Variant report

Variant	rs4443534
Chromosome Location	chr6:117976376-117976377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117922027..117923710-chr6:117974781..117977096,2	K562	blood:
2	chr6:117975355..117979268-chr6:117992487..117995744,5	K562	blood:
3	chr6:117921314..117923710-chr6:117975596..117977707,2	K562	blood:

Variant related genes	Relation type
ENSG00000047932	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11153678	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11153686	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11153687	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11153689	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12665677	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1472591	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17079404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs210616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs210621	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs210627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs210628	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs210629	0.85[EUR][1000 genomes]
rs210631	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs210632	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs210634	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs210636	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs210638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs210643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28650886	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs389663	0.82[CEU][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs56314470	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60541940	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62430987	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62430988	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62430989	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62431047	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62431051	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62431052	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9320611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9372483	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9374675	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9387489	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9387490	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9387496	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9387497	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9401015	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9401016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9401017	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9689424	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9689787	0.89[YRI][hapmap]
rs9689805	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9689889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv5449	chr6:117954646-117999751	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4443534	DCBLD1	cis	parietal	SCAN
rs4443534	MCM9	cis	parietal	SCAN
rs4443534	CARM1	trans	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117961600-117981800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:117962200-117985400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:117963400-117981800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:117969400-117995800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:117971800-117989800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:117973000-117990600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:117973800-117995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:117975200-117976600	Enhancers	K562	blood
9	chr6:117975200-117979800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:117975600-117986200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:117976000-117977000	Enhancers	Thymus	Thymus
12	chr6:117976000-117977400	Enhancers	Fetal Thymus	thymus
13	chr6:117976200-117977000	Enhancers	Dnd41	blood
14	chr6:117976200-117977600	Enhancers	Primary T cells from cord blood	blood

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