Variant report

Variant	rs72856596
Chromosome Location	chr6:38690106-38690107
allele	A/C
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	FOS	chr6:38689864-38690110	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr6:38689786-38690251	HEK293	kidney:	n/a	n/a
3	GATA3	chr6:38689851-38690169	T-47D	breast:	n/a	n/a
4	GATA3	chr6:38689772-38690238	T-47D	breast:	n/a	n/a
5	FOXA1	chr6:38689807-38690139	T-47D	breast:	n/a	chr6:38689987-38689999
6	FOXA1	chr6:38689815-38690108	T-47D	breast:	n/a	chr6:38689987-38689999
7	JUND	chr6:38689809-38690183	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38670885..38672648-chr6:38689794..38692471,2	K562	blood:

Variant related genes	Relation type
DNAH8	TF binding region
ENSG00000124767	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11751371	1.00[ASN][1000 genomes]
rs11756771	1.00[ASN][1000 genomes]
rs12192604	1.00[ASN][1000 genomes]
rs12192779	1.00[ASN][1000 genomes]
rs12192848	1.00[ASN][1000 genomes]
rs12193813	1.00[ASN][1000 genomes]
rs12194119	1.00[ASN][1000 genomes]
rs12197353	1.00[ASN][1000 genomes]
rs12197467	1.00[ASN][1000 genomes]
rs12206059	1.00[ASN][1000 genomes]
rs12209734	1.00[ASN][1000 genomes]
rs12215108	1.00[ASN][1000 genomes]
rs17552381	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17552881	1.00[ASN][1000 genomes]
rs17623162	1.00[ASN][1000 genomes]
rs2092550	1.00[ASN][1000 genomes]
rs4279429	1.00[ASN][1000 genomes]
rs45578845	1.00[ASN][1000 genomes]
rs55902132	1.00[ASN][1000 genomes]
rs55933840	1.00[ASN][1000 genomes]
rs56093987	1.00[ASN][1000 genomes]
rs56148146	1.00[ASN][1000 genomes]
rs56246807	1.00[ASN][1000 genomes]
rs56266437	1.00[ASN][1000 genomes]
rs56284095	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56323406	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[ASN][1000 genomes]
rs72856585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72856597	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72856598	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858234	1.00[ASN][1000 genomes]
rs72858240	1.00[ASN][1000 genomes]
rs72858280	1.00[ASN][1000 genomes]
rs72858282	1.00[ASN][1000 genomes]
rs72858286	1.00[ASN][1000 genomes]
rs72858288	1.00[ASN][1000 genomes]
rs72858292	1.00[ASN][1000 genomes]
rs72858299	1.00[ASN][1000 genomes]
rs7773144	1.00[ASN][1000 genomes]
rs991766	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72856596	DNAH8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38688600-38693200	Weak transcription	HUVEC	blood vessel
2	chr6:38689000-38690200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:38689400-38690400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:38690000-38690200	Enhancers	K562	blood

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