Variant report

Variant	rs7750789
Chromosome Location	chr6:38698513-38698514
allele	C/G
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	REST	chr6:38697949-38698588	SK-N-SH	brain:	n/a	n/a
4	GATA2	chr6:38697876-38698963	SH-SY5Y	brain:	n/a	chr6:38698931-38698944 chr6:38698766-38698774
5	GATA3	chr6:38697904-38698770	SK-N-SH	brain:	n/a	n/a
6	EP300	chr6:38697859-38698764	SK-N-SH_RA	brain:	n/a	chr6:38698620-38698634
7	EP300	chr6:38697916-38698684	SK-N-SH_RA	brain:	n/a	chr6:38698620-38698634
8	TCF12	chr6:38697871-38698716	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr6:38697855-38698768	SK-N-SH	brain:	n/a	n/a
10	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	chr6:38697816..38698558-chr6:38712714..38713251,2	MCF-7	breast:
2	chr6:38693614..38696826-chr6:38697789..38701720,5	K562	blood:

Variant related genes	Relation type
DNAH8	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10484855	1.00[ASN][1000 genomes]
rs11751782	1.00[ASN][1000 genomes]
rs12206711	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212784	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13191302	1.00[ASN][1000 genomes]
rs13196530	1.00[ASN][1000 genomes]
rs13196708	1.00[ASN][1000 genomes]
rs13198900	1.00[ASN][1000 genomes]
rs13199033	1.00[ASN][1000 genomes]
rs13202862	1.00[ASN][1000 genomes]
rs13203443	1.00[ASN][1000 genomes]
rs13207160	1.00[ASN][1000 genomes]
rs13209846	1.00[ASN][1000 genomes]
rs13210334	1.00[ASN][1000 genomes]
rs13212218	1.00[ASN][1000 genomes]
rs13213257	1.00[ASN][1000 genomes]
rs13215896	1.00[ASN][1000 genomes]
rs13217234	1.00[ASN][1000 genomes]
rs13218305	1.00[ASN][1000 genomes]
rs13219252	1.00[ASN][1000 genomes]
rs13219781	1.00[ASN][1000 genomes]
rs1698998	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17544311	1.00[ASN][1000 genomes]
rs17544868	1.00[ASN][1000 genomes]
rs1937782	1.00[ASN][1000 genomes]
rs2654449	1.00[ASN][1000 genomes]
rs28360530	1.00[ASN][1000 genomes]
rs34349982	1.00[ASN][1000 genomes]
rs34360712	1.00[ASN][1000 genomes]
rs34408317	1.00[ASN][1000 genomes]
rs34470929	1.00[ASN][1000 genomes]
rs34519749	1.00[ASN][1000 genomes]
rs34637217	1.00[ASN][1000 genomes]
rs34695044	1.00[ASN][1000 genomes]
rs34897279	1.00[ASN][1000 genomes]
rs34962226	1.00[ASN][1000 genomes]
rs34971977	1.00[ASN][1000 genomes]
rs35147121	1.00[ASN][1000 genomes]
rs35152718	1.00[ASN][1000 genomes]
rs35207097	1.00[ASN][1000 genomes]
rs35266471	1.00[ASN][1000 genomes]
rs35388596	1.00[ASN][1000 genomes]
rs35901431	1.00[ASN][1000 genomes]
rs35975219	1.00[ASN][1000 genomes]
rs67457665	1.00[ASN][1000 genomes]
rs71544423	1.00[ASN][1000 genomes]
rs71571331	1.00[ASN][1000 genomes]
rs71571332	1.00[ASN][1000 genomes]
rs71571336	1.00[ASN][1000 genomes]
rs72856580	1.00[ASN][1000 genomes]
rs73416349	1.00[ASN][1000 genomes]
rs73416350	1.00[ASN][1000 genomes]
rs73416351	1.00[ASN][1000 genomes]
rs7451595	1.00[ASN][1000 genomes]
rs7604	1.00[ASN][1000 genomes]
rs7746400	1.00[ASN][1000 genomes]
rs7762397	1.00[ASN][1000 genomes]
rs963720	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38698000-38698600	Enhancers	Colon Smooth Muscle	Colon
2	chr6:38698000-38698800	Enhancers	Fetal Stomach	stomach
3	chr6:38698200-38698600	Enhancers	Brain Substantia Nigra	brain
4	chr6:38698200-38698800	Enhancers	Brain Hippocampus Middle	brain
5	chr6:38698200-38698800	Enhancers	Fetal Lung	lung
6	chr6:38698200-38698800	Enhancers	Rectal Smooth Muscle	rectum
7	chr6:38698400-38698800	Active TSS	Fetal Brain Male	brain

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