Variant report

Variant	rs7546095
Chromosome Location	chr1:75140559-75140560
allele	A/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	CTCF	chr1:75140500-75140650	GM12873	blood:	n/a	n/a
2	CTCF	chr1:75140520-75140670	GM12864	blood:	n/a	n/a
3	CTCF	chr1:75140480-75140630	GM12872	blood:	n/a	n/a
4	CTCF	chr1:75140492-75140638	GM12878	blood:	n/a	n/a
5	CTCF	chr1:75140480-75140630	GM06990	blood:	n/a	n/a
6	CTCF	chr1:75140460-75140610	GM12874	blood:	n/a	n/a
7	SIN3A	chr1:75140541-75140577	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:75140500-75140650	GM12878	blood:	n/a	n/a
9	CTCF	chr1:75140340-75140630	GM12871	blood:	n/a	n/a
10	SPI1	chr1:75140365-75140635	GM12878	blood:	n/a	n/a
11	CTCF	chr1:75140440-75140590	GM12869	blood:	n/a	n/a
12	CTCF	chr1:75140480-75140630	GM12864	blood:	n/a	n/a
13	MAX	chr1:75140394-75140676	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:75140500-75140650	GM12872	blood:	n/a	n/a
15	CTCF	chr1:75140480-75140630	GM12871	blood:	n/a	n/a
16	CTCF	chr1:75140420-75140570	WERI-Rb-1	eye:	n/a	n/a
17	RAD21	chr1:75140306-75140727	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:75140440-75140590	GM12873	blood:	n/a	n/a
19	CTCF	chr1:75140487-75140622	GM12878	blood:	n/a	n/a
20	SPI1	chr1:75140303-75140603	GM12891	blood:	n/a	n/a
21	SPI1	chr1:75140327-75140617	GM12891	blood:	n/a	n/a
22	NANOG	chr1:75140421-75140639	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr1:75140543-75140601	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr1:75140500-75140650	GM12867	blood:	n/a	n/a
25	CTCF	chr1:75140514-75140617	GM12891	blood:	n/a	n/a
26	RELA	chr1:75139386-75140592	GM12891	blood:	n/a	chr1:75139872-75139881 chr1:75139872-75139881
27	CTCF	chr1:75140460-75140610	GM12868	blood:	n/a	n/a
28	CHD1	chr1:75140532-75140584	H1-hESC	embryonic stem cell:	n/a	n/a
29	SPI1	chr1:75140434-75140578	GM12878	blood:	n/a	n/a
30	CTCF	chr1:75140500-75140650	K562	blood:	n/a	n/a
31	NANOG	chr1:75140338-75140668	H1-hESC	embryonic stem cell:	n/a	n/a
32	SPI1	chr1:75140067-75140837	GM12878	blood:	n/a	chr1:75140241-75140254

Variant related genes	Relation type
C1orf173	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10789400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516819	0.82[EUR][1000 genomes];0.95[ASN][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	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830248	chr1:74962391-75144458	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv461995	chr1:75133142-75166623	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv546578	chr1:75133142-75166623	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75139600-75140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:75139800-75140600	Enhancers	Fetal Brain Male	brain
3	chr1:75140000-75140600	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:75140000-75140800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr1:75140000-75140800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr1:75140000-75144400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:75140400-75140600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr1:75140400-75140800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr1:75140400-75140800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:75140400-75141200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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