Variant report

Variant	nsv550236
Chromosome Location	chr10:27227168-27228421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
3	CTCF	chr10:27228220-27228370	GM12864	blood:	n/a	n/a
4	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
5	FOS	chr10:27227605-27227742	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr10:27227608-27227901	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr10:27227608-27227917	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr10:27228405-27228460	MCF-7	breast:	n/a	n/a
9	POLR2A	chr10:27228310-27228346	MCF-7	breast:	n/a	n/a
10	POLR2A	chr10:27228404-27228491	MCF-7	breast:	n/a	n/a
11	POLR2A	chr10:27228360-27228397	MCF-7	breast:	n/a	n/a
12	POLR2A	chr10:27228299-27228308	MCF-7	breast:	n/a	n/a
13	STAT3	chr10:27227594-27227794	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr10:27226975-27227232	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27228167..27230462-chr10:27233630..27235621,2	MCF-7	breast:

Variant related genes	Relation type
LINC00202-1	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3928123	chr10:27227168-27227169	Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78201408	chr10:27227172-27227173	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201071084	chr10:27227182-27227183	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561423293	chr10:27227185-27227186	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs74799057	chr10:27227187-27227188	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs76514761	chr10:27227195-27227196	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs76746934	chr10:27227226-27227227	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs76896925	chr10:27227236-27227237	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75875622	chr10:27227247-27227248	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs79154202	chr10:27227249-27227250	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs75491166	chr10:27227251-27227252	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76163545	chr10:27227260-27227261	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs79670152	chr10:27227270-27227271	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78755298	chr10:27227286-27227287	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs76566769	chr10:27227311-27227312	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76051237	chr10:27227327-27227328	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs76483858	chr10:27227351-27227352	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs76967510	chr10:27227375-27227376	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546771710	chr10:27227376-27227377	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560685907	chr10:27227381-27227382	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs79238920	chr10:27227427-27227428	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79590644	chr10:27227430-27227431	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77168435	chr10:27227435-27227436	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs74381045	chr10:27227458-27227459	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77679945	chr10:27227459-27227460	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550319202	chr10:27227467-27227468	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532381994	chr10:27227472-27227473	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374854473	chr10:27227480-27227481	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74403756	chr10:27227506-27227507	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs374661460	chr10:27227520-27227521	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs74126892	chr10:27227549-27227550	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76491531	chr10:27227572-27227573	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs74835671	chr10:27227579-27227580	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs529300009	chr10:27227586-27227587	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs76047898	chr10:27227587-27227588	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs77719456	chr10:27227590-27227591	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs77398971	chr10:27227596-27227597	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs75187707	chr10:27227619-27227620	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs76209822	chr10:27227639-27227640	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs74800390	chr10:27227644-27227645	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs374695648	chr10:27227674-27227675	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs12572726	chr10:27227681-27227682	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs74613665	chr10:27227687-27227688	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs34626341	chr10:27227689-27227690	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs11015397	chr10:27227701-27227702	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs73596334	chr10:27227722-27227723	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs77984663	chr10:27227744-27227745	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs75945577	chr10:27227761-27227762	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs75493900	chr10:27227762-27227763	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs79465906	chr10:27227770-27227771	Enhancers Weak transcription 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:15 , 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	chr10:27226600-27227400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle
7	chr10:27227400-27228000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr10:27227400-27228800	Active TSS	Fetal Muscle Trunk	muscle
9	chr10:27227800-27228400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr10:27227800-27228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr10:27227800-27229200	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr10:27228000-27229200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr10:27228200-27229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:27228200-27235200	Weak transcription	Right Atrium	heart
15	chr10:27228400-27230200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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