Variant report

Variant	rs539917
Chromosome Location	chr1:196619707-196619708
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	BRCA1	chr1:196619661-196619815	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr1:196619084-196619803	K562	blood:	n/a	n/a
3	SMC3	chr1:196619689-196619793	Hela-S3	cervix:	n/a	n/a
4	ZNF143	chr1:196619523-196619796	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr1:196619524-196619938	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:196619680-196619774	MCF-7	breast:	n/a	n/a
7	MAZ	chr1:196619126-196619780	K562	blood:	n/a	n/a
8	POLR2A	chr1:196619640-196619797	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:196619653-196619767	A549	lung:	n/a	n/a
10	POLR2A	chr1:196619552-196619801	MCF-7	breast:	n/a	n/a

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

Variant related genes	Relation type
CFH	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16840379	0.82[ASN][1000 genomes]
rs35229136	0.82[ASN][1000 genomes]
rs35836460	0.82[ASN][1000 genomes]
rs4507960	0.94[AMR][1000 genomes]
rs480266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487114	0.82[ASN][1000 genomes]
rs499807	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs512900	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs558024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6428350	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6428351	0.94[AMR][1000 genomes]
rs7551203	0.82[ASN][1000 genomes]
rs944041	0.97[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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619000-196619800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:196619000-196619800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:196619000-196619800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:196619000-196619800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:196619000-196621400	Active TSS	Hela-S3	cervix
6	chr1:196619200-196619800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:196619200-196619800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:196619200-196619800	Enhancers	Fetal Thymus	thymus
9	chr1:196619200-196619800	Enhancers	Psoas Muscle	Psoas
10	chr1:196619200-196619800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr1:196619200-196620000	Active TSS	HSMM	muscle
12	chr1:196619200-196621000	Flanking Active TSS	Dnd41	blood
13	chr1:196619400-196619800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:196619400-196619800	Enhancers	Fetal Muscle Leg	muscle
15	chr1:196619400-196619800	Flanking Active TSS	K562	blood
16	chr1:196619400-196621400	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:196619600-196619800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:196619600-196619800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:196619600-196619800	Flanking Active TSS	HSMMtube	muscle
20	chr1:196619600-196620600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:196619600-196620800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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