Variant report

Variant	rs35004787
Chromosome Location	chr17:45951709-45951710
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45950457..45952482-chr17:45959947..45962257,2	K562	blood:
2	chr17:45949402..45954335-chr17:45955513..45959303,4	K562	blood:
3	chr17:45928067..45929826-chr17:45950552..45952280,2	MCF-7	breast:
4	chr17:45949537..45952014-chr17:45960659..45962461,3	MCF-7	breast:
5	chr17:45945306..45947161-chr17:45950628..45952334,2	K562	blood:
6	chr17:45909693..45911747-chr17:45950278..45952452,2	K562	blood:

Variant related genes	Relation type
ENSG00000189120	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11079804	0.83[AMR][1000 genomes]
rs12452082	0.85[AMR][1000 genomes]
rs12948368	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17617250	0.87[AMR][1000 genomes]
rs35132293	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35480192	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35533494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35702577	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4793693	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4794225	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56119022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62067368	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66721410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45949400-45953200	Enhancers	Primary hematopoietic stem cells	blood
2	chr17:45949600-45952000	Enhancers	K562	blood
3	chr17:45950000-45954600	Weak transcription	Lung	lung
4	chr17:45950400-45951800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr17:45950400-45953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:45950400-45955400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:45950600-45952400	Weak transcription	HMEC	breast
8	chr17:45950600-45954000	Enhancers	Placenta	Placenta
9	chr17:45950600-45955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:45950800-45952000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:45950800-45955200	Weak transcription	HSMM	muscle
12	chr17:45951000-45952000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:45951000-45953000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:45951000-45953400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr17:45951000-45955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:45951200-45952200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:45951200-45952200	Weak transcription	Spleen	Spleen
18	chr17:45951200-45952600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:45951200-45953400	Enhancers	Fetal Thymus	thymus
20	chr17:45951400-45951800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:45951600-45952000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:45951600-45953400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr17:45951600-45953600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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