Variant report

Variant	rs28429767
Chromosome Location	chr8:92083230-92083231
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	HCFC1	chr8:92083219-92083400	K562	blood:	n/a	n/a
2	ZNF384	chr8:92081865-92083726	K562	blood:	n/a	n/a
3	TBL1XR1	chr8:92081430-92083425	K562	blood:	n/a	n/a
4	SIN3AK20	chr8:92081526-92083276	MCF-7	breast:	n/a	n/a
5	RCOR1	chr8:92081863-92083347	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr8:92081819-92083573	H1-hESC	embryonic stem cell:	n/a	n/a
7	CUX1	chr8:92081544-92083470	K562	blood:	n/a	n/a
8	RCOR1	chr8:92082026-92083232	K562	blood:	n/a	n/a
9	MXI1	chr8:92080806-92083533	SK-N-SH	brain:	n/a	n/a
10	GATA1	chr8:92081369-92083522	PBDE	blood:	n/a	chr8:92083128-92083135 chr8:92083128-92083135 chr8:92083124-92083140 chr8:92083129-92083146 chr8:92083121-92083142 chr8:92083128-92083135
11	POLR2A	chr8:92081199-92083518	GM12891	blood:	n/a	n/a
12	POLR2A	chr8:92080643-92083498	MCF10A-Er-Src	breast:	n/a	n/a
13	IRF1	chr8:92083207-92083536	K562	blood:	n/a	n/a
14	GTF2F1	chr8:92081744-92083316	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr8:92081325-92083424	IMR90	lung:	n/a	chr8:92082744-92082753
16	SIN3A	chr8:92081705-92083579	H1-hESC	embryonic stem cell:	n/a	chr8:92082426-92082439
17	JUND	chr8:92081305-92083474	K562	blood:	n/a	chr8:92082390-92082399
18	MYC	chr8:92081556-92083675	K562	blood:	n/a	chr8:92082744-92082753
19	UBTF	chr8:92082307-92083399	K562	blood:	n/a	n/a
20	BHLHE40	chr8:92082129-92083498	K562	blood:	n/a	n/a
21	HCFC1	chr8:92081313-92083727	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:91994788..91999054-chr8:92079277..92083347,7	K562	blood:
2	chr8:92050064..92053786-chr8:92080232..92083900,8	K562	blood:
3	chr8:91657088..91659265-chr8:92082267..92084187,3	K562	blood:
4	chr8:92049693..92055107-chr8:92080246..92084828,10	MCF-7	breast:
5	chr8:92055125..92057204-chr8:92081507..92083903,2	K562	blood:
6	chr8:92051581..92056124-chr8:92079748..92084488,10	MCF-7	breast:
7	chr8:91995786..91997694-chr8:92083188..92084734,2	MCF-7	breast:
8	chr8:92056146..92058956-chr8:92081154..92084293,3	MCF-7	breast:
9	chr8:91996381..92003775-chr8:92079147..92086022,11	K562	blood:

Variant related genes	Relation type
ENSG00000253738	TF binding region
ENSG00000254219	Chromatin interaction
ENSG00000155099	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10090581	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10095630	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10096149	0.81[ASN][1000 genomes]
rs10100069	0.90[EUR][1000 genomes]
rs10110267	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10111107	0.80[ASN][1000 genomes]
rs10216413	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10942	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956790	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956791	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956792	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956793	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1138489	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11557571	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11786324	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12334996	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12542178	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12542580	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12545969	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12679861	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28372564	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28629349	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28750250	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808378	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4373488	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4374950	0.80[ASN][1000 genomes]
rs4392858	0.80[ASN][1000 genomes]
rs4493873	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4501548	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4501550	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568579	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55775840	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56084507	0.85[EUR][1000 genomes]
rs56278134	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56306245	0.90[EUR][1000 genomes]
rs57987672	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58278856	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62531560	0.81[EUR][1000 genomes]
rs6471265	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471267	0.80[ASN][1000 genomes]
rs6984580	0.80[ASN][1000 genomes]
rs6993713	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7009170	0.80[ASN][1000 genomes]
rs7009178	0.81[ASN][1000 genomes]
rs7014578	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7815938	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816107	0.86[EUR][1000 genomes]
rs7819178	0.87[EUR][1000 genomes]
rs7820904	0.87[EUR][1000 genomes]
rs7832592	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7841266	0.90[EUR][1000 genomes]
rs7843665	0.81[ASN][1000 genomes]
rs7844277	0.81[ASN][1000 genomes]
rs7846033	0.81[ASN][1000 genomes]
rs8081	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9643319	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9918929	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92080000-92083600	Active TSS	Right Atrium	heart
2	chr8:92080400-92083400	Active TSS	HMEC	breast
3	chr8:92080400-92083800	Active TSS	K562	blood
4	chr8:92080600-92084000	Active TSS	Psoas Muscle	Psoas
5	chr8:92080800-92083800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr8:92080800-92084000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:92081000-92083600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:92081000-92083600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:92081000-92083600	Active TSS	Fetal Intestine Large	intestine
10	chr8:92081000-92083800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:92081000-92083800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:92081000-92084000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:92081200-92083400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:92081200-92083400	Active TSS	Aorta	Aorta
15	chr8:92081200-92083400	Active TSS	Fetal Intestine Small	intestine
16	chr8:92081200-92083400	Active TSS	Ovary	ovary
17	chr8:92081200-92083400	Active TSS	GM12878-XiMat	blood
18	chr8:92081200-92083400	Active TSS	NHDF-Ad	bronchial
19	chr8:92081200-92083400	Active TSS	NHEK	skin
20	chr8:92081200-92083600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr8:92081200-92083600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:92081200-92083600	Active TSS	Muscle Satellite Cultured Cells	--
23	chr8:92081200-92083600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:92081200-92083600	Active TSS	Fetal Muscle Trunk	muscle
25	chr8:92081200-92083600	Active TSS	Fetal Stomach	stomach
26	chr8:92081200-92083600	Active TSS	Right Ventricle	heart
27	chr8:92081200-92083600	Active TSS	A549	lung
28	chr8:92081200-92083600	Active TSS	HSMMtube	muscle
29	chr8:92081200-92083800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr8:92081200-92084000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:92081200-92084000	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr8:92081400-92083400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:92081400-92083400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:92081400-92083400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:92081400-92083400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:92081400-92083400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr8:92081400-92083400	Active TSS	Placenta	Placenta
38	chr8:92081400-92083400	Active TSS	Left Ventricle	heart
39	chr8:92081400-92083400	Active TSS	Placenta Amnion	Placenta Amnion
40	chr8:92081400-92083400	Active TSS	Hela-S3	cervix
41	chr8:92081400-92083600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:92081400-92083600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:92081400-92083600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:92081400-92083600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:92081400-92083600	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr8:92081400-92083600	Active TSS	Brain Germinal Matrix	brain
47	chr8:92081400-92083600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr8:92081400-92083600	Active TSS	Pancreas	Pancrea
49	chr8:92081400-92083800	Active TSS	H9 Cell Line	embryonic stem cell
50	chr8:92081400-92083800	Active TSS	HUES6 Cell Line	embryonic stem cell

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