Variant report

Variant	rs6891419
Chromosome Location	chr5:95309643-95309644
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	POU2F2	chr5:95309535-95310096	GM12878	blood:	n/a	n/a
2	EP300	chr5:95309637-95310002	GM12878	blood:	n/a	n/a
3	CREB1	chr5:95309495-95310210	K562	blood:	n/a	n/a
4	PAX5	chr5:95309463-95310080	GM12878	blood:	n/a	n/a
5	SP1	chr5:95309534-95310066	GM12878	blood:	n/a	n/a
6	CREB1	chr5:95309643-95310105	K562	blood:	n/a	n/a
7	BATF	chr5:95309551-95310064	GM12878	blood:	n/a	n/a
8	EBF1	chr5:95309622-95310046	GM12878	blood:	n/a	n/a
9	SP1	chr5:95309496-95310059	GM12878	blood:	n/a	n/a
10	RCOR1	chr5:95309621-95310121	K562	blood:	n/a	n/a
11	MAX	chr5:95309586-95310087	NB4	blood:	n/a	n/a
12	NR2F2	chr5:95309426-95310140	K562	blood:	n/a	n/a
13	EGR1	chr5:95309631-95309817	GM12878	blood:	n/a	chr5:95309727-95309741
14	FOSL1	chr5:95309561-95310129	K562	blood:	n/a	chr5:95309583-95309591 chr5:95309582-95309592 chr5:95309582-95309592 chr5:95309582-95309592 chr5:95309835-95309846
15	MTA3	chr5:95309600-95310016	GM12878	blood:	n/a	n/a
16	TEAD4	chr5:95309466-95310174	K562	blood:	n/a	n/a
17	RELA	chr5:95309600-95310034	GM18505	blood:	n/a	chr5:95309799-95309808 chr5:95309799-95309808
18	GABPA	chr5:95309625-95310093	K562	blood:	n/a	n/a
19	BCL11A	chr5:95309560-95310076	GM12878	blood:	n/a	n/a
20	CBX3	chr5:95309519-95310134	K562	blood:	n/a	n/a
21	EP300	chr5:95309552-95310127	GM12878	blood:	n/a	n/a
22	RELA	chr5:95309568-95310016	GM10847	blood:	n/a	chr5:95309799-95309808 chr5:95309799-95309808
23	RFX5	chr5:95309600-95310270	GM12878	blood:	n/a	n/a
24	RELA	chr5:95309469-95310149	GM12878	blood:	n/a	chr5:95309799-95309808 chr5:95309799-95309808
25	STAT5A	chr5:95309595-95310143	K562	blood:	n/a	chr5:95309936-95309945
26	ELF1	chr5:95309567-95310016	GM12878	blood:	n/a	n/a
27	CEBPB	chr5:95309391-95310003	IMR90	lung:	n/a	n/a
28	RELA	chr5:95309598-95310039	GM12892	blood:	n/a	chr5:95309799-95309808 chr5:95309799-95309808
29	RUNX3	chr5:95309508-95310105	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:95309636-95310129	K562	blood:	n/a	n/a
31	CEBPD	chr5:95309630-95310193	K562	blood:	n/a	n/a
32	JUND	chr5:95309509-95310159	K562	blood:	n/a	chr5:95309583-95309591 chr5:95309582-95309592 chr5:95309582-95309592 chr5:95309582-95309592 chr5:95309835-95309846
33	RELA	chr5:95309584-95310093	GM19099	blood:	n/a	chr5:95309799-95309808 chr5:95309799-95309808
34	CREB1	chr5:95309539-95310208	GM12878	blood:	n/a	n/a
35	TEAD4	chr5:95309609-95310127	K562	blood:	n/a	n/a
36	STAT5A	chr5:95309523-95310028	GM12878	blood:	n/a	chr5:95309936-95309945
37	ELF1	chr5:95309642-95310032	K562	blood:	n/a	n/a
38	EBF1	chr5:95309613-95310003	GM12878	blood:	n/a	n/a
39	NFIC	chr5:95309432-95310156	GM12878	blood:	n/a	n/a
40	YY1	chr5:95309609-95309962	GM12878	blood:	n/a	n/a
41	JUN	chr5:95309534-95310324	K562	blood:	n/a	chr5:95309583-95309591 chr5:95309582-95309592 chr5:95309582-95309592 chr5:95309582-95309592 chr5:95309835-95309846
42	BCL11A	chr5:95309598-95309994	GM12878	blood:	n/a	n/a
43	IKZF1	chr5:95309549-95310048	GM12878	blood:	n/a	n/a
44	EGR1	chr5:95309598-95309851	GM12878	blood:	n/a	chr5:95309727-95309741
45	RELA	chr5:95309607-95310010	GM19193	blood:	n/a	chr5:95309799-95309808 chr5:95309799-95309808
46	ZEB1	chr5:95309625-95309895	GM12878	blood:	n/a	n/a
47	RELA	chr5:95309561-95310035	GM12891	blood:	n/a	chr5:95309799-95309808 chr5:95309799-95309808
48	STAT5A	chr5:95309500-95310068	GM12878	blood:	n/a	chr5:95309502-95309513 chr5:95309936-95309945
49	GATA2	chr5:95309420-95310133	K562	blood:	n/a	n/a
50	BCLAF1	chr5:95309473-95310082	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95304291..95306265-chr5:95309546..95312179,2	K562	blood:
2	chr5:95309496..95312774-chr5:95317440..95321403,4	K562	blood:
3	chr5:95294835..95302887-chr5:95306601..95313873,11	K562	blood:
4	chr5:95295795..95298001-chr5:95305862..95309802,3	MCF-7	breast:

Variant related genes	Relation type
FABP5P5	TF binding region
ENSG00000118985	Chromatin interaction
ENSG00000251314	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2125225	1.00[AFR][1000 genomes]
rs6888205	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95298800-95322600	Weak transcription	Pancreas	Pancrea
2	chr5:95305200-95310600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:95307400-95318800	Weak transcription	HepG2	liver
4	chr5:95308000-95309800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:95308800-95311800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:95309000-95310000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:95309000-95310000	Enhancers	Lung	lung
8	chr5:95309000-95310000	Enhancers	Stomach Mucosa	stomach
9	chr5:95309000-95310400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:95309000-95310400	Enhancers	Osteobl	bone
11	chr5:95309000-95310800	Enhancers	GM12878-XiMat	blood
12	chr5:95309000-95311000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:95309000-95312000	Enhancers	K562	blood
14	chr5:95309200-95310400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:95309200-95310400	Enhancers	NHLF	lung
16	chr5:95309400-95310200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:95309400-95311800	Enhancers	Dnd41	blood
18	chr5:95309600-95309800	Enhancers	Left Ventricle	heart
19	chr5:95309600-95310400	Enhancers	NH-A	brain
20	chr5:95309600-95310800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:95309600-95310800	Enhancers	Gastric	stomach
22	chr5:95309600-95310800	Enhancers	HSMM	muscle
23	chr5:95309600-95311200	Enhancers	Fetal Lung	lung
24	chr5:95309600-95314200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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