Variant report

Variant	rs72688543
Chromosome Location	chr8:87333361-87333362
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254231	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10504824	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17607526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17607671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17607762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17682190	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41374044	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688516	1.00[AMR][1000 genomes]
rs72688541	0.83[EUR][1000 genomes]
rs72688546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688555	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688556	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688567	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72688569	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688571	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688572	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688578	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688580	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688583	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1023114	chr8:87167184-87335197	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1033960	chr8:87167790-87334194	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1016050	chr8:87167790-87335197	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1023772	chr8:87177368-87334194	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1031874	chr8:87177368-87335197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1030401	chr8:87177368-87337260	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2761445	chr8:87185470-87335197	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv519507	chr8:87187195-87333968	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv611708	chr8:87205885-87333968	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87328600-87333800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:87328600-87333800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr8:87330800-87334800	Enhancers	Fetal Lung	lung
4	chr8:87331200-87334400	Weak transcription	Esophagus	oesophagus
5	chr8:87331400-87333400	Weak transcription	Psoas Muscle	Psoas
6	chr8:87332200-87333600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:87332200-87334200	Enhancers	Ovary	ovary
8	chr8:87332200-87334400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:87332200-87334800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:87332200-87334800	Enhancers	Placenta	Placenta
11	chr8:87332200-87334800	Enhancers	NHEK	skin
12	chr8:87332400-87333400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:87332400-87333400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:87332400-87333600	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:87332400-87334400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:87332400-87334600	Weak transcription	Left Ventricle	heart
17	chr8:87332600-87333600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:87332600-87333600	Weak transcription	Fetal Stomach	stomach
19	chr8:87332600-87333600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:87332800-87333400	Enhancers	Brain Germinal Matrix	brain
21	chr8:87332800-87333800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:87332800-87334000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:87332800-87334200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:87332800-87334200	Enhancers	A549	lung
25	chr8:87332800-87334600	Enhancers	HepG2	liver
26	chr8:87332800-87334800	Enhancers	Liver	Liver
27	chr8:87333000-87334000	Weak transcription	Primary T cells from cord blood	blood
28	chr8:87333200-87334800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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