Variant report

Variant	nsv430141
Chromosome Location	chr10:27222320-27228439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 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	chr10:27226074-27226177	GM12892	blood:	n/a	n/a
4	CTCF	chr10:27226076-27226183	MCF-7	breast:	n/a	n/a
5	CTCF	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
6	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
7	CTCF	chr10:27226060-27226210	GM12865	blood:	n/a	n/a
8	CTCF	chr10:27226020-27226170	GM12875	blood:	n/a	n/a
9	CTCF	chr10:27225900-27226050	GM12872	blood:	n/a	n/a
10	CTCF	chr10:27226080-27226230	GM12868	blood:	n/a	n/a
11	CTCF	chr10:27228220-27228370	GM12864	blood:	n/a	n/a
12	CTCF	chr10:27226065-27226184	MCF-7	breast:	n/a	n/a
13	CTCF	chr10:27226098-27226178	GM12878	blood:	n/a	n/a
14	CTCF	chr10:27226080-27226230	GM12872	blood:	n/a	n/a
15	CTCF	chr10:27226099-27226179	GM12891	blood:	n/a	n/a
16	CTCF	chr10:27226069-27226163	MCF-7	breast:	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	chr10:27228426-27228625	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	chr10:27225813-27225818	MCF-7	breast:	n/a	n/a
22	POLR2A	chr10:27223263-27223396	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:27228360-27228397	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	POLR2A	chr10:27225824-27225948	MCF-7	breast:	n/a	n/a
27	POLR2A	chr10:27228310-27228346	MCF-7	breast:	n/a	n/a
28	POLR2A	chr10:27228405-27228460	MCF-7	breast:	n/a	n/a
29	SPI1	chr10:27223305-27223540	GM12878	blood:	n/a	n/a
30	SPI1	chr10:27223253-27223543	GM12891	blood:	n/a	n/a
31	SPI1	chr10:27223361-27223496	GM12878	blood:	n/a	n/a
32	SPI1	chr10:27223257-27223609	GM12891	blood:	n/a	n/a
33	STAT3	chr10:27226975-27227232	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr10:27227594-27227794	MCF10A-Er-Src	breast:	n/a	n/a
35	ZNF384	chr10:27222798-27223069	K562	blood:	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: 407 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2488581	chr10:27222320-27222321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186477398	chr10:27222335-27222336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78073063	chr10:27222387-27222388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76176037	chr10:27222392-27222393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574313997	chr10:27222414-27222415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12572977	chr10:27222453-27222454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147887907	chr10:27222493-27222494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531977390	chr10:27222497-27222498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145689896	chr10:27222514-27222515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565555434	chr10:27222527-27222528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542367625	chr10:27222551-27222552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531075528	chr10:27222555-27222556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2477936	chr10:27222570-27222571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567810790	chr10:27222585-27222586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531226617	chr10:27222589-27222590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143617661	chr10:27222595-27222596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368953072	chr10:27222596-27222597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536849980	chr10:27222623-27222624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72805431	chr10:27222625-27222626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75492977	chr10:27222632-27222633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192345197	chr10:27222633-27222634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72805433	chr10:27222641-27222642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575611738	chr10:27222687-27222688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537722563	chr10:27222701-27222702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112550125	chr10:27222706-27222707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549841083	chr10:27222709-27222710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111287275	chr10:27222711-27222712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563254948	chr10:27222714-27222715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111425827	chr10:27222717-27222718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554447501	chr10:27222771-27222772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115040280	chr10:27222778-27222779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540083154	chr10:27222794-27222795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2488582	chr10:27222799-27222800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs151287474	chr10:27222805-27222806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565736473	chr10:27222818-27222819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545897979	chr10:27222819-27222820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534529315	chr10:27222827-27222828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548320796	chr10:27222829-27222830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562314705	chr10:27222836-27222837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113049385	chr10:27222839-27222840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544535391	chr10:27222855-27222856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111256658	chr10:27222857-27222858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116717960	chr10:27222873-27222874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2477937	chr10:27222874-27222875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs368217522	chr10:27222881-27222882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566956701	chr10:27222884-27222885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532466748	chr10:27222910-27222911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552662765	chr10:27222911-27222912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569111673	chr10:27222914-27222915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201240403	chr10:27222930-27222931	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27220200-27223200	Enhancers	Brain Germinal Matrix	brain
2	chr10:27220600-27228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:27220600-27234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:27220800-27225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:27220800-27226400	Weak transcription	Fetal Muscle Leg	muscle
6	chr10:27220800-27235200	Weak transcription	Gastric	stomach
7	chr10:27221600-27222400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:27222600-27222800	Enhancers	Placenta	Placenta
9	chr10:27225800-27226200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:27225800-27226600	Enhancers	Fetal Muscle Trunk	muscle
11	chr10:27226200-27228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:27226400-27226600	Enhancers	Fetal Muscle Leg	muscle
13	chr10:27226600-27227400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle
15	chr10:27227400-27228000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr10:27227400-27228800	Active TSS	Fetal Muscle Trunk	muscle
17	chr10:27227800-27228400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr10:27227800-27228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr10:27227800-27229200	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr10:27228000-27229200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:27228200-27229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:27228200-27235200	Weak transcription	Right Atrium	heart
23	chr10:27228400-27230200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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