Variant report

Variant	nsv550239
Chromosome Location	chr10:27228341-27229238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr10:27228380-27228580	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
3	CTCF	chr10:27228220-27228370	GM12864	blood:	n/a	n/a
4	CTCF	chr10:27228740-27228890	GM12866	blood:	n/a	n/a
5	CTCF	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
6	JUND	chr10:27228426-27228625	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr10:27228649-27228651	MCF-7	breast:	n/a	n/a
8	MYC	chr10:27228652-27228676	MCF-7	breast:	n/a	n/a
9	POLR2A	chr10:27229042-27229103	Gliobla	brain:	n/a	n/a
10	POLR2A	chr10:27228310-27228346	MCF-7	breast:	n/a	n/a
11	POLR2A	chr10:27228405-27228460	MCF-7	breast:	n/a	n/a
12	POLR2A	chr10:27228360-27228397	MCF-7	breast:	n/a	n/a
13	POLR2A	chr10:27229002-27229004	Gliobla	brain:	n/a	n/a
14	POLR2A	chr10:27229031-27229041	Gliobla	brain:	n/a	n/a
15	POLR2A	chr10:27229019-27229028	Gliobla	brain:	n/a	n/a
16	POLR2A	chr10:27228404-27228491	MCF-7	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: 39 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576099461	chr10:27228348-27228349	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535493013	chr10:27228363-27228364	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555283483	chr10:27228384-27228385	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575111893	chr10:27228385-27228386	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184377836	chr10:27228392-27228393	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560710293	chr10:27228406-27228407	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12573020	chr10:27228421-27228422	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11015399	chr10:27228439-27228440	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs562688070	chr10:27228447-27228448	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs531575723	chr10:27228452-27228453	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs189107585	chr10:27228545-27228546	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs41279926	chr10:27228590-27228591	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12573785	chr10:27228607-27228608	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540014750	chr10:27228638-27228639	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs527550816	chr10:27228716-27228717	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542447164	chr10:27228723-27228724	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs181551358	chr10:27228724-27228725	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs78429664	chr10:27228785-27228786	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs185592391	chr10:27228788-27228789	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs115637167	chr10:27228790-27228791	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs138108754	chr10:27228812-27228813	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535427398	chr10:27228836-27228837	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs4749202	chr10:27228876-27228877	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs140003934	chr10:27228885-27228886	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200899312	chr10:27228893-27228894	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs41279928	chr10:27228898-27228899	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534459137	chr10:27228903-27228904	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191364557	chr10:27228944-27228945	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs11015400	chr10:27228946-27228947	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs787720	chr10:27229045-27229046	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs11015401	chr10:27229079-27229080	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4749203	chr10:27229083-27229084	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541939139	chr10:27229109-27229110	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs562066590	chr10:27229118-27229119	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs527693660	chr10:27229132-27229133	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs541310496	chr10:27229151-27229152	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs564271924	chr10:27229170-27229171	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs4749204	chr10:27229180-27229181	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs41307547	chr10:27229238-27229239	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27220600-27234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:27220800-27235200	Weak transcription	Gastric	stomach
3	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle
4	chr10:27227400-27228800	Active TSS	Fetal Muscle Trunk	muscle
5	chr10:27227800-27228400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr10:27227800-27228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr10:27227800-27229200	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr10:27228000-27229200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:27228200-27229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:27228200-27235200	Weak transcription	Right Atrium	heart
11	chr10:27228400-27230200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:27228600-27229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:27228800-27229200	Enhancers	Fetal Muscle Trunk	muscle
14	chr10:27229000-27229200	Enhancers	Fetal Muscle Leg	muscle
15	chr10:27229000-27230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:27229200-27230000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr10:27229200-27239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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