Variant report

Variant	rs576330486
Chromosome Location	chr16:80603528-80603529
allele	C/T
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	FOSL2	chr16:80603153-80603855	SK-N-SH	brain:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
2	FOS	chr16:80603214-80604220	HUVEC	blood vessel:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
3	MTA3	chr16:80603440-80604065	GM12878	blood:	n/a	n/a
4	JUND	chr16:80603261-80603776	Hela-S3	cervix:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
5	YY1	chr16:80603493-80603873	GM12892	blood:	n/a	n/a
6	STAT5A	chr16:80603401-80604030	GM12878	blood:	n/a	chr16:80603691-80603700 chr16:80603664-80603676 chr16:80603692-80603701
7	JUND	chr16:80603244-80603852	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
8	POU2F2	chr16:80603434-80603989	GM12891	blood:	n/a	n/a
9	RUNX3	chr16:80603422-80604379	GM12878	blood:	n/a	n/a
10	BCL3	chr16:80603492-80603890	GM12878	blood:	n/a	chr16:80603692-80603701 chr16:80603691-80603700
11	POLR2A	chr16:80603191-80604331	GM12892	blood:	n/a	n/a
12	POLR2A	chr16:80603255-80604047	GM12892	blood:	n/a	n/a
13	KAP1	chr16:80603229-80604333	U2OS	brain:	n/a	n/a
14	BCLAF1	chr16:80603423-80604031	GM12878	blood:	n/a	chr16:80603692-80603701 chr16:80603691-80603700
15	EBF1	chr16:80603466-80603896	GM12878	blood:	n/a	n/a
16	KAP1	chr16:80603210-80604283	HEK293	kidney:	n/a	n/a
17	NFATC1	chr16:80603514-80603932	GM12878	blood:	n/a	n/a
18	JUN	chr16:80603297-80603854	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
19	ELF1	chr16:80603285-80603584	GM12878	blood:	n/a	n/a
20	FOS	chr16:80603279-80603882	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
21	NFIC	chr16:80603361-80604227	GM12878	blood:	n/a	n/a
22	POU2F2	chr16:80603385-80603871	GM12891	blood:	n/a	n/a
23	RUNX3	chr16:80603357-80604451	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:80603296-80604015	GM12892	blood:	n/a	n/a
25	YY1	chr16:80603378-80603888	GM12891	blood:	n/a	n/a
26	FOS	chr16:80603400-80603847	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
27	POLR2A	chr16:80603439-80603947	GM12891	blood:	n/a	n/a
28	POLR2A	chr16:80603324-80603954	GM12891	blood:	n/a	n/a
29	FOSL2	chr16:80603232-80603878	MCF-7	breast:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
30	ATF2	chr16:80603410-80603973	GM12878	blood:	n/a	n/a
31	POLR2A	chr16:80603517-80603569	HUVEC	blood vessel:	n/a	n/a
32	PML	chr16:80603333-80604265	GM12878	blood:	n/a	n/a
33	POLR2A	chr16:80603234-80603932	U87	brain:	n/a	n/a
34	FOSL2	chr16:80603269-80603559	HepG2	liver:	n/a	n/a
35	POLR2A	chr16:80603439-80603932	U87	brain:	n/a	n/a
36	RCOR1	chr16:80603294-80603894	K562	blood:	n/a	n/a
37	GATA2	chr16:80603312-80603842	HUVEC	blood vessel:	n/a	n/a
38	FOXM1	chr16:80603417-80604099	GM12878	blood:	n/a	n/a
39	RAD21	chr16:80603473-80603834	GM12878	blood:	n/a	n/a
40	RCOR1	chr16:80603359-80603559	Hela-S3	cervix:	n/a	n/a
41	MTA3	chr16:80603281-80604361	GM12878	blood:	n/a	n/a
42	FOXM1	chr16:80603340-80603978	GM12878	blood:	n/a	n/a
43	FOSL1	chr16:80603526-80603816	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
44	POLR2A	chr16:80603370-80603962	GM12891	blood:	n/a	n/a
45	STAT5A	chr16:80603449-80603879	GM12878	blood:	n/a	chr16:80603691-80603700 chr16:80603664-80603676 chr16:80603692-80603701
46	FOS	chr16:80603256-80603881	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
47	FOSL1	chr16:80603480-80603817	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
48	JUN	chr16:80603090-80604311	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
49	FOS	chr16:80603330-80603881	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
50	STAT3	chr16:80603490-80603830	MCF10A-Er-Src	breast:	n/a	chr16:80603691-80603700 chr16:80603664-80603676 chr16:80603692-80603701

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80595839..80600096-chr16:80600224..80603898,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL2-2	chr16:80602713-80603584	ENSG00000250904
2	lnc-CDYL2-2	chr16:80603122-80603581	XLOC_012020
3	lnc-CDYL2-2	chr16:80603122-80603566	NONHSAT143893
4	lnc-CDYL2-2	chr16:80603122-80603566	NONHSAT143899

Variant related genes	Relation type
ENSG00000260737	TF binding region
ENSG00000259867	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	esv3451426	chr16:80601651-80603649	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3327294	chr16:80603476-80606024	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80599000-80607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:80602600-80604400	Enhancers	Fetal Intestine Small	intestine
3	chr16:80602800-80604200	Enhancers	HUVEC	blood vessel
4	chr16:80602800-80604400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr16:80602800-80604400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:80602800-80604400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr16:80602800-80604400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:80602800-80604400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr16:80602800-80604400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:80602800-80604400	Enhancers	Fetal Intestine Large	intestine
11	chr16:80602800-80604400	Enhancers	NH-A	brain
12	chr16:80602800-80604400	Enhancers	NHEK	skin
13	chr16:80603000-80603600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr16:80603000-80603800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:80603000-80604000	Enhancers	HSMM	muscle
16	chr16:80603000-80604200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr16:80603000-80604200	Enhancers	Duodenum Mucosa	Duodenum
18	chr16:80603000-80604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:80603000-80604400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr16:80603000-80604400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:80603000-80604400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr16:80603000-80604400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:80603000-80604400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr16:80603000-80604400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:80603000-80604400	Enhancers	Liver	Liver
26	chr16:80603000-80604400	Enhancers	Small Intestine	intestine
27	chr16:80603000-80604400	Enhancers	NHLF	lung
28	chr16:80603200-80603800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr16:80603200-80603800	Enhancers	Spleen	Spleen
30	chr16:80603200-80604200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:80603200-80604400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr16:80603200-80604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:80603200-80604400	Enhancers	Esophagus	oesophagus
34	chr16:80603200-80604400	Enhancers	Gastric	stomach
35	chr16:80603200-80604400	Enhancers	GM12878-XiMat	blood
36	chr16:80603400-80603600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:80603400-80603800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:80603400-80603800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:80603400-80603800	Flanking Active TSS	Osteobl	bone
40	chr16:80603400-80604000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:80603400-80604000	Enhancers	Hela-S3	cervix
42	chr16:80603400-80604200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:80603400-80604400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:80603400-80604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:80603400-80604400	Enhancers	Lung	lung
46	chr16:80603400-80604400	Enhancers	HSMMtube	muscle

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