Variant report

Variant	rs1610629
Chromosome Location	chr6:29728570-29728571
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:29728325..29730576-chr6:29733816..29735445,2	K562	blood:
2	chr6:29725320..29727210-chr6:29727863..29730824,2	K562	blood:
3	chr6:29727884..29729689-chr6:29740628..29742305,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1419696	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1610601	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1610602	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610608	0.91[ASN][1000 genomes]
rs1610612	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610617	0.90[ASN][1000 genomes]
rs1610621	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1610625	0.91[ASN][1000 genomes]
rs1610633	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1610729	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1610735	0.91[ASN][1000 genomes]
rs1611284	0.86[ASN][1000 genomes]
rs1622223	0.82[ASN][1000 genomes]
rs1628578	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1632957	0.83[ASN][1000 genomes]
rs1633063	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1633065	0.93[ASN][1000 genomes]
rs1633088	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1633096	0.93[ASN][1000 genomes]
rs1633098	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633099	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633106	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1633107	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1736915	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737077	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2248927	0.83[ASN][1000 genomes]
rs2517942	0.81[ASN][1000 genomes]
rs2523392	0.83[ASN][1000 genomes]
rs2523394	0.83[ASN][1000 genomes]
rs2523399	0.83[ASN][1000 genomes]
rs2523400	0.83[ASN][1000 genomes]
rs2735054	0.83[ASN][1000 genomes]
rs2735055	0.83[ASN][1000 genomes]
rs2844847	0.81[ASN][1000 genomes]
rs885942	0.93[ASN][1000 genomes]
rs885943	0.93[ASN][1000 genomes]
rs885944	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs885945	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs885946	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs929158	0.93[ASN][1000 genomes]
rs929159	0.93[ASN][1000 genomes]
rs929160	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv883535	chr6:29725321-29741338	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1610629	ZFP57	Cis_1M	lymphoblastoid	RTeQTL
rs1610629	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs1610629	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29721600-29729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:29723000-29728600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:29723200-29728600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:29723200-29728600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr6:29723200-29728600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:29724200-29728600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:29724200-29728600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:29725800-29728600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:29726000-29729000	Weak transcription	HMEC	breast
10	chr6:29726800-29728600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:29727000-29728600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:29727000-29728600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:29727200-29728600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:29727200-29728600	Enhancers	Lung	lung
15	chr6:29727400-29729600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:29727600-29728600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:29727800-29728600	Enhancers	GM12878-XiMat	blood
18	chr6:29728000-29728600	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:29728000-29729800	Weak transcription	Hela-S3	cervix
20	chr6:29728000-29730400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:29728200-29730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:29728400-29730200	Weak transcription	HUVEC	blood vessel
23	chr6:29728400-29730400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:29728400-29730800	Weak transcription	Spleen	Spleen

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