Variant report

Variant	rs73985417
Chromosome Location	chr17:45935006-45935007
allele	C/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	E2F6	chr17:45934820-45935405	H1-hESC	embryonic stem cell:	n/a	chr17:45935072-45935084 chr17:45935073-45935088

No.	Distal block	Cell Line	Cell type
1	chr17:45926966..45929005-chr17:45934269..45935916,2	MCF-7	breast:
2	chr17:45927036..45931880-chr17:45931939..45936922,11	K562	blood:
3	chr17:45930221..45932836-chr17:45934311..45936272,2	MCF-7	breast:
4	chr17:45934921..45937833-chr17:45952289..45955225,2	MCF-7	breast:
5	chr17:45933613..45936211-chr17:45944971..45946687,2	K562	blood:
6	chr17:45927380..45931249-chr17:45931939..45938449,12	K562	blood:
7	chr17:45907292..45909016-chr17:45933729..45935257,2	MCF-7	breast:

Variant related genes	Relation type
SP6	TF binding region
ENSG00000159111	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000189120	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12451260	1.00[EUR][1000 genomes]
rs12603133	1.00[AMR][1000 genomes]
rs12941306	1.00[AMR][1000 genomes]
rs12942412	1.00[AMR][1000 genomes]
rs12944699	1.00[AMR][1000 genomes]
rs12945188	1.00[AMR][1000 genomes]
rs12945362	1.00[AMR][1000 genomes]
rs12945768	1.00[AMR][1000 genomes]
rs12947761	1.00[AMR][1000 genomes]
rs12947966	1.00[AMR][1000 genomes]
rs12948207	1.00[AMR][1000 genomes]
rs34033530	1.00[AMR][1000 genomes]
rs34038169	1.00[AMR][1000 genomes]
rs34153693	1.00[AMR][1000 genomes]
rs34166016	1.00[AMR][1000 genomes]
rs34358803	1.00[AMR][1000 genomes]
rs34632031	1.00[AMR][1000 genomes]
rs34822864	1.00[AMR][1000 genomes]
rs34958507	1.00[AMR][1000 genomes]
rs35273388	1.00[AMR][1000 genomes]
rs35534834	1.00[AMR][1000 genomes]
rs35551276	1.00[AMR][1000 genomes]
rs35647888	1.00[AMR][1000 genomes]
rs35677091	1.00[AMR][1000 genomes]
rs35711165	1.00[AMR][1000 genomes]
rs35751035	1.00[AMR][1000 genomes]
rs35766594	1.00[AMR][1000 genomes]
rs35795560	1.00[AMR][1000 genomes]
rs35848720	1.00[AMR][1000 genomes]
rs35928933	1.00[AMR][1000 genomes]
rs36059789	1.00[AMR][1000 genomes]
rs36090279	1.00[AMR][1000 genomes]
rs56078988	1.00[AMR][1000 genomes]
rs56363348	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57948485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58974249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59483607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59727791	1.00[AMR][1000 genomes]
rs60224300	1.00[AMR][1000 genomes]
rs6503951	1.00[AMR][1000 genomes]
rs71377331	1.00[AMR][1000 genomes]
rs71377332	1.00[AMR][1000 genomes]
rs71377334	1.00[AMR][1000 genomes]
rs71377338	1.00[AMR][1000 genomes]
rs71377341	1.00[AMR][1000 genomes]
rs71377342	1.00[AMR][1000 genomes]
rs73985416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8075711	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45929800-45940000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:45930800-45935600	Weak transcription	K562	blood
3	chr17:45933000-45935200	Enhancers	Placenta	Placenta
4	chr17:45933200-45935600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:45933200-45935600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr17:45933400-45937000	Weak transcription	Spleen	Spleen
7	chr17:45934200-45936600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr17:45934400-45940000	Weak transcription	Lung	lung
9	chr17:45934600-45935800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr17:45934600-45935800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:45934800-45935600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:45934800-45935600	Enhancers	Primary hematopoietic stem cells	blood
13	chr17:45934800-45935600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:45934800-45935800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr17:45934800-45935800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr17:45934800-45935800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:45934800-45935800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:45934800-45935800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:45934800-45935800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:45935000-45935600	Enhancers	Fetal Thymus	thymus
21	chr17:45935000-45935800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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