Variant report

Variant	rs12680337
Chromosome Location	chr8:9308933-9308934
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	TCF7L2	chr8:9308767-9309246	HepG2	liver:	n/a	chr8:9309025-9309039
2	FOXA1	chr8:9308674-9309167	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:9308280-9309005	HepG2	liver:	n/a	n/a
4	HDAC2	chr8:9308916-9309119	HepG2	liver:	n/a	n/a
5	NFIC	chr8:9308719-9309224	HepG2	liver:	n/a	n/a
6	BHLHE40	chr8:9308092-9309235	HepG2	liver:	n/a	n/a
7	HNF4A	chr8:9308807-9309139	HepG2	liver:	n/a	chr8:9309023-9309038 chr8:9309024-9309032 chr8:9309023-9309038
8	EP300	chr8:9308726-9309210	HepG2	liver:	n/a	n/a
9	SP1	chr8:9308710-9309227	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:9308180-9309361	HepG2	liver:	n/a	chr8:9309163-9309179
11	REST	chr8:9308814-9309150	HepG2	liver:	n/a	n/a
12	SMC3	chr8:9308732-9309079	HepG2	liver:	n/a	n/a
13	MYBL2	chr8:9308705-9309306	HepG2	liver:	n/a	n/a
14	RXRA	chr8:9308536-9309190	HepG2	liver:	n/a	n/a
15	MAZ	chr8:9308729-9309151	HepG2	liver:	n/a	n/a
16	MXI1	chr8:9308476-9309264	HepG2	liver:	n/a	n/a
17	JUND	chr8:9308761-9309207	HepG2	liver:	n/a	n/a
18	FOXA2	chr8:9308825-9309152	HepG2	liver:	n/a	n/a
19	HNF4G	chr8:9308750-9309300	HepG2	liver:	n/a	chr8:9309024-9309032 chr8:9309023-9309038
20	JUND	chr8:9308866-9309163	HepG2	liver:	n/a	n/a
21	FOXA1	chr8:9308845-9309189	HepG2	liver:	n/a	n/a
22	HNF4G	chr8:9308805-9309118	HepG2	liver:	n/a	chr8:9309024-9309032 chr8:9309023-9309038
23	EP300	chr8:9308210-9309276	HepG2	liver:	n/a	n/a
24	EP300	chr8:9308841-9309116	HepG2	liver:	n/a	n/a
25	MAX	chr8:9308477-9309253	HepG2	liver:	n/a	n/a
26	RCOR1	chr8:9308234-9309019	HepG2	liver:	n/a	n/a
27	HNF4A	chr8:9308792-9309186	HepG2	liver:	n/a	chr8:9309023-9309038 chr8:9309024-9309032 chr8:9309023-9309038
28	HEY1	chr8:9308759-9308987	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000249050	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10503383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12676093	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680899	1.00[EUR][1000 genomes]
rs17149988	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs17150030	1.00[EUR][1000 genomes]
rs17150035	1.00[EUR][1000 genomes]
rs17150054	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17150068	1.00[EUR][1000 genomes]
rs17150074	1.00[EUR][1000 genomes]
rs73527429	0.90[AFR][1000 genomes]
rs7464733	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2764086	chr8:9216584-9334601	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1026506	chr8:9258997-9338042	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1027325	chr8:9264405-9333207	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9307000-9310800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:9308200-9309000	Flanking Active TSS	Liver	Liver
3	chr8:9308600-9309000	Flanking Active TSS	HepG2	liver
4	chr8:9308800-9309000	Enhancers	Fetal Intestine Large	intestine

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