Variant report

Variant	rs505102
Chromosome Location	chr1:196619502-196619503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:196619360-196619510	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr1:196619132-196619683	K562	blood:	n/a	n/a
3	CBX3	chr1:196619084-196619803	K562	blood:	n/a	n/a
4	JUND	chr1:196619178-196619705	K562	blood:	n/a	n/a
5	TAF1	chr1:196619114-196619524	K562	blood:	n/a	n/a
6	RCOR1	chr1:196619261-196619585	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr1:196619126-196619780	K562	blood:	n/a	n/a
8	MAFK	chr1:196619127-196619560	K562	blood:	n/a	n/a
9	TBP	chr1:196619064-196619586	K562	blood:	n/a	n/a
10	TBL1XR1	chr1:196619319-196619524	K562	blood:	n/a	n/a
11	RCOR1	chr1:196619152-196619655	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196618602..196620905-chr1:196624002..196626095,2	K562	blood:
2	chr1:196030521..196032166-chr1:196617172..196619617,2	K562	blood:

No data

Variant related genes	Relation type
CFH	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10801551	0.93[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs10801560	0.93[CEU][hapmap]
rs10801561	0.93[CEU][hapmap]
rs12041668	0.81[CEU][hapmap]
rs12061508	0.87[EUR][1000 genomes]
rs12124794	0.93[CEU][hapmap]
rs1831281	0.93[CEU][hapmap]
rs2284664	0.86[CEU][hapmap]
rs28688002	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34388368	0.91[EUR][1000 genomes]
rs3753394	0.86[CHD][hapmap]
rs4657825	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs481595	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5016801	0.91[EUR][1000 genomes]
rs514591	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs529825	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs551397	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs558103	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559350	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6660100	0.90[EUR][1000 genomes]
rs6680396	0.93[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs6690982	0.90[EUR][1000 genomes]
rs800292	0.93[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872958	chr1:196615838-196645117	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs505102	CFH	cis	parietal	SCAN
rs505102	CFHR3	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619000-196619600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:196619000-196619800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:196619000-196619800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:196619000-196619800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:196619000-196619800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:196619000-196621400	Active TSS	Hela-S3	cervix
7	chr1:196619200-196619600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr1:196619200-196619800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:196619200-196619800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:196619200-196619800	Enhancers	Fetal Thymus	thymus
11	chr1:196619200-196619800	Enhancers	Psoas Muscle	Psoas
12	chr1:196619200-196619800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:196619200-196620000	Active TSS	HSMM	muscle
14	chr1:196619200-196621000	Flanking Active TSS	Dnd41	blood
15	chr1:196619400-196619600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:196619400-196619600	Active TSS	HSMMtube	muscle
17	chr1:196619400-196619800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:196619400-196619800	Enhancers	Fetal Muscle Leg	muscle
19	chr1:196619400-196619800	Flanking Active TSS	K562	blood
20	chr1:196619400-196621400	Active TSS	Skeletal Muscle Male	skeletal muscle

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