Variant report

Variant	rs3136443
Chromosome Location	chr11:46743334-46743335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46739545-46758468	HepG2	liver:	n/a	n/a
2	HEY1	chr11:46742829-46743493	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:46742822-46743471	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:46742792-46745232	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:46741871..46743470-chr11:46744640..46747616,2	K562	blood:
2	chr11:46721125..46723767-chr11:46740816..46743369,3	K562	blood:
3	chr11:46722213..46727380-chr11:46743173..46747634,5	MCF-7	breast:
4	chr11:46742083..46744335-chr11:46763243..46766196,2	K562	blood:

No data

Variant related genes	Relation type
F2	TF binding region
ENSG00000180210	Chromatin interaction
ENSG00000175213	Chromatin interaction
ENSG00000175220	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10466476	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10466477	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838634	1.00[ASN][1000 genomes]
rs11038985	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038987	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039012	1.00[ASN][1000 genomes]
rs11039015	1.00[ASN][1000 genomes]
rs11822959	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824327	1.00[ASN][1000 genomes]
rs11825434	1.00[ASN][1000 genomes]
rs12273360	1.00[ASN][1000 genomes]
rs12277006	1.00[ASN][1000 genomes]
rs12281784	1.00[ASN][1000 genomes]
rs12287376	1.00[ASN][1000 genomes]
rs12294921	1.00[ASN][1000 genomes]
rs16938534	1.00[ASN][1000 genomes]
rs17787930	1.00[ASN][1000 genomes]
rs2867206	1.00[ASN][1000 genomes]
rs3136433	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136434	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136436	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136439	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136446	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136448	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136467	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136468	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136469	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136472	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136480	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136481	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136482	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136487	0.98[EUR][1000 genomes]
rs3136489	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136496	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136500	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136504	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136521	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128315	1.00[ASN][1000 genomes]
rs4500447	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311746	1.00[ASN][1000 genomes]
rs56331152	1.00[ASN][1000 genomes]
rs57368576	1.00[ASN][1000 genomes]
rs57485117	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5898	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59197251	1.00[ASN][1000 genomes]
rs60940896	1.00[ASN][1000 genomes]
rs61382645	1.00[ASN][1000 genomes]
rs61882744	1.00[ASN][1000 genomes]
rs61882755	1.00[ASN][1000 genomes]
rs61884270	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884297	1.00[ASN][1000 genomes]
rs61884303	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884304	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884305	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884306	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884307	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897302	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897303	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897304	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897308	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61898529	1.00[ASN][1000 genomes]
rs61898531	1.00[ASN][1000 genomes]
rs61899280	1.00[ASN][1000 genomes]
rs61899282	1.00[ASN][1000 genomes]
rs61899283	1.00[ASN][1000 genomes]
rs6485700	1.00[ASN][1000 genomes]
rs6485706	1.00[ASN][1000 genomes]
rs7102325	1.00[ASN][1000 genomes]
rs7102474	1.00[ASN][1000 genomes]
rs7105052	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105172	1.00[ASN][1000 genomes]
rs7105217	1.00[ASN][1000 genomes]
rs7106323	1.00[ASN][1000 genomes]
rs7108147	1.00[ASN][1000 genomes]
rs7111760	1.00[ASN][1000 genomes]
rs7111811	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112060	1.00[ASN][1000 genomes]
rs7112518	1.00[ASN][1000 genomes]
rs7115986	1.00[ASN][1000 genomes]
rs7118097	1.00[ASN][1000 genomes]
rs7120113	1.00[ASN][1000 genomes]
rs7123729	1.00[ASN][1000 genomes]
rs7128102	1.00[ASN][1000 genomes]
rs7129622	1.00[ASN][1000 genomes]
rs73456126	1.00[ASN][1000 genomes]
rs7928445	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938960	1.00[ASN][1000 genomes]
rs7945548	1.00[ASN][1000 genomes]
rs7947517	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9667108	1.00[ASN][1000 genomes]
rs9735937	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv897322	chr11:46739748-46748916	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3474063	chr11:46740876-46745174	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3474074	chr11:46740876-46745174	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46728800-46745600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:46728800-46745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:46740200-46744400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:46740200-46745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:46740200-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:46740400-46745600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:46741400-46744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:46741800-46746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:46742000-46745600	Weak transcription	A549	lung
11	chr11:46743000-46744400	Transcr. at gene 5' and 3'	Liver	Liver
12	chr11:46743200-46744200	Genic enhancers	HepG2	liver

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