Variant report

Variant	esv1796784
Chromosome Location	chr10:27225991-27228473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 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	chr10:27226098-27226178	GM12878	blood:	n/a	n/a
4	CTCF	chr10:27225900-27226050	GM12872	blood:	n/a	n/a
5	CTCF	chr10:27226076-27226183	MCF-7	breast:	n/a	n/a
6	CTCF	chr10:27226080-27226230	GM12868	blood:	n/a	n/a
7	CTCF	chr10:27226069-27226163	MCF-7	breast:	n/a	n/a
8	CTCF	chr10:27228220-27228370	GM12864	blood:	n/a	n/a
9	CTCF	chr10:27226074-27226177	GM12892	blood:	n/a	n/a
10	CTCF	chr10:27226065-27226184	MCF-7	breast:	n/a	n/a
11	CTCF	chr10:27226099-27226179	GM12891	blood:	n/a	n/a
12	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
13	CTCF	chr10:27226080-27226230	GM12872	blood:	n/a	n/a
14	CTCF	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
15	CTCF	chr10:27226060-27226210	GM12865	blood:	n/a	n/a
16	CTCF	chr10:27226020-27226170	GM12875	blood:	n/a	n/a
17	FOS	chr10:27227608-27227901	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr10:27227605-27227742	MCF10A-Er-Src	breast:	n/a	n/a
19	JUND	chr10:27227608-27227917	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr10:27228426-27228625	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:27228310-27228346	MCF-7	breast:	n/a	n/a
22	POLR2A	chr10:27228360-27228397	MCF-7	breast:	n/a	n/a
23	POLR2A	chr10:27228405-27228460	MCF-7	breast:	n/a	n/a
24	POLR2A	chr10:27228404-27228491	MCF-7	breast:	n/a	n/a
25	POLR2A	chr10:27228299-27228308	MCF-7	breast:	n/a	n/a
26	STAT3	chr10:27226975-27227232	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr10:27227594-27227794	MCF10A-Er-Src	breast:	n/a	n/a

No data

(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

Extended variants
information (count: 172 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4749199	chr10:27225991-27225992	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546218701	chr10:27225993-27225994	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs183112158	chr10:27225998-27225999	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs113860286	chr10:27226005-27226006	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144413217	chr10:27226083-27226084	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571708775	chr10:27226102-27226103	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187355202	chr10:27226117-27226118	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540906853	chr10:27226119-27226120	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs11015395	chr10:27226142-27226143	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs572818673	chr10:27226143-27226144	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs146593205	chr10:27226160-27226161	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs536630997	chr10:27226161-27226162	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs553056207	chr10:27226171-27226172	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544770330	chr10:27226172-27226173	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs373709453	chr10:27226182-27226183	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558826043	chr10:27226237-27226238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575089363	chr10:27226268-27226269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561450478	chr10:27226302-27226303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4749200	chr10:27226305-27226306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555612969	chr10:27226354-27226355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140313605	chr10:27226361-27226362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141545333	chr10:27226381-27226382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386742195	chr10:27226382-27226383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191813192	chr10:27226383-27226384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11015396	chr10:27226407-27226408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs532142369	chr10:27226430-27226431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545366989	chr10:27226431-27226432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184313089	chr10:27226445-27226446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188247187	chr10:27226466-27226467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551228515	chr10:27226482-27226483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77564328	chr10:27226489-27226490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76470502	chr10:27226491-27226492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567873500	chr10:27226496-27226497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144037721	chr10:27226502-27226503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547076456	chr10:27226561-27226562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115947810	chr10:27226568-27226569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4749201	chr10:27226569-27226570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs201296437	chr10:27226606-27226607	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558571149	chr10:27226614-27226615	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527673311	chr10:27226618-27226619	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs111493396	chr10:27226655-27226656	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376435002	chr10:27226684-27226685	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs367839768	chr10:27226715-27226716	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374221320	chr10:27226758-27226759	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs368120198	chr10:27226759-27226760	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs374123423	chr10:27226761-27226762	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs74952543	chr10:27226787-27226788	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144911934	chr10:27226794-27226795	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs78027614	chr10:27226804-27226805	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371364271	chr10:27226843-27226844	Weak transcription Active TSS	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:19 , 50 per page) page: 1

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	chr10:27220800-27226400	Weak transcription	Fetal Muscle Leg	muscle
4	chr10:27220800-27235200	Weak transcription	Gastric	stomach
5	chr10:27225800-27226200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:27225800-27226600	Enhancers	Fetal Muscle Trunk	muscle
7	chr10:27226200-27228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:27226400-27226600	Enhancers	Fetal Muscle Leg	muscle
9	chr10:27226600-27227400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle
11	chr10:27227400-27228000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:27227400-27228800	Active TSS	Fetal Muscle Trunk	muscle
13	chr10:27227800-27228400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr10:27227800-27228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:27227800-27229200	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr10:27228000-27229200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:27228200-27229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:27228200-27235200	Weak transcription	Right Atrium	heart
19	chr10:27228400-27230200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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