Variant report

Variant	esv2753500
Chromosome Location	chr10:27221957-27231610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:27226988-27227113	A549	lung:	n/a	n/a
2	CHD1	chr10:27228380-27228580	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr10:27226080-27226230	GM12872	blood:	n/a	n/a
4	CTCF	chr10:27225900-27226050	GM12872	blood:	n/a	n/a
5	CTCF	chr10:27226069-27226163	MCF-7	breast:	n/a	n/a
6	CTCF	chr10:27230470-27230550	NHEK	skin:	n/a	n/a
7	CTCF	chr10:27226076-27226183	MCF-7	breast:	n/a	n/a
8	CTCF	chr10:27226020-27226170	GM12875	blood:	n/a	n/a
9	CTCF	chr10:27226099-27226179	GM12891	blood:	n/a	n/a
10	CTCF	chr10:27228220-27228370	GM12864	blood:	n/a	n/a
11	CTCF	chr10:27226080-27226230	GM12868	blood:	n/a	n/a
12	CTCF	chr10:27226065-27226184	MCF-7	breast:	n/a	n/a
13	CTCF	chr10:27230432-27230583	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
15	CTCF	chr10:27228740-27228890	GM12866	blood:	n/a	n/a
16	CTCF	chr10:27226060-27226210	GM12865	blood:	n/a	n/a
17	CTCF	chr10:27226074-27226177	GM12892	blood:	n/a	n/a
18	CTCF	chr10:27226098-27226178	GM12878	blood:	n/a	n/a
19	CTCF	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
20	FOS	chr10:27227608-27227901	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr10:27227605-27227742	MCF10A-Er-Src	breast:	n/a	n/a
22	JUND	chr10:27228426-27228625	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr10:27227608-27227917	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr10:27228652-27228676	MCF-7	breast:	n/a	n/a
25	MYC	chr10:27228649-27228651	MCF-7	breast:	n/a	n/a
26	POLR2A	chr10:27228360-27228397	MCF-7	breast:	n/a	n/a
27	POLR2A	chr10:27225824-27225948	MCF-7	breast:	n/a	n/a
28	POLR2A	chr10:27229002-27229004	Gliobla	brain:	n/a	n/a
29	POLR2A	chr10:27225813-27225818	MCF-7	breast:	n/a	n/a
30	POLR2A	chr10:27229042-27229103	Gliobla	brain:	n/a	n/a
31	POLR2A	chr10:27228404-27228491	MCF-7	breast:	n/a	n/a
32	POLR2A	chr10:27229019-27229028	Gliobla	brain:	n/a	n/a
33	POLR2A	chr10:27228310-27228346	MCF-7	breast:	n/a	n/a
34	POLR2A	chr10:27228405-27228460	MCF-7	breast:	n/a	n/a
35	POLR2A	chr10:27228299-27228308	MCF-7	breast:	n/a	n/a
36	POLR2A	chr10:27229031-27229041	Gliobla	brain:	n/a	n/a
37	POLR2A	chr10:27223263-27223396	GM12878	blood:	n/a	n/a
38	SPI1	chr10:27223257-27223609	GM12891	blood:	n/a	n/a
39	SPI1	chr10:27223253-27223543	GM12891	blood:	n/a	n/a
40	SPI1	chr10:27223361-27223496	GM12878	blood:	n/a	n/a
41	SPI1	chr10:27223305-27223540	GM12878	blood:	n/a	n/a
42	STAT3	chr10:27226975-27227232	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr10:27227594-27227794	MCF10A-Er-Src	breast:	n/a	n/a
44	ZNF384	chr10:27222798-27223069	K562	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:27230955-27231005	HAEpiC	amniotic membrane:	n/a
2	chr10:27230955-27231005	HAEpiC	amniotic membrane:	n/a
3	chr10:27230955-27231005	SK-N-SH_RA	brain:	n/a
4	chr10:27230955-27231005	NHBE	bronchial:	n/a
5	chr10:27231223-27231273	GM12878	blood:	n/a
6	chr10:27230738-27230788	H1-hESC	embryonic stem cell:	embryo
7	chr10:27230955-27231005	GM06990	blood:	n/a
8	chr10:27230955-27231005	AG04450	lung:	fetal
9	chr10:27230955-27231005	HRPEpiC	eye:	n/a
10	chr10:27231223-27231273	HRCEpiC	kidney:	n/a
11	chr10:27230738-27230788	HRCEpiC	kidney:	n/a
12	chr10:27230738-27230788	MCF-7	breast:	n/a
13	chr10:27230955-27231005	AoSMC	blood vessel:	n/a
14	chr10:27230738-27230788	SKMC	muscle:	n/a
15	chr10:27230955-27231005	Caco-2	colon:	n/a
16	chr10:27230738-27230788	NB4	blood:	n/a
17	chr10:27231223-27231273	GM12892	blood:	n/a
18	chr10:27230738-27230788	PANC-1	pancreas:	n/a
19	chr10:27231223-27231273	HCM	heart:	n/a
20	chr10:27230738-27230788	BE2_C	brain:	n/a
21	chr10:27231223-27231273	HCF	heart:	n/a
22	chr10:27230738-27230788	HepG2	liver:	n/a
23	chr10:27230738-27230788	AG10803	skin:	n/a
24	chr10:27231223-27231273	PrEC	prostate:	n/a
25	chr10:27230738-27230788	GM12891	blood:	n/a
26	chr10:27231223-27231273	T-47D	breast:	n/a
27	chr10:27230955-27231005	T-47D	breast:	n/a
28	chr10:27230955-27231005	Hepatocyte	liver:	n/a
29	chr10:27230955-27231005	CMK	blood:	n/a
30	chr10:27230738-27230788	HCPEpiC	choroid plexus:	n/a
31	chr10:27231223-27231273	ECC-1	luminal epithelium:	n/a
32	chr10:27231223-27231273	CMK	blood:	n/a
33	chr10:27230955-27231005	GM12878	blood:	n/a
34	chr10:27230738-27230788	SK-N-SH_RA	brain:	n/a
35	chr10:27230738-27230788	IMR90	lung:	fetal
36	chr10:27230955-27231005	NH-A	brain:	n/a
37	chr10:27230738-27230788	Jurkat	blood:	n/a
38	chr10:27230738-27230788	U87	brain:	n/a
39	chr10:27230955-27231005	H1-hESC	embryonic stem cell:	embryo
40	chr10:27231223-27231273	HAEpiC	amniotic membrane:	n/a
41	chr10:27231223-27231273	AG09309	skin:	n/a
42	chr10:27231223-27231273	ProgFib	skin:	n/a
43	chr10:27230955-27231005	IMR90	lung:	fetal
44	chr10:27230738-27230788	NT2-D1	testis:	n/a
45	chr10:27230955-27231005	ECC-1	luminal epithelium:	n/a
46	chr10:27231223-27231273	Hela-S3	cervix:	n/a
47	chr10:27230738-27230788	HRPEpiC	eye:	n/a
48	chr10:27230738-27230788	ECC-1	luminal epithelium:	n/a
49	chr10:27230955-27231005	HepG2	liver:	n/a
50	chr10:27230955-27231005	MCF10A-Er-Src	breast:	n/a

(count:1 , 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:

No data

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

Extended variants
information (count: 556 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2477935	chr10:27221957-27221958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs118123081	chr10:27221962-27221963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571893133	chr10:27221967-27221968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373691679	chr10:27222020-27222021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550926378	chr10:27222083-27222084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367693454	chr10:27222110-27222111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567871954	chr10:27222139-27222140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150551723	chr10:27222185-27222186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200030672	chr10:27222212-27222213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200807911	chr10:27222213-27222214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553503987	chr10:27222216-27222217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73596329	chr10:27222238-27222239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573236750	chr10:27222256-27222257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199534299	chr10:27222264-27222265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538701126	chr10:27222271-27222272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114363727	chr10:27222280-27222281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2488580	chr10:27222293-27222294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182245422	chr10:27222317-27222318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2488581	chr10:27222320-27222321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs186477398	chr10:27222335-27222336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78073063	chr10:27222387-27222388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76176037	chr10:27222392-27222393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574313997	chr10:27222414-27222415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12572977	chr10:27222453-27222454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147887907	chr10:27222493-27222494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531977390	chr10:27222497-27222498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145689896	chr10:27222514-27222515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565555434	chr10:27222527-27222528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542367625	chr10:27222551-27222552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531075528	chr10:27222555-27222556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2477936	chr10:27222570-27222571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567810790	chr10:27222585-27222586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531226617	chr10:27222589-27222590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143617661	chr10:27222595-27222596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368953072	chr10:27222596-27222597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536849980	chr10:27222623-27222624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72805431	chr10:27222625-27222626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75492977	chr10:27222632-27222633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192345197	chr10:27222633-27222634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72805433	chr10:27222641-27222642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575611738	chr10:27222687-27222688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537722563	chr10:27222701-27222702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112550125	chr10:27222706-27222707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549841083	chr10:27222709-27222710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111287275	chr10:27222711-27222712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563254948	chr10:27222714-27222715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111425827	chr10:27222717-27222718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554447501	chr10:27222771-27222772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115040280	chr10:27222778-27222779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540083154	chr10:27222794-27222795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27220200-27223200	Enhancers	Brain Germinal Matrix	brain
2	chr10:27220600-27228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:27220600-27234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:27220800-27222200	Weak transcription	Placenta	Placenta
5	chr10:27220800-27225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:27220800-27226400	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:27220800-27235200	Weak transcription	Gastric	stomach
8	chr10:27221600-27222400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:27222600-27222800	Enhancers	Placenta	Placenta
10	chr10:27225800-27226200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:27225800-27226600	Enhancers	Fetal Muscle Trunk	muscle
12	chr10:27226200-27228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:27226400-27226600	Enhancers	Fetal Muscle Leg	muscle
14	chr10:27226600-27227400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle
16	chr10:27227400-27228000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr10:27227400-27228800	Active TSS	Fetal Muscle Trunk	muscle
18	chr10:27227800-27228400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr10:27227800-27228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr10:27227800-27229200	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr10:27228000-27229200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:27228200-27229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:27228200-27235200	Weak transcription	Right Atrium	heart
24	chr10:27228400-27230200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr10:27228600-27229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:27228800-27229200	Enhancers	Fetal Muscle Trunk	muscle
27	chr10:27229000-27229200	Enhancers	Fetal Muscle Leg	muscle
28	chr10:27229000-27230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:27229200-27230000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr10:27229200-27239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:27230000-27230400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:27230000-27230400	Enhancers	Fetal Muscle Trunk	muscle
33	chr10:27230200-27230400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr10:27230200-27230600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:27230200-27230600	ZNF genes & repeats	Pancreas	Pancrea
36	chr10:27230200-27232000	Weak transcription	Spleen	Spleen
37	chr10:27230600-27235000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:27230600-27235000	Weak transcription	Pancreas	Pancrea

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