Variant report

Variant	rs185227675
Chromosome Location	chr16:80603925-80603926
allele	A/C
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	FOS	chr16:80603214-80604220	HUVEC	blood vessel:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
2	MTA3	chr16:80603440-80604065	GM12878	blood:	n/a	n/a
3	STAT5A	chr16:80603401-80604030	GM12878	blood:	n/a	chr16:80603691-80603700 chr16:80603664-80603676 chr16:80603692-80603701
4	TCF7L2	chr16:80603889-80604368	HEK293	kidney:	n/a	chr16:80604325-80604341 chr16:80604325-80604341 chr16:80604326-80604340
5	POU2F2	chr16:80603434-80603989	GM12891	blood:	n/a	n/a
6	RUNX3	chr16:80603422-80604379	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:80603191-80604331	GM12892	blood:	n/a	n/a
8	POLR2A	chr16:80603255-80604047	GM12892	blood:	n/a	n/a
9	KAP1	chr16:80603229-80604333	U2OS	brain:	n/a	n/a
10	BCLAF1	chr16:80603423-80604031	GM12878	blood:	n/a	chr16:80603692-80603701 chr16:80603691-80603700
11	KAP1	chr16:80603210-80604283	HEK293	kidney:	n/a	n/a
12	NFATC1	chr16:80603514-80603932	GM12878	blood:	n/a	n/a
13	NFIC	chr16:80603361-80604227	GM12878	blood:	n/a	n/a
14	RUNX3	chr16:80603357-80604451	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:80603296-80604015	GM12892	blood:	n/a	n/a
16	POLR2A	chr16:80603439-80603947	GM12891	blood:	n/a	n/a
17	POLR2A	chr16:80603324-80603954	GM12891	blood:	n/a	n/a
18	ATF2	chr16:80603410-80603973	GM12878	blood:	n/a	n/a
19	PML	chr16:80603333-80604265	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:80603234-80603932	U87	brain:	n/a	n/a
21	POLR2A	chr16:80603439-80603932	U87	brain:	n/a	n/a
22	FOXM1	chr16:80603417-80604099	GM12878	blood:	n/a	n/a
23	MTA3	chr16:80603281-80604361	GM12878	blood:	n/a	n/a
24	FOXM1	chr16:80603340-80603978	GM12878	blood:	n/a	n/a
25	TAF1	chr16:80603634-80603941	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:80603370-80603962	GM12891	blood:	n/a	n/a
27	JUN	chr16:80603090-80604311	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700

Variant related genes	Relation type
ENSG00000260737	TF binding region

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	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
5	esv3323801	chr16:80603726-80605849	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 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	chr16:80603000-80604000	Enhancers	HSMM	muscle
14	chr16:80603000-80604200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr16:80603000-80604200	Enhancers	Duodenum Mucosa	Duodenum
16	chr16:80603000-80604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:80603000-80604400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr16:80603000-80604400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:80603000-80604400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr16:80603000-80604400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:80603000-80604400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr16:80603000-80604400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:80603000-80604400	Enhancers	Liver	Liver
24	chr16:80603000-80604400	Enhancers	Small Intestine	intestine
25	chr16:80603000-80604400	Enhancers	NHLF	lung
26	chr16:80603200-80604200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:80603200-80604400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr16:80603200-80604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:80603200-80604400	Enhancers	Esophagus	oesophagus
30	chr16:80603200-80604400	Enhancers	Gastric	stomach
31	chr16:80603200-80604400	Enhancers	GM12878-XiMat	blood
32	chr16:80603400-80604000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:80603400-80604000	Enhancers	Hela-S3	cervix
34	chr16:80603400-80604200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:80603400-80604400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:80603400-80604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:80603400-80604400	Enhancers	Lung	lung
38	chr16:80603400-80604400	Enhancers	HSMMtube	muscle
39	chr16:80603600-80604400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr16:80603800-80604400	Enhancers	Osteobl	bone
41	chr16:80603800-80606000	Weak transcription	Spleen	Spleen

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