Variant report

Variant	rs1737076
Chromosome Location	chr6:29725321-29725322
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	chr6:29718286..29720439-chr6:29724711..29726723,2	K562	blood:
2	chr6:29725320..29727210-chr6:29727863..29730824,2	K562	blood:

Variant related genes	Relation type
ENSG00000272236	Chromatin interaction
ENSG00000235821	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1610624	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1611296	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1625695	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633044	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1633059	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1633065	0.81[ASN][1000 genomes]
rs1633081	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1633082	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1633083	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1633086	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1633087	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1633090	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1737078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737082	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1737086	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713243	0.89[ASN][1000 genomes]
rs4947236	0.89[ASN][1000 genomes]
rs733839	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9258275	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1737076	FLJ35429	cis	multi-tissue	Pritchard
rs1737076	VARSL	cis	multi-tissue	Pritchard
rs1737076	BTN3A2	cis	parietal	SCAN
rs1737076	ZKSCAN3	cis	parietal	SCAN
rs1737076	HIST1H2BB	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29721600-29725400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:29721600-29729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:29721800-29725400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:29721800-29725400	Weak transcription	Hela-S3	cervix
5	chr6:29721800-29725400	Weak transcription	HMEC	breast
6	chr6:29723000-29728600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:29723200-29728600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:29723200-29728600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr6:29723200-29728600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:29723600-29725400	Weak transcription	K562	blood
11	chr6:29723600-29726800	Weak transcription	Spleen	Spleen
12	chr6:29723600-29728000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:29723800-29725400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:29723800-29725400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:29724200-29726800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:29724200-29728000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr6:29724200-29728400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:29724200-29728600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:29724200-29728600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:29724600-29725400	Enhancers	Liver	Liver
21	chr6:29724800-29725400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:29725000-29727600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:29725200-29725800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:29725200-29728200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:29725200-29728400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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