Variant report

Variant	esv2750887
Chromosome Location	chr10:27225647-27228439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 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	GM12868	blood:	n/a	n/a
4	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
5	CTCF	chr10:27226099-27226179	GM12891	blood:	n/a	n/a
6	CTCF	chr10:27226076-27226183	MCF-7	breast:	n/a	n/a
7	CTCF	chr10:27226098-27226178	GM12878	blood:	n/a	n/a
8	CTCF	chr10:27225900-27226050	GM12872	blood:	n/a	n/a
9	CTCF	chr10:27226065-27226184	MCF-7	breast:	n/a	n/a
10	CTCF	chr10:27228220-27228370	GM12864	blood:	n/a	n/a
11	CTCF	chr10:27226060-27226210	GM12865	blood:	n/a	n/a
12	CTCF	chr10:27226080-27226230	GM12872	blood:	n/a	n/a
13	CTCF	chr10:27226074-27226177	GM12892	blood:	n/a	n/a
14	CTCF	chr10:27226020-27226170	GM12875	blood:	n/a	n/a
15	CTCF	chr10:27226069-27226163	MCF-7	breast:	n/a	n/a
16	CTCF	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
17	FOS	chr10:27227605-27227742	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr10:27227608-27227901	MCF10A-Er-Src	breast:	n/a	n/a
19	JUND	chr10:27228426-27228625	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr10:27227608-27227917	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:27228299-27228308	MCF-7	breast:	n/a	n/a
22	POLR2A	chr10:27228404-27228491	MCF-7	breast:	n/a	n/a
23	POLR2A	chr10:27225813-27225818	MCF-7	breast:	n/a	n/a
24	POLR2A	chr10:27228360-27228397	MCF-7	breast:	n/a	n/a
25	POLR2A	chr10:27228310-27228346	MCF-7	breast:	n/a	n/a
26	POLR2A	chr10:27225824-27225948	MCF-7	breast:	n/a	n/a
27	POLR2A	chr10:27228405-27228460	MCF-7	breast:	n/a	n/a
28	STAT3	chr10:27227594-27227794	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr10:27226975-27227232	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: 196 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs11015394	chr10:27225647-27225648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544901050	chr10:27225655-27225656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200698591	chr10:27225673-27225674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530627825	chr10:27225689-27225690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34416280	chr10:27225706-27225707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550286518	chr10:27225710-27225711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560503126	chr10:27225711-27225712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529652998	chr10:27225723-27225724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549257009	chr10:27225750-27225751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182750878	chr10:27225752-27225753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188919266	chr10:27225759-27225760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367922841	chr10:27225762-27225763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2488584	chr10:27225780-27225781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150911131	chr10:27225786-27225787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192149092	chr10:27225809-27225810	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs41279924	chr10:27225812-27225813	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566833009	chr10:27225842-27225843	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs536688596	chr10:27225847-27225848	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12220671	chr10:27225861-27225862	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12218581	chr10:27225881-27225882	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545305641	chr10:27225889-27225890	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564904506	chr10:27225893-27225894	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs12219637	chr10:27225904-27225905	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74126891	chr10:27225955-27225956	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560691451	chr10:27225967-27225968	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376583884	chr10:27225980-27225981	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs4749199	chr10:27225991-27225992	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs546218701	chr10:27225993-27225994	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs183112158	chr10:27225998-27225999	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs113860286	chr10:27226005-27226006	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs144413217	chr10:27226083-27226084	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571708775	chr10:27226102-27226103	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187355202	chr10:27226117-27226118	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs540906853	chr10:27226119-27226120	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs11015395	chr10:27226142-27226143	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs572818673	chr10:27226143-27226144	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs146593205	chr10:27226160-27226161	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs536630997	chr10:27226161-27226162	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs553056207	chr10:27226171-27226172	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs544770330	chr10:27226172-27226173	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs373709453	chr10:27226182-27226183	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558826043	chr10:27226237-27226238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575089363	chr10:27226268-27226269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561450478	chr10:27226302-27226303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4749200	chr10:27226305-27226306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555612969	chr10:27226354-27226355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140313605	chr10:27226361-27226362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141545333	chr10:27226381-27226382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386742195	chr10:27226382-27226383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191813192	chr10:27226383-27226384	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:20 , 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	chr10:27220800-27225800	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

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