Variant report

Variant	esv3402458
Chromosome Location	chr2:96576376-96580405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr2:96577237-96577420	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr2:96577216-96577553	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr2:96576685-96576797	A549	lung:	n/a	n/a
4	CHD2	chr2:96577302-96577508	Hela-S3	cervix:	n/a	n/a
5	EP300	chr2:96577225-96577536	Hela-S3	cervix:	n/a	n/a
6	EP300	chr2:96577216-96577620	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr2:96577315-96577602	SK-N-SH_RA	brain:	n/a	n/a
8	FOS	chr2:96577161-96577695	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:96579030-96579244	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr2:96579028-96579391	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:96577169-96577526	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr2:96579034-96579235	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:96577082-96577544	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr2:96579028-96579244	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:96577185-96577670	HUVEC	blood vessel:	n/a	n/a
16	FOS	chr2:96577088-96577789	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr2:96577136-96577604	A549	lung:	n/a	n/a
18	FOSL2	chr2:96577169-96577501	SK-N-SH	brain:	n/a	n/a
19	GATA2	chr2:96577057-96577883	HUVEC	blood vessel:	n/a	n/a
20	GATA3	chr2:96577199-96577532	T-47D	breast:	n/a	n/a
21	GATA3	chr2:96577005-96577580	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr2:96577041-96577597	SK-N-SH	brain:	n/a	n/a
23	GTF2F1	chr2:96577357-96577481	Hela-S3	cervix:	n/a	n/a
24	JUN	chr2:96577166-96577637	HUVEC	blood vessel:	n/a	n/a
25	JUN	chr2:96577179-96577534	Hela-S3	cervix:	n/a	n/a
26	JUND	chr2:96577173-96577532	Hela-S3	cervix:	n/a	n/a
27	JUND	chr2:96577211-96577528	SK-N-SH	brain:	n/a	n/a
28	MAFK	chr2:96577182-96577511	Hela-S3	cervix:	n/a	n/a
29	MAFK	chr2:96577245-96577540	IMR90	lung:	n/a	n/a
30	MAX	chr2:96577270-96577432	Hela-S3	cervix:	n/a	n/a
31	MYC	chr2:96577217-96577529	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr2:96577276-96577536	MCF10A-Er-Src	breast:	n/a	n/a
33	NFIC	chr2:96577163-96577511	SK-N-SH	brain:	n/a	n/a
34	NFIC	chr2:96577204-96577538	SK-N-SH	brain:	n/a	n/a
35	PBX3	chr2:96577216-96577572	SK-N-SH	brain:	n/a	n/a
36	PBX3	chr2:96577175-96577661	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr2:96577033-96577725	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr2:96577210-96577493	U87	brain:	n/a	n/a
39	POLR2A	chr2:96577214-96577643	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr2:96579283-96579523	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:96577290-96577478	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr2:96577184-96577554	U87	brain:	n/a	n/a
43	POLR2A	chr2:96577154-96577681	SK-N-SH	brain:	n/a	n/a
44	RAD21	chr2:96577619-96577642	A549	lung:	n/a	n/a
45	RCOR1	chr2:96577238-96577560	Hela-S3	cervix:	n/a	n/a
46	RFX5	chr2:96577337-96577420	Hela-S3	cervix:	n/a	n/a
47	SP1	chr2:96577818-96577905	HepG2	liver:	n/a	n/a
48	SPI1	chr2:96579263-96579491	GM12878	blood:	n/a	n/a
49	SPI1	chr2:96579237-96579476	K562	blood:	n/a	n/a
50	SPI1	chr2:96579222-96579516	GM12891	blood:	n/a	n/a

No data

Variant related genes	Relation type
ANKRD36C	TF binding region

Extended variants
information (count: 235 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201845359	chr2:96576386-96576387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561594496	chr2:96576397-96576398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527504628	chr2:96576423-96576424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547140876	chr2:96576424-96576425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186681266	chr2:96576439-96576440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533046844	chr2:96576452-96576453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549952353	chr2:96576474-96576475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570013284	chr2:96576532-96576533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535611222	chr2:96576544-96576545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192388111	chr2:96576552-96576553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549474655	chr2:96576562-96576563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566152825	chr2:96576566-96576567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184618360	chr2:96576570-96576571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558343421	chr2:96576583-96576584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386648364	chr2:96576595-96576596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4907223	chr2:96576596-96576597	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs190301643	chr2:96576607-96576608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4907224	chr2:96576609-96576610	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs541432291	chr2:96576631-96576632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193302462	chr2:96576632-96576633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571764221	chr2:96576639-96576640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540866729	chr2:96576655-96576656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4907225	chr2:96576670-96576671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79947665	chr2:96576676-96576677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533087454	chr2:96576715-96576716	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs374935697	chr2:96576732-96576733	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs550035763	chr2:96576738-96576739	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563405413	chr2:96576782-96576783	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs529923537	chr2:96576783-96576784	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs184309725	chr2:96576786-96576787	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529312265	chr2:96576794-96576795	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs188982772	chr2:96576799-96576800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566187579	chr2:96576810-96576811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535114548	chr2:96576820-96576821	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181044365	chr2:96576858-96576859	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552052058	chr2:96576867-96576868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571853383	chr2:96576875-96576876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537213041	chr2:96576884-96576885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557656314	chr2:96576890-96576891	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530907268	chr2:96576903-96576904	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185550828	chr2:96576931-96576932	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535438735	chr2:96576971-96576972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554930332	chr2:96576972-96576973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189311986	chr2:96576988-96576989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369345122	chr2:96577034-96577035	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs180797387	chr2:96577036-96577037	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs367862395	chr2:96577053-96577054	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201654858	chr2:96577096-96577097	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs199619850	chr2:96577097-96577098	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs549093442	chr2:96577101-96577102	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	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
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
2	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
3	chr2:96536000-96576800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:96541000-96582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
7	chr2:96543800-96596200	Weak transcription	K562	blood
8	chr2:96545000-96576400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:96546000-96577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:96549800-96576400	Weak transcription	Thymus	Thymus
12	chr2:96549800-96576600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:96549800-96579600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:96549800-96580200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:96549800-96588600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:96549800-96590600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
18	chr2:96551800-96588600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
20	chr2:96554000-96580400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:96554200-96588600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:96556000-96576400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:96556000-96583800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:96556200-96576800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:96556200-96577400	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:96556200-96582000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:96556200-96582400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:96556200-96583000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:96556400-96576400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:96556400-96577200	Weak transcription	Primary T cells from cord blood	blood
32	chr2:96556400-96577600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:96556400-96578000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:96556400-96579800	Weak transcription	Fetal Brain Female	brain
35	chr2:96556400-96582200	Weak transcription	Primary B cells from cord blood	blood
36	chr2:96556400-96585000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
38	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:96556600-96583200	Weak transcription	Fetal Lung	lung
41	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:96558200-96580000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:96558200-96582000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:96558200-96583200	Weak transcription	Ovary	ovary
45	chr2:96558400-96583000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:96559600-96577200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:96560600-96577400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:96572000-96583200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:96573200-96584800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:96573600-96578200	Weak transcription	Brain Anterior Caudate	brain

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