Variant report

Variant	rs73531988
Chromosome Location	chr8:1202056-1202057
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	NFATC1	chr8:1201665-1202663	GM12878	blood:	n/a	n/a
2	USF1	chr8:1201770-1202082	K562	blood:	n/a	n/a
3	NR2C2	chr8:1201653-1202582	GM12878	blood:	n/a	n/a
4	BCL3	chr8:1201577-1202272	GM12878	blood:	n/a	n/a
5	USF2	chr8:1201841-1202101	HepG2	liver:	n/a	n/a
6	PBX3	chr8:1201811-1202421	GM12878	blood:	n/a	n/a
7	BCL3	chr8:1201626-1202699	GM12878	blood:	n/a	chr8:1202682-1202695
8	SUZ12	chr8:1201683-1202587	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:1201748-1202597	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:1202021-1202525	MCF-7	breast:	n/a	n/a
11	TCF3	chr8:1201767-1202378	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1201588..1203243-chr8:1212763..1215262,2	K562	blood:

Variant related genes	Relation type
ENSG00000254160	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11984803	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34277973	1.00[AMR][1000 genomes]
rs4532616	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55663221	1.00[EUR][1000 genomes]
rs55855709	1.00[AMR][1000 genomes]
rs58145582	1.00[EUR][1000 genomes]
rs59379693	1.00[EUR][1000 genomes]
rs60134267	1.00[EUR][1000 genomes]
rs61002578	1.00[EUR][1000 genomes]
rs61219342	1.00[EUR][1000 genomes]
rs61248810	1.00[EUR][1000 genomes]
rs6992862	0.94[AFR][1000 genomes]
rs7006605	0.93[AFR][1000 genomes]
rs73531966	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73531972	1.00[EUR][1000 genomes]
rs73533772	1.00[EUR][1000 genomes]
rs73533792	1.00[EUR][1000 genomes]
rs73670706	1.00[EUR][1000 genomes]
rs73670714	1.00[EUR][1000 genomes]
rs73670716	1.00[EUR][1000 genomes]
rs73670717	1.00[EUR][1000 genomes]
rs73670721	1.00[EUR][1000 genomes]
rs73670744	1.00[EUR][1000 genomes]
rs73670756	1.00[EUR][1000 genomes]
rs73670762	1.00[EUR][1000 genomes]
rs73674903	1.00[EUR][1000 genomes]
rs73674904	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032939	chr8:542267-1224928	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv539287	chr8:542267-1224928	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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
3	nsv1016213	chr8:560954-1233376	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv995101	chr8:561175-1319861	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1026194	chr8:600959-1467446	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1028487	chr8:674077-1642737	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv429833	chr8:720491-1514173	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv916926	chr8:770001-1354516	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1015330	chr8:954180-1300914	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1031673	chr8:968373-1376139	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv915688	chr8:977114-1368665	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv932163	chr8:977218-1628286	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv949592	chr8:1108087-1561756	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv609500	chr8:1150705-1283208	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1030489	chr8:1162641-1268880	Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv1847286	chr8:1184708-1337250	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv1020410	chr8:1193877-1358472	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	esv3340384	chr8:1199645-1204643	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv3422914	chr8:1200995-1203493	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1200600-1206400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1201600-1202400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:1201600-1202400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:1201600-1202600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
5	chr8:1201600-1202800	ZNF genes & repeats	Pancreas	Pancrea
6	chr8:1201800-1202400	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr8:1201800-1202600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:1201800-1202600	ZNF genes & repeats	Fetal Kidney	kidney
9	chr8:1201800-1202800	ZNF genes & repeats	Gastric	stomach
10	chr8:1202000-1202200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:1202000-1202200	Bivalent/Poised TSS	Fetal Brain Male	brain
12	chr8:1202000-1202600	ZNF genes & repeats	Fetal Lung	lung
13	chr8:1202000-1203400	Enhancers	Brain Inferior Temporal Lobe	brain

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