a
6	chr10:726822-726872	BE2_C	brain:	n/a
7	chr10:729570-729620	HPAEpiC	pulmonary alveolar:	n/a
8	chr10:729570-729620	HIPEpiC	eye:	n/a
9	chr10:729259-729309	SKMC	muscle:	n/a
10	chr10:729916-729966	NB4	blood:	n/a
11	chr10:729479-729529	MCF10A-Er-Src	breast:	n/a
12	chr10:735041-735091	MCF10A-Er-Src	breast:	n/a
13	chr10:729479-729529	NHDF-neo	bronchial:	n/a
14	chr10:729846-729896	HNPCEpiC	eye:	n/a
15	chr10:729226-729276	AG04449	skin:	fetal
16	chr10:734399-734449	GM12892	blood:	n/a
17	chr10:734268-734318	T-47D	breast:	n/a
18	chr10:729570-729620	SK-N-SH_RA	brain:	n/a
19	chr10:729259-729309	U87	brain:	n/a
20	chr10:729204-729254	PFSK-1	brain:	n/a
21	chr10:731292-731342	SK-N-MC	brain:	n/a
22	chr10:726822-726872	PFSK-1	brain:	n/a
23	chr10:735472-735522	AG10803	skin:	n/a
24	chr10:726822-726872	HRCEpiC	kidney:	n/a
25	chr10:729570-729620	HCT-116	colon:	n/a
26	chr10:731292-731342	HCPEpiC	choroid plexus:	n/a
27	chr10:734268-734318	HPAEpiC	pulmonary alveolar:	n/a
28	chr10:725706-725756	T-47D	breast:	n/a
29	chr10:726822-726872	MCF10A-Er-Src	breast:	n/a
30	chr10:734710-734760	SAEC	small airway:	n/a
31	chr10:734710-734760	Hela-S3	cervix:	n/a
32	chr10:735041-735091	Hela-S3	cervix:	n/a
33	chr10:729001-729051	LNCaP	prostate:	n/a
34	chr10:729259-729309	GM12891	blood:	n/a
35	chr10:731292-731342	NB4	blood:	n/a
36	chr10:729204-729254	GM12891	blood:	n/a
37	chr10:731292-731342	A549	lung:	n/a
38	chr10:729001-729051	HRPEpiC	eye:	n/a
39	chr10:734710-734760	HepG2	liver:	n/a
40	chr10:726822-726872	HEK293	kidney:	embryo
41	chr10:734268-734318	GM06990	blood:	n/a
42	chr10:729711-729761	BE2_C	brain:	n/a
43	chr10:729711-729761	BJ	skin:	n/a
44	chr10:729711-729761	NHDF-neo	bronchial:	n/a
45	chr10:725706-725756	NHDF-neo	bronchial:	n/a
46	chr10:729001-729051	GM19239	blood:	n/a
47	chr10:734268-734318	HMEC	breast:	n/a
48	chr10:729001-729051	HEK293	kidney:	embryo
49	chr10:734710-734760	SK-N-SH_RA	brain:	n/a
50	chr10:729711-729761	HMEC	breast:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:735855..737615-chr10:818949..821134,2	MCF-7	breast:
2	chr10:712816..715288-chr10:723469..725023,2	MCF-7	breast:
3	chr10:723887..725590-chr10:731403..733656,2	MCF-7	breast:
4	chr10:725778..731472-chr10:731586..738263,11	MCF-7	breast:
5	chr10:705629..708619-chr10:732652..734638,2	MCF-7	breast:
6	chr10:674481..678808-chr10:734028..737251,4	MCF-7	breast:
7	chr10:723887..725590-chr10:731403..733656,2	MCF-7	breast:
8	chr10:733710..735507-chr10:754476..756731,2	MCF-7	breast:
9	chr10:717115..720273-chr10:724564..727281,3	MCF-7	breast:
10	chr10:721854..725155-chr10:733736..736400,3	MCF-7	breast:

No data

Variant related genes	Relation type
DIP2C	TF binding region
DIP2C	CpG island
ENSG00000272992	chromatin interactions
ENSG00000225140	chromatin interactions
ENSG00000151240	chromatin interactions

Extended variants
information (count: 495 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184185142	chr10:724947-724948	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188739014	chr10:724959-724960	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181155506	chr10:724964-724965	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537336204	chr10:724965-724966	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184482687	chr10:724973-724974	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76721983	chr10:724974-724975	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573861556	chr10:724976-724977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs189358716	chr10:724989-724990	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs180753601	chr10:724991-724992	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187462728	chr10:724992-724993	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189305929	chr10:724995-724996	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs181605136	chr10:724997-724998	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs371243269	chr10:725036-725037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374530967	chr10:725055-725056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368910133	chr10:725059-725060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371630367	chr10:725068-725069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186078482	chr10:725076-725077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532719343	chr10:725080-725081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552543575	chr10:725081-725082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550057758	chr10:725082-725083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201433762	chr10:725095-725096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201370780	chr10:725128-725129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111245371	chr10:725135-725136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190385519	chr10:725155-725156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75019689	chr10:725158-725159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566161925	chr10:725162-725163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537909545	chr10:725163-725164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548281666	chr10:725164-725165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115352643	chr10:725168-725169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115961763	chr10:725169-725170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551625524	chr10:725179-725180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183188968	chr10:725183-725184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374416521	chr10:725185-725186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367874257	chr10:725186-725187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117117682	chr10:725198-725199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111429469	chr10:725207-725208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113347638	chr10:725213-725214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116070273	chr10:725221-725222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116343006	chr10:725223-725224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149499148	chr10:725243-725244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376882643	chr10:725248-725249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369548358	chr10:725249-725250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564875880	chr10:725256-725257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568089648	chr10:725262-725263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574872205	chr10:725264-725265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186241339	chr10:725270-725271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375849312	chr10:725271-725272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112687155	chr10:725277-725278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552834590	chr10:725286-725287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573100032	chr10:725294-725295	Weak transcription Enhancers	n/a	n/a	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:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:712200-725600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:712800-726000	Weak transcription	Fetal Stomach	stomach
3	chr10:713400-728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:716200-725600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:716200-725800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:716400-725600	Weak transcription	Fetal Heart	heart
7	chr10:716400-726400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:716400-729200	Weak transcription	Fetal Lung	lung
9	chr10:716400-732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:716400-734200	Weak transcription	Fetal Kidney	kidney
11	chr10:718400-725600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:719600-725600	Weak transcription	Fetal Brain Male	brain
13	chr10:719800-725600	Weak transcription	Ovary	ovary
14	chr10:719800-725600	Weak transcription	Right Atrium	heart
15	chr10:719800-725800	Weak transcription	Adipose Nuclei	Adipose
16	chr10:719800-726000	Weak transcription	Brain Germinal Matrix	brain
17	chr10:722000-726000	Weak transcription	HSMM	muscle
18	chr10:722600-727200	Weak transcription	NHLF	lung
19	chr10:723000-725000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:723400-727400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:723600-727600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr10:723800-727400	Weak transcription	Osteobl	bone
23	chr10:724000-725000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:724000-725600	Weak transcription	Brain Angular Gyrus	brain
25	chr10:724000-725600	Weak transcription	HSMMtube	muscle
26	chr10:724000-726400	Weak transcription	NHDF-Ad	bronchial
27	chr10:724000-727200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:724000-727800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:724200-725600	Weak transcription	Psoas Muscle	Psoas
30	chr10:724200-725800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:724200-734000	Weak transcription	Colonic Mucosa	Colon
32	chr10:724400-725600	Weak transcription	Colon Smooth Muscle	Colon
33	chr10:724400-725600	Weak transcription	Fetal Muscle Leg	muscle
34	chr10:724400-726000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:724600-725400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:724600-725600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:724600-725600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr10:724600-725600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:724600-725600	Weak transcription	Brain Anterior Caudate	brain
40	chr10:724600-725600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr10:724600-725600	Weak transcription	Brain Hippocampus Middle	brain
42	chr10:724600-725600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:724600-725600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:724600-725600	Weak transcription	Brain Substantia Nigra	brain
45	chr10:724600-725600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr10:724600-725600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr10:724600-725600	Weak transcription	Left Ventricle	heart
48	chr10:724600-725600	Weak transcription	Pancreas	Pancrea
49	chr10:724600-725600	Weak transcription	Right Ventricle	heart
50	chr10:724600-725600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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