Variant report

Variant	rs6918101
Chromosome Location	chr6:25027288-25027289
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	CTCF	chr6:25026934-25027940	GM12878	blood:	n/a	chr6:25027089-25027107 chr6:25027554-25027567 chr6:25027788-25027801 chr6:25027090-25027106 chr6:25027571-25027584 chr6:25027084-25027105
2	RAD21	chr6:25026983-25027739	H1-hESC	embryonic stem cell:	n/a	chr6:25027087-25027106 chr6:25027553-25027566 chr6:25027490-25027499 chr6:25027552-25027564
3	MAFK	chr6:25026940-25027301	H1-hESC	embryonic stem cell:	n/a	chr6:25027186-25027197 chr6:25027186-25027197 chr6:25027187-25027198 chr6:25027222-25027232 chr6:25027185-25027199 chr6:25027186-25027201 chr6:25027031-25027046 chr6:25027186-25027202
4	MAFK	chr6:25027075-25027334	IMR90	lung:	n/a	chr6:25027186-25027197 chr6:25027186-25027197 chr6:25027187-25027198 chr6:25027222-25027232 chr6:25027185-25027199 chr6:25027186-25027201 chr6:25027186-25027202
5	RAD21	chr6:25026821-25027340	H1-hESC	embryonic stem cell:	n/a	chr6:25027087-25027106
6	MAFK	chr6:25027186-25027363	HepG2	liver:	n/a	chr6:25027186-25027197 chr6:25027186-25027197 chr6:25027187-25027198 chr6:25027222-25027232 chr6:25027186-25027201 chr6:25027186-25027202
7	MTA3	chr6:25027257-25027872	GM12878	blood:	n/a	n/a
8	PML	chr6:25027265-25028091	GM12878	blood:	n/a	chr6:25027910-25027919
9	RUNX3	chr6:25027281-25028203	GM12878	blood:	n/a	n/a
10	EBF1	chr6:25027066-25028137	GM12878	blood:	n/a	chr6:25028076-25028085
11	BACH1	chr6:25027061-25027420	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFK	chr6:25027172-25027358	HepG2	liver:	n/a	chr6:25027186-25027197 chr6:25027186-25027197 chr6:25027187-25027198 chr6:25027222-25027232 chr6:25027185-25027199 chr6:25027186-25027201 chr6:25027186-25027202
13	SMC3	chr6:25027011-25027958	GM12878	blood:	n/a	chr6:25027773-25027781 chr6:25027091-25027105

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25025835..25027765-chr6:25032944..25034504,2	K562	blood:
2	chr6:25024268..25027647-chr6:25028842..25032564,4	K562	blood:

Variant related genes	Relation type
ASS1P1	TF binding region
ENSG00000244618	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10806997	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946741	0.83[EUR][1000 genomes]
rs10946742	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946743	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2394360	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4712878	0.80[EUR][1000 genomes]
rs4712879	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4712880	0.90[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6922006	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv883482	chr6:24926730-25035920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1030634	chr6:24938277-25040161	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6918101	HIST1H3G	cis	parietal	SCAN
rs6918101	CMAH	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25011200-25035600	Weak transcription	Spleen	Spleen
2	chr6:25018200-25027400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:25024600-25027600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:25024800-25027400	Enhancers	Primary hematopoietic stem cells	blood
5	chr6:25024800-25027600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:25024800-25027600	Enhancers	HMEC	breast
7	chr6:25024800-25028200	Enhancers	NHEK	skin
8	chr6:25024800-25028400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:25025000-25027400	Enhancers	Primary T cells from cord blood	blood
10	chr6:25025000-25027400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:25025000-25028000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:25025000-25028600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:25025200-25028600	Enhancers	Fetal Thymus	thymus
14	chr6:25025400-25028400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:25025600-25027800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:25025600-25028000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:25026000-25027400	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:25026000-25027800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:25026000-25028200	Enhancers	Fetal Lung	lung
20	chr6:25026200-25027400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:25026200-25027400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr6:25026200-25027400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:25026200-25028000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:25026400-25027400	Enhancers	Primary B cells from cord blood	blood
25	chr6:25026400-25028000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:25026400-25033600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:25026600-25027600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:25026800-25027400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:25026800-25027400	Enhancers	Thymus	Thymus
30	chr6:25026800-25028200	Flanking Active TSS	GM12878-XiMat	blood
31	chr6:25027000-25027400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr6:25027000-25027400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:25027000-25027400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:25027000-25027400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:25027000-25028200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:25027000-25028200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr6:25027000-25028200	Flanking Active TSS	Dnd41	blood
38	chr6:25027000-25028400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr6:25027000-25028600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:25027000-25028600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:25027200-25028000	Active TSS	Duodenum Mucosa	Duodenum
42	chr6:25027200-25028200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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