Variant report

Variant	rs6669813
Chromosome Location	chr1:212664459-212664460
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212662987..212664917-chr1:212706060..212707945,2	K562	blood:
2	chr1:212661275..212664884-chr1:212673911..212677045,3	K562	blood:
3	chr1:212663791..212666125-chr1:212687800..212689535,2	K562	blood:
4	chr1:212648507..212667078-chr1:212779147..212787651,52	K562	blood:
5	chr1:212663187..212667039-chr1:212686323..212689300,3	K562	blood:
6	chr1:212663370..212665864-chr1:212666315..212667949,2	K562	blood:
7	chr1:212663057..212665371-chr1:212783064..212784989,2	MCF-7	breast:
8	chr1:212645024..212669819-chr1:212778382..212791615,68	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264590	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12131037	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12135668	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12141407	0.98[EUR][1000 genomes]
rs12729438	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12753186	0.86[ASN][1000 genomes]
rs12754528	0.83[ASN][1000 genomes]
rs13374785	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2005230	0.85[ASN][1000 genomes]
rs2292479	0.86[ASN][1000 genomes]
rs2292481	0.86[ASN][1000 genomes]
rs2292482	0.86[ASN][1000 genomes]
rs3001262	0.87[EUR][1000 genomes]
rs34543166	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36056520	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3951316	0.86[ASN][1000 genomes]
rs525176	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs557252	0.87[EUR][1000 genomes]
rs591176	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs624387	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs626178	0.87[EUR][1000 genomes]
rs638527	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs653006	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs653532	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6704297	0.86[ASN][1000 genomes]
rs679840	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs748517	0.97[EUR][1000 genomes]
rs7513550	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7517259	0.86[ASN][1000 genomes]
rs7519767	0.86[ASN][1000 genomes]
rs7529867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553229	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs796930	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs806539	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9430096	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS 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 miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
5	nsv873159	chr1:212610755-212669475	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873160	chr1:212610755-212675482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv873161	chr1:212610755-212683565	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv873163	chr1:212629935-212669475	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
12	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6669813	C1orf75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212650600-212667800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:212655000-212665800	Enhancers	Placenta	Placenta
3	chr1:212657200-212664800	Weak transcription	Spleen	Spleen
4	chr1:212661200-212665800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:212661400-212664600	Enhancers	Brain Hippocampus Middle	brain
6	chr1:212661400-212664600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:212662000-212664600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:212662600-212664800	Weak transcription	GM12878-XiMat	blood
9	chr1:212662600-212671200	Weak transcription	Left Ventricle	heart
10	chr1:212662800-212667000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:212662800-212671800	Weak transcription	Lung	lung
12	chr1:212663000-212664800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:212663000-212667000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:212663000-212671400	Weak transcription	Right Atrium	heart
15	chr1:212663200-212678400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:212663400-212671600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:212663800-212664800	Weak transcription	A549	lung
18	chr1:212664000-212669000	Weak transcription	Brain Anterior Caudate	brain
19	chr1:212664200-212664600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:212664200-212665000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:212664200-212665600	Enhancers	Adipose Nuclei	Adipose
22	chr1:212664200-212669000	Weak transcription	Brain Substantia Nigra	brain
23	chr1:212664400-212669000	Weak transcription	Brain Inferior Temporal Lobe	brain

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