Variant report

Variant	esv2753825
Chromosome Location	chr10:27223642-27241780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:488)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:27239867-27240123	GM12878	blood:	n/a	n/a
2	BATF	chr10:27239863-27240179	GM12878	blood:	n/a	n/a
3	BATF	chr10:27241137-27241377	GM12878	blood:	n/a	n/a
4	BATF	chr10:27241130-27241326	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:27239855-27240184	GM12878	blood:	n/a	n/a
6	BHLHE40	chr10:27239962-27240121	GM12878	blood:	n/a	n/a
7	CEBPB	chr10:27226988-27227113	A549	lung:	n/a	n/a
8	CHD1	chr10:27228380-27228580	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr10:27226080-27226230	GM12872	blood:	n/a	n/a
10	CTCF	chr10:27241139-27241260	Gliobla	brain:	n/a	n/a
11	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
12	CTCF	chr10:27226020-27226170	GM12875	blood:	n/a	n/a
13	CTCF	chr10:27225900-27226050	GM12872	blood:	n/a	n/a
14	CTCF	chr10:27241138-27241223	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:27226060-27226210	GM12865	blood:	n/a	n/a
16	CTCF	chr10:27226076-27226183	MCF-7	breast:	n/a	n/a
17	CTCF	chr10:27226069-27226163	MCF-7	breast:	n/a	n/a
18	CTCF	chr10:27228220-27228370	GM12864	blood:	n/a	n/a
19	CTCF	chr10:27226099-27226179	GM12891	blood:	n/a	n/a
20	CTCF	chr10:27241129-27241231	MCF-7	breast:	n/a	n/a
21	CTCF	chr10:27241040-27241190	GM12873	blood:	n/a	n/a
22	CTCF	chr10:27228740-27228890	GM12866	blood:	n/a	n/a
23	CTCF	chr10:27232892-27233042	HepG2	liver:	n/a	n/a
24	CTCF	chr10:27226080-27226230	GM12868	blood:	n/a	n/a
25	CTCF	chr10:27230470-27230550	NHEK	skin:	n/a	n/a
26	CTCF	chr10:27230432-27230583	MCF-7	breast:	n/a	n/a
27	CTCF	chr10:27232950-27233007	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr10:27226074-27226177	GM12892	blood:	n/a	n/a
29	CTCF	chr10:27241040-27241190	MCF-7	breast:	n/a	n/a
30	CTCF	chr10:27241134-27241212	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr10:27241136-27241211	GM19239	blood:	n/a	n/a
32	CTCF	chr10:27241132-27241219	MCF-7	breast:	n/a	n/a
33	CTCF	chr10:27226098-27226178	GM12878	blood:	n/a	n/a
34	CTCF	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
35	CTCF	chr10:27226065-27226184	MCF-7	breast:	n/a	n/a
36	CTCF	chr10:27241126-27241241	MCF-7	breast:	n/a	n/a
37	EGR1	chr10:27232957-27233228	K562	blood:	n/a	n/a
38	EP300	chr10:27239956-27240156	GM12878	blood:	n/a	n/a
39	FOS	chr10:27227605-27227742	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr10:27227608-27227901	MCF10A-Er-Src	breast:	n/a	n/a
41	GATA3	chr10:27234942-27235259	MCF-7	breast:	n/a	n/a
42	GATA3	chr10:27234952-27235275	T-47D	breast:	n/a	n/a
43	IRF4	chr10:27239800-27240254	GM12878	blood:	n/a	n/a
44	JUND	chr10:27228426-27228625	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr10:27227608-27227917	H1-hESC	embryonic stem cell:	n/a	n/a
46	KAP1	chr10:27239554-27239796	K562	blood:	n/a	n/a
47	MAX	chr10:27235551-27235811	K562	blood:	n/a	n/a
48	MAX	chr10:27235246-27235700	K562	blood:	n/a	n/a
49	MXI1	chr10:27240011-27240177	GM12878	blood:	n/a	n/a
50	MYC	chr10:27228649-27228651	MCF-7	breast:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:27232252-27232302	CMK	blood:	n/a
2	chr10:27231223-27231273	SAEC	small airway:	n/a
3	chr10:27232252-27232302	ovcar-3	ovarian:	n/a
4	chr10:27230738-27230788	GM12892	blood:	n/a
5	chr10:27231223-27231273	MCF-7	breast:	n/a
6	chr10:27231223-27231273	BE2_C	brain:	n/a
7	chr10:27235627-27235677	HUVEC	blood vessel:	n/a
8	chr10:27231882-27231932	K562	blood:	n/a
9	chr10:27235598-27235648	NT2-D1	testis:	n/a
10	chr10:27231223-27231273	Jurkat	blood:	n/a
11	chr10:27235598-27235648	AG04450	lung:	fetal
12	chr10:27235627-27235677	LNCaP	prostate:	n/a
13	chr10:27230738-27230788	HNPCEpiC	eye:	n/a
14	chr10:27235598-27235648	AG04449	skin:	fetal
15	chr10:27231223-27231273	NH-A	brain:	n/a
16	chr10:27230738-27230788	ovcar-3	ovarian:	n/a
17	chr10:27235514-27235564	SK-N-MC	brain:	n/a
18	chr10:27231223-27231273	HIPEpiC	eye:	n/a
19	chr10:27230955-27231005	HEK293	kidney:	embryo
20	chr10:27231882-27231932	NHDF-neo	bronchial:	n/a
21	chr10:27235598-27235648	HUVEC	blood vessel:	n/a
22	chr10:27231882-27231932	IMR90	lung:	fetal
23	chr10:27230955-27231005	HUVEC	blood vessel:	n/a
24	chr10:27232252-27232302	H1-hESC	embryonic stem cell:	embryo
25	chr10:27232252-27232302	HCPEpiC	choroid plexus:	n/a
26	chr10:27231882-27231932	HMEC	breast:	n/a
27	chr10:27235598-27235648	AoSMC	blood vessel:	n/a
28	chr10:27232252-27232302	MCF10A-Er-Src	breast:	n/a
29	chr10:27231223-27231273	RPTEC	kidney:	n/a
30	chr10:27232252-27232302	GM12878	blood:	n/a
31	chr10:27230738-27230788	SAEC	small airway:	n/a
32	chr10:27235598-27235648	CMK	blood:	n/a
33	chr10:27235598-27235648	HRCEpiC	kidney:	n/a
34	chr10:27232252-27232302	SK-N-MC	brain:	n/a
35	chr10:27231223-27231273	T-47D	breast:	n/a
36	chr10:27231223-27231273	HNPCEpiC	eye:	n/a
37	chr10:27232252-27232302	NHDF-neo	bronchial:	n/a
38	chr10:27230738-27230788	SK-N-SH_RA	brain:	n/a
39	chr10:27235627-27235677	HCM	heart:	n/a
40	chr10:27231223-27231273	HRCEpiC	kidney:	n/a
41	chr10:27235514-27235564	HRPEpiC	eye:	n/a
42	chr10:27231223-27231273	CMK	blood:	n/a
43	chr10:27230955-27231005	T-47D	breast:	n/a
44	chr10:27235598-27235648	HEEpiC	esophagus:	n/a
45	chr10:27230738-27230788	K562	blood:	n/a
46	chr10:27230955-27231005	GM19239	blood:	n/a
47	chr10:27235514-27235564	MCF10A-Er-Src	breast:	n/a
48	chr10:27230955-27231005	GM06990	blood:	n/a
49	chr10:27231223-27231273	SK-N-SH_RA	brain:	n/a
50	chr10:27231882-27231932	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27228167..27230462-chr10:27233630..27235621,2	MCF-7	breast:
2	chr10:27228167..27230462-chr10:27233630..27235621,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00202-1	TF binding region
LINC00614	TF binding region
LINC00202-1	CpG island
LINC00614	CpG island

Extended variants
information (count: 967 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:967 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11015388	chr10:27223642-27223643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192960539	chr10:27223646-27223647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577356924	chr10:27223677-27223678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185227363	chr10:27223678-27223679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552112871	chr10:27223713-27223714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531658653	chr10:27223714-27223715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61848656	chr10:27223741-27223742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187233712	chr10:27223775-27223776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527685235	chr10:27223862-27223863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191683524	chr10:27223975-27223976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570775039	chr10:27223979-27223980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539237485	chr10:27224015-27224016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549983809	chr10:27224072-27224073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569769099	chr10:27224087-27224088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535515292	chr10:27224130-27224131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555506478	chr10:27224138-27224139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183784181	chr10:27224152-27224153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188127113	chr10:27224154-27224155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554147006	chr10:27224157-27224158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180849940	chr10:27224165-27224166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546193668	chr10:27224166-27224167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563070139	chr10:27224170-27224171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185736953	chr10:27224178-27224179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375847043	chr10:27224180-27224181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61848657	chr10:27224205-27224206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73596332	chr10:27224221-27224222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148335064	chr10:27224222-27224223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569243824	chr10:27224228-27224229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561883544	chr10:27224231-27224232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199718688	chr10:27224233-27224234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200355340	chr10:27224234-27224235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73596333	chr10:27224301-27224302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7902050	chr10:27224460-27224461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181851934	chr10:27224477-27224478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11015389	chr10:27224478-27224479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549831668	chr10:27224490-27224491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569786059	chr10:27224491-27224492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11015390	chr10:27224492-27224493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112468250	chr10:27224498-27224499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377751849	chr10:27224547-27224548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2448101	chr10:27224582-27224583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs17530946	chr10:27224599-27224600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386742194	chr10:27224602-27224603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17559620	chr10:27224604-27224605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145834080	chr10:27224618-27224619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111586203	chr10:27224626-27224627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113158912	chr10:27224627-27224628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576217809	chr10:27224748-27224749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185720025	chr10:27224757-27224758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7100739	chr10:27224761-27224762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27220600-27228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:27220600-27234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:27220800-27225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:27220800-27226400	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:27220800-27235200	Weak transcription	Gastric	stomach
6	chr10:27225800-27226200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:27225800-27226600	Enhancers	Fetal Muscle Trunk	muscle
8	chr10:27226200-27228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:27226400-27226600	Enhancers	Fetal Muscle Leg	muscle
10	chr10:27226600-27227400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle
12	chr10:27227400-27228000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:27227400-27228800	Active TSS	Fetal Muscle Trunk	muscle
14	chr10:27227800-27228400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr10:27227800-27228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:27227800-27229200	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr10:27228000-27229200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:27228200-27229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:27228200-27235200	Weak transcription	Right Atrium	heart
20	chr10:27228400-27230200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr10:27228600-27229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:27228800-27229200	Enhancers	Fetal Muscle Trunk	muscle
23	chr10:27229000-27229200	Enhancers	Fetal Muscle Leg	muscle
24	chr10:27229000-27230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:27229200-27230000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:27229200-27239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:27230000-27230400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:27230000-27230400	Enhancers	Fetal Muscle Trunk	muscle
29	chr10:27230200-27230400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr10:27230200-27230600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:27230200-27230600	ZNF genes & repeats	Pancreas	Pancrea
32	chr10:27230200-27232000	Weak transcription	Spleen	Spleen
33	chr10:27230600-27235000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:27230600-27235000	Weak transcription	Pancreas	Pancrea
35	chr10:27233000-27233400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:27234200-27234400	Enhancers	NHEK	skin
37	chr10:27234200-27235600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:27234400-27235600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr10:27234400-27235800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:27234400-27236000	Flanking Active TSS	NHEK	skin
41	chr10:27234800-27235800	Enhancers	HMEC	breast
42	chr10:27235000-27235200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr10:27235000-27235200	Enhancers	Esophagus	oesophagus
44	chr10:27235000-27235200	Active TSS	Fetal Brain Female	brain
45	chr10:27235000-27235200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
46	chr10:27235000-27235600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:27235000-27235600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:27235000-27235600	Active TSS	Brain Anterior Caudate	brain
49	chr10:27235000-27235600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr10:27235000-27235600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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