Variant report

Variant	rs17552381
Chromosome Location	chr6:38698777-38698778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:38697596-38699623	SK-N-SH	brain:	n/a	chr6:38698620-38698634 chr6:38697653-38697667
2	TCF12	chr6:38697834-38698799	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr6:38697876-38698963	SH-SY5Y	brain:	n/a	chr6:38698931-38698944 chr6:38698766-38698774
4	GATA3	chr6:38697854-38698972	SH-SY5Y	brain:	n/a	chr6:38698931-38698944 chr6:38698766-38698774

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38693614..38696826-chr6:38697789..38701720,5	K562	blood:

Variant related genes	Relation type
DNAH8	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11751371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756771	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11758334	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12192604	1.00[ASN][1000 genomes]
rs12192779	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12192848	1.00[ASN][1000 genomes]
rs12193813	1.00[ASN][1000 genomes]
rs12194119	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12197353	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12197467	1.00[ASN][1000 genomes]
rs12206059	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12209734	1.00[ASN][1000 genomes]
rs12215108	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1738248	1.00[CHB][hapmap]
rs17552881	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17623162	1.00[CHB][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17632688	1.00[CHB][hapmap]
rs2092550	1.00[ASN][1000 genomes]
rs4279429	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs45578845	1.00[ASN][1000 genomes]
rs55902132	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55933840	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56093987	1.00[ASN][1000 genomes]
rs56148146	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56246807	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56266437	1.00[ASN][1000 genomes]
rs56284095	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56323406	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62396392	1.00[ASN][1000 genomes]
rs62396394	1.00[ASN][1000 genomes]
rs62396399	1.00[ASN][1000 genomes]
rs62396403	1.00[ASN][1000 genomes]
rs62396404	1.00[ASN][1000 genomes]
rs62396406	1.00[ASN][1000 genomes]
rs62396408	1.00[ASN][1000 genomes]
rs6933930	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72856585	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72856596	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72856597	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72856598	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858204	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72858234	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858240	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858280	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858282	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858286	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858288	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858292	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858299	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7773144	1.00[ASN][1000 genomes]
rs991766	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3474723	chr6:38696177-38701061	Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3486100	chr6:38696187-38701063	Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3474724	chr6:38696191-38701061	Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3486101	chr6:38696191-38701061	Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17552381	ZFAND3	cis	cerebellum	SCAN
rs17552381	DNAH8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38698000-38698800	Enhancers	Fetal Stomach	stomach
2	chr6:38698200-38698800	Enhancers	Brain Hippocampus Middle	brain
3	chr6:38698200-38698800	Enhancers	Fetal Lung	lung
4	chr6:38698200-38698800	Enhancers	Rectal Smooth Muscle	rectum
5	chr6:38698400-38698800	Active TSS	Fetal Brain Male	brain

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