Variant report

Variant	rs6593552
Chromosome Location	chr1:77165306-77165307
allele	A/G
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	POLR2A	chr1:77165217-77165808	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:77165232-77165740	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:77165150-77166052	Gliobla	brain:	n/a	n/a
4	POLR2A	chr1:77165298-77165555	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr1:77165278-77165659	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:77165122-77166018	ProgFib	skin:	n/a	n/a
7	POLR2A	chr1:77165114-77165805	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr1:77165145-77165791	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:77165162-77165988	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:77165189-77166011	Hela-S3	cervix:	n/a	n/a
11	HEY1	chr1:77165241-77166437	K562	blood:	n/a	n/a
12	POLR2A	chr1:77165250-77166722	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:77165239-77165748	GM12892	blood:	n/a	n/a
14	POLR2A	chr1:77165234-77166508	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:77165274-77165662	GM12891	blood:	n/a	n/a
16	POLR2A	chr1:77165268-77165646	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:77165275-77165538	U87	brain:	n/a	n/a
18	POLR2A	chr1:77165248-77165694	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:77165264-77165622	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:77165171-77166798	A549	lung:	n/a	n/a
21	TAF1	chr1:77165231-77165696	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:77165123-77165831	MCF-7	breast:	n/a	n/a
23	POLR2A	chr1:77165113-77166646	K562	blood:	n/a	n/a
24	TAF1	chr1:77165248-77165609	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:77165139-77166193	MCF-7	breast:	n/a	n/a
26	POLR2A	chr1:77165127-77165978	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:77165182-77165867	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:77165132-77166225	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
TPI1P1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs491408	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs494748	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs524484	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs526256	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs556116	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs638072	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs638340	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646207	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6593551	0.93[EUR][1000 genomes]
rs681551	0.95[ASN][1000 genomes]
rs924296	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997827	chr1:76929028-77201457	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv526433	chr1:77030764-77268215	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1001253	chr1:77077660-77234093	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv870909	chr1:77104773-77195164	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1005649	chr1:77141039-77398747	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv462084	chr1:77144181-77177189	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv546590	chr1:77144181-77177189	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3400374	chr1:77160914-77166412	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv946001	chr1:77160976-77166442	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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