Variant report

Variant	esv3425038
Chromosome Location	chr2:86049591-86051539
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	CTCF	chr2:86051080-86051230	GM12871	blood:	n/a	n/a
2	CTCF	chr2:86051160-86051310	GM12864	blood:	n/a	n/a
3	POLR2A	chr2:86050120-86050146	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:86050076-86050106	MCF-7	breast:	n/a	n/a
5	SPI1	chr2:86050881-86051027	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATOH8-1	chr2:86051119-86052514	ENSG00000229498.1
2	lnc-ATOH8-1	chr2:86051119-86053911	NONHSAT072052

Variant related genes	Relation type
RN7SKP83	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545822020	chr2:86049592-86049593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564139292	chr2:86049631-86049632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7609014	chr2:86049656-86049657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs112601304	chr2:86049671-86049672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185425234	chr2:86049713-86049714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528656996	chr2:86049727-86049728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7609098	chr2:86049729-86049730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs190184610	chr2:86049731-86049732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7609429	chr2:86049774-86049775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs114980791	chr2:86049790-86049791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531907559	chr2:86049816-86049817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552248453	chr2:86049843-86049844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143428482	chr2:86049862-86049863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs137895932	chr2:86049890-86049891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537947599	chr2:86049926-86049927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556197735	chr2:86049931-86049932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568577123	chr2:86049939-86049940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142201834	chr2:86049962-86049963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554052048	chr2:86049963-86049964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183180071	chr2:86049982-86049983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572454591	chr2:86049987-86049988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546816902	chr2:86050003-86050004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79485885	chr2:86050045-86050046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146397416	chr2:86050084-86050085	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs557741155	chr2:86050085-86050086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs374689487	chr2:86050087-86050088	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs575984259	chr2:86050098-86050099	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs543529678	chr2:86050157-86050158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141970044	chr2:86050196-86050197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34482424	chr2:86050253-86050254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13012560	chr2:86050329-86050330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148006622	chr2:86050343-86050344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186960974	chr2:86050351-86050352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367568030	chr2:86050352-86050353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529350863	chr2:86050358-86050359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191598531	chr2:86050413-86050414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13012796	chr2:86050427-86050428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13012973	chr2:86050428-86050429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12989357	chr2:86050442-86050443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571425426	chr2:86050445-86050446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527625272	chr2:86050504-86050505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183902294	chr2:86050566-86050567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550533680	chr2:86050590-86050591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35504275	chr2:86050710-86050711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs531299801	chr2:86050712-86050713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187826620	chr2:86050720-86050721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191180972	chr2:86050721-86050722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374547811	chr2:86050747-86050748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535444147	chr2:86050758-86050759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535197148	chr2:86050759-86050760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86029800-86054400	Weak transcription	Spleen	Spleen
2	chr2:86039800-86074800	Weak transcription	Aorta	Aorta
3	chr2:86041400-86049600	Weak transcription	Lung	lung
4	chr2:86042200-86054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:86045600-86054400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:86049600-86049800	Enhancers	Lung	lung
7	chr2:86049800-86054800	Weak transcription	Lung	lung
8	chr2:86051000-86051200	Bivalent Enhancer	Placenta	Placenta
9	chr2:86051000-86051400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:86051200-86051400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:86051200-86051400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:86051400-86054400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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