Variant report

Variant	rs12283410
Chromosome Location	chr11:85641955-85641956
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr11:85641826-85642582	HepG2	liver:	n/a	n/a
2	FOXA2	chr11:85641805-85642893	HepG2	liver:	n/a	n/a
3	TEAD4	chr11:85641931-85642585	HepG2	liver:	n/a	n/a
4	ZBTB7A	chr11:85641777-85642437	HepG2	liver:	n/a	n/a
5	MBD4	chr11:85641882-85642457	HepG2	liver:	n/a	n/a
6	FOXA2	chr11:85641921-85642471	HepG2	liver:	n/a	n/a
7	MYBL2	chr11:85641839-85642616	HepG2	liver:	n/a	n/a
8	SP1	chr11:85641903-85642574	HepG2	liver:	n/a	n/a
9	HEY1	chr11:85641833-85642211	HepG2	liver:	n/a	n/a
10	NFIC	chr11:85641871-85642636	HepG2	liver:	n/a	n/a
11	FOXA1	chr11:85641881-85642536	HepG2	liver:	n/a	n/a
12	HNF4A	chr11:85641920-85642575	HepG2	liver:	n/a	chr11:85642293-85642308
13	HDAC2	chr11:85641880-85642510	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:85641887-85642289	HepG2	liver:	n/a	n/a
15	FOXA1	chr11:85641857-85642613	HepG2	liver:	n/a	n/a
16	HDAC2	chr11:85641926-85642525	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:85641859-85642109	HepG2	liver:	n/a	n/a
18	ZBTB7A	chr11:85641887-85642054	HepG2	liver:	n/a	n/a
19	RXRA	chr11:85641944-85642496	HepG2	liver:	n/a	n/a
20	CREB1	chr11:85641810-85642493	HepG2	liver:	n/a	n/a
21	HEY1	chr11:85641918-85642176	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:85641675-85642223	HepG2	liver:	n/a	n/a
23	FOXA1	chr11:85641877-85642512	HepG2	liver:	n/a	n/a
24	EP300	chr11:85641904-85642568	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:85641904-85642163	HepG2	liver:	n/a	n/a
26	HNF4G	chr11:85641947-85642571	HepG2	liver:	n/a	n/a
27	ARID3A	chr11:85641938-85642529	HepG2	liver:	n/a	n/a
28	FOXA1	chr11:85641845-85642607	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
SLC25A1P1	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10501599	0.82[CHB][hapmap]
rs10501601	0.82[CHB][hapmap]
rs11234465	0.82[CHB][hapmap]
rs11234467	0.82[CHB][hapmap]
rs11234479	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234483	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821654	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs12274739	0.82[CHB][hapmap]
rs12274987	1.00[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.81[ASN][1000 genomes]
rs12286312	0.82[CHB][hapmap]
rs12290316	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787412	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs12787418	0.83[ASN][1000 genomes]
rs12787556	0.83[ASN][1000 genomes]
rs12787654	0.83[ASN][1000 genomes]
rs12790645	1.00[CHB][hapmap]
rs12794211	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs12795381	0.85[CEU][hapmap]
rs12795833	0.86[CEU][hapmap]
rs12798065	0.83[ASN][1000 genomes]
rs12802399	0.91[CEU][hapmap]
rs12805520	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs1445508	0.82[CHB][hapmap]
rs17148574	0.82[CHB][hapmap]
rs17148585	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs17148704	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17745024	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs17745409	0.82[CHB][hapmap]
rs17817402	0.82[CHB][hapmap]
rs17817444	0.82[CHB][hapmap]
rs17817648	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs17817931	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs17817992	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs3213934	1.00[CHB][hapmap]
rs34003294	0.83[ASN][1000 genomes]
rs34631477	0.83[ASN][1000 genomes]
rs35220752	0.81[ASN][1000 genomes]
rs35519080	0.83[ASN][1000 genomes]
rs55932210	0.83[ASN][1000 genomes]
rs56191920	0.83[ASN][1000 genomes]
rs66953026	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107303	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107455	0.94[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[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118279	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs71465608	0.83[ASN][1000 genomes]
rs725459	0.82[CHB][hapmap]
rs7926846	0.82[CHB][hapmap]
rs7934759	0.82[CHB][hapmap]
rs9630221	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1053599	chr11:85641619-85684353	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1040567	chr11:85641619-85684935	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 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	chr11:85638400-85645800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:85641200-85645600	Weak transcription	Right Atrium	heart
3	chr11:85641600-85643400	Enhancers	Liver	Liver
4	chr11:85641800-85643600	Enhancers	HepG2	liver

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