Variant report

Variant	nsv550237
Chromosome Location	chr10:27227681-27228876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 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	GM12864	blood:	n/a	n/a
3	CTCF	chr10:27228740-27228890	GM12866	blood:	n/a	n/a
4	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
5	CTCF	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
6	FOS	chr10:27227605-27227742	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr10:27227608-27227901	MCF10A-Er-Src	breast:	n/a	n/a
8	JUND	chr10:27228426-27228625	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr10:27227608-27227917	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr10:27228652-27228676	MCF-7	breast:	n/a	n/a
11	MYC	chr10:27228649-27228651	MCF-7	breast:	n/a	n/a
12	POLR2A	chr10:27228405-27228460	MCF-7	breast:	n/a	n/a
13	POLR2A	chr10:27228404-27228491	MCF-7	breast:	n/a	n/a
14	POLR2A	chr10:27228299-27228308	MCF-7	breast:	n/a	n/a
15	POLR2A	chr10:27228310-27228346	MCF-7	breast:	n/a	n/a
16	POLR2A	chr10:27228360-27228397	MCF-7	breast:	n/a	n/a
17	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: 64 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12572726	chr10:27227681-27227682	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74613665	chr10:27227687-27227688	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs34626341	chr10:27227689-27227690	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11015397	chr10:27227701-27227702	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73596334	chr10:27227722-27227723	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs77984663	chr10:27227744-27227745	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs75945577	chr10:27227761-27227762	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs75493900	chr10:27227762-27227763	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs79465906	chr10:27227770-27227771	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs76331947	chr10:27227771-27227772	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs78756348	chr10:27227772-27227773	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs56057299	chr10:27227776-27227777	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs76669276	chr10:27227777-27227778	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs76475873	chr10:27227781-27227782	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs80014713	chr10:27227804-27227805	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs79164569	chr10:27227823-27227824	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs547954414	chr10:27227836-27227837	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534039586	chr10:27227842-27227843	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs553563806	chr10:27227843-27227844	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs184399385	chr10:27227848-27227849	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs12572741	chr10:27227868-27227869	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556165620	chr10:27227870-27227871	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs576111771	chr10:27227907-27227908	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs190438808	chr10:27227908-27227909	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs534104913	chr10:27227943-27227944	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561611825	chr10:27227949-27227950	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs11015398	chr10:27227955-27227956	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574205815	chr10:27227964-27227965	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115002644	chr10:27228000-27228001	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560368518	chr10:27228088-27228089	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs532604763	chr10:27228091-27228092	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs552412631	chr10:27228146-27228147	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562501085	chr10:27228149-27228150	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs2488585	chr10:27228188-27228189	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs182265583	chr10:27228212-27228213	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369257729	chr10:27228246-27228247	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs141395485	chr10:27228256-27228257	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs547532314	chr10:27228262-27228263	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs570574777	chr10:27228277-27228278	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539470016	chr10:27228279-27228280	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs146983761	chr10:27228282-27228283	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs576099461	chr10:27228348-27228349	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs535493013	chr10:27228363-27228364	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs555283483	chr10:27228384-27228385	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs575111893	chr10:27228385-27228386	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs184377836	chr10:27228392-27228393	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs560710293	chr10:27228406-27228407	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	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
49	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
50	rs562688070	chr10:27228447-27228448	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	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:16 , 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	chr10:27220800-27235200	Weak transcription	Gastric	stomach
4	chr10:27226200-27228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle
6	chr10:27227400-27228000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:27227400-27228800	Active TSS	Fetal Muscle Trunk	muscle
8	chr10:27227800-27228400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr10:27227800-27228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:27227800-27229200	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr10:27228000-27229200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:27228200-27229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:27228200-27235200	Weak transcription	Right Atrium	heart
14	chr10:27228400-27230200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr10:27228600-27229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:27228800-27229200	Enhancers	Fetal Muscle Trunk	muscle

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