Variant report

Variant	rs4846682
Chromosome Location	chr1:221212928-221212929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221207871..221209388-chr1:221212017..221214395,2	K562	blood:
2	chr1:221129375..221132337-chr1:221211581..221213547,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10458466	0.84[EUR][1000 genomes]
rs10458469	0.85[EUR][1000 genomes]
rs10746405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863575	0.85[EUR][1000 genomes]
rs10863576	0.84[EUR][1000 genomes]
rs10863577	0.85[EUR][1000 genomes]
rs10863578	0.97[ASN][1000 genomes]
rs11118634	0.84[EUR][1000 genomes]
rs11118635	0.84[EUR][1000 genomes]
rs11118641	0.82[ASN][1000 genomes]
rs11118653	0.80[ASN][1000 genomes]
rs12127195	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs17009346	0.82[ASN][1000 genomes]
rs17009398	0.82[ASN][1000 genomes]
rs4142348	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4391670	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625285	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4846683	0.84[EUR][1000 genomes]
rs4846684	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846685	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55966903	0.82[ASN][1000 genomes]
rs58513421	0.82[ASN][1000 genomes]
rs6661535	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6687526	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6687905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699300	0.82[ASN][1000 genomes]
rs715300	0.81[ASN][1000 genomes]
rs7511784	0.81[ASN][1000 genomes]
rs7512831	0.82[ASN][1000 genomes]
rs7517569	0.90[EUR][1000 genomes]
rs7528865	0.81[AMR][1000 genomes]
rs7542237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221207400-221213000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:221208800-221214400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:221209600-221213000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:221209600-221214000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:221209600-221214000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:221209600-221218600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:221209600-221219600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:221209800-221213200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:221209800-221214200	Weak transcription	NHLF	lung
10	chr1:221210000-221213000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:221210000-221213000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:221210000-221213000	Weak transcription	K562	blood
13	chr1:221210000-221213000	Weak transcription	Osteobl	bone
14	chr1:221210000-221214000	Weak transcription	Hela-S3	cervix
15	chr1:221210000-221214200	Weak transcription	HMEC	breast
16	chr1:221210000-221214400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:221210200-221213000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:221212200-221213400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:221212400-221213600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:221212600-221213400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:221212600-221213600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:221212600-221213600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:221212800-221213400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:221212800-221213800	Enhancers	NHDF-Ad	bronchial

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