Variant report

Variant	rs60876341
Chromosome Location	chr17:45951004-45951005
allele	C/T
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	chr17:45926872..45930538-chr17:45948934..45951348,3	MCF-7	breast:
5	chr17:45949537..45952014-chr17:45960659..45962461,3	MCF-7	breast:
6	chr17:45945306..45947161-chr17:45950628..45952334,2	K562	blood:
7	chr17:45909693..45911747-chr17:45950278..45952452,2	K562	blood:

Variant related genes	Relation type
ENSG00000189120	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12450849	1.00[EUR][1000 genomes]
rs12452989	1.00[EUR][1000 genomes]
rs12453958	1.00[EUR][1000 genomes]
rs2525099	1.00[EUR][1000 genomes]
rs2525100	1.00[EUR][1000 genomes]
rs60163848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61521088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9889272	1.00[EUR][1000 genomes]
rs9890122	1.00[EUR][1000 genomes]
rs9899629	1.00[EUR][1000 genomes]
rs9907614	1.00[EUR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45948800-45951200	Bivalent Enhancer	Fetal Thymus	thymus
2	chr17:45949400-45953200	Enhancers	Primary hematopoietic stem cells	blood
3	chr17:45949600-45952000	Enhancers	K562	blood
4	chr17:45949800-45951200	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr17:45950000-45951200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr17:45950000-45951200	Bivalent Enhancer	GM12878-XiMat	blood
7	chr17:45950000-45951400	Bivalent Enhancer	Fetal Lung	lung
8	chr17:45950000-45954600	Weak transcription	Lung	lung
9	chr17:45950200-45951400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:45950400-45951600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:45950400-45951800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr17:45950400-45953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr17:45950400-45955400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:45950600-45951200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:45950600-45951200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:45950600-45951200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:45950600-45951400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr17:45950600-45952400	Weak transcription	HMEC	breast
19	chr17:45950600-45954000	Enhancers	Placenta	Placenta
20	chr17:45950600-45955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:45950800-45951200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr17:45950800-45951400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr17:45950800-45951400	Bivalent Enhancer	Fetal Heart	heart
24	chr17:45950800-45952000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr17:45950800-45955200	Weak transcription	HSMM	muscle
26	chr17:45951000-45951200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr17:45951000-45951200	Enhancers	Spleen	Spleen
28	chr17:45951000-45951200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr17:45951000-45951600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr17:45951000-45952000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:45951000-45953000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr17:45951000-45953400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr17:45951000-45955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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