Variant report

Variant	rs10873675
Chromosome Location	chr1:85460147-85460148
allele	C/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	chr1:85459671-85465061	GM12892	blood:	n/a	n/a
2	WRNIP1	chr1:85459888-85460381	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:85459807-85464317	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:85459685-85460827	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:85459795-85464999	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:85460139-85460731	GM12891	blood:	n/a	n/a
7	CHD1	chr1:85459740-85463594	GM12878	blood:	n/a	chr1:85462833-85462843 chr1:85462244-85462251
8	POLR2A	chr1:85459655-85461458	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:85459716-85463123	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:85459729-85462938	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:85459987-85460789	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:85459862-85464245	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85457596..85460591-chr1:85461678..85464189,2	MCF-7	breast:

Variant related genes	Relation type
WDR63	TF binding region
ENSG00000153898	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10782535	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1458401	1.00[ASN][1000 genomes]
rs2039814	1.00[ASN][1000 genomes]
rs486647	1.00[ASN][1000 genomes]
rs4907122	1.00[ASN][1000 genomes]
rs496561	1.00[ASN][1000 genomes]
rs499579	1.00[ASN][1000 genomes]
rs511765	1.00[ASN][1000 genomes]
rs517156	1.00[ASN][1000 genomes]
rs531169	1.00[ASN][1000 genomes]
rs534908	1.00[ASN][1000 genomes]
rs562126	1.00[ASN][1000 genomes]
rs586403	1.00[ASN][1000 genomes]
rs589227	1.00[ASN][1000 genomes]
rs599137	1.00[ASN][1000 genomes]
rs599888	1.00[ASN][1000 genomes]
rs607298	1.00[ASN][1000 genomes]
rs614194	1.00[ASN][1000 genomes]
rs61769365	1.00[ASN][1000 genomes]
rs641427	1.00[ASN][1000 genomes]
rs6576737	1.00[ASN][1000 genomes]
rs6576740	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576742	1.00[ASN][1000 genomes]
rs6576743	1.00[ASN][1000 genomes]
rs664763	1.00[ASN][1000 genomes]
rs6684210	1.00[ASN][1000 genomes]
rs679932	1.00[ASN][1000 genomes]
rs680330	1.00[ASN][1000 genomes]
rs7519717	1.00[ASN][1000 genomes]
rs7533496	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537692	1.00[ASN][1000 genomes]
rs920340	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804097	1.00[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	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv3515392	chr1:85437980-85465392	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3515393	chr1:85437980-85465392	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85441200-85460200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:85454800-85460600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:85454800-85461600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:85454800-85462000	Weak transcription	Spleen	Spleen
5	chr1:85454800-85462200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:85457200-85460200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:85457200-85461800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:85457800-85460400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:85458000-85460400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:85458200-85461000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:85458200-85461000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:85459400-85460800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:85459600-85461600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:85459800-85462000	Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:85460000-85460400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:85460000-85460400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
17	chr1:85460000-85461600	Enhancers	Primary B cells from peripheral blood	blood

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