Variant report

Variant	rs57134963
Chromosome Location	chr11:67431681-67431682
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67429651..67432390-chr11:67432660..67434764,2	K562	blood:
2	chr11:67395813..67399486-chr11:67427985..67432417,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167799	Chromatin interaction
ENSG00000132746	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10896175	1.00[EUR][1000 genomes]
rs11227804	1.00[EUR][1000 genomes]
rs11821703	1.00[EUR][1000 genomes]
rs12272679	1.00[AMR][1000 genomes]
rs12285813	1.00[AMR][1000 genomes]
rs12288316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293606	1.00[EUR][1000 genomes]
rs1382089	1.00[EUR][1000 genomes]
rs1618605	1.00[EUR][1000 genomes]
rs1620333	1.00[EUR][1000 genomes]
rs1624189	1.00[EUR][1000 genomes]
rs1625032	1.00[EUR][1000 genomes]
rs1625892	1.00[EUR][1000 genomes]
rs1630068	1.00[EUR][1000 genomes]
rs1632616	1.00[EUR][1000 genomes]
rs1638575	1.00[EUR][1000 genomes]
rs1638576	1.00[EUR][1000 genomes]
rs1638577	1.00[EUR][1000 genomes]
rs1638581	1.00[EUR][1000 genomes]
rs1638584	1.00[EUR][1000 genomes]
rs1790736	1.00[EUR][1000 genomes]
rs1790741	1.00[EUR][1000 genomes]
rs1790743	1.00[EUR][1000 genomes]
rs1790745	1.00[EUR][1000 genomes]
rs1824712	1.00[EUR][1000 genomes]
rs2054409	1.00[EUR][1000 genomes]
rs2447590	1.00[EUR][1000 genomes]
rs2447591	1.00[EUR][1000 genomes]
rs2447593	0.82[ASN][1000 genomes]
rs2447597	1.00[EUR][1000 genomes]
rs2511058	1.00[EUR][1000 genomes]
rs2511059	1.00[EUR][1000 genomes]
rs2514013	1.00[EUR][1000 genomes]
rs2514014	1.00[EUR][1000 genomes]
rs2514015	1.00[EUR][1000 genomes]
rs2514024	1.00[EUR][1000 genomes]
rs2514045	1.00[EUR][1000 genomes]
rs2514058	0.82[ASN][1000 genomes]
rs2514060	0.82[ASN][1000 genomes]
rs2514064	1.00[EUR][1000 genomes]
rs2514262	1.00[EUR][1000 genomes]
rs2885171	1.00[EUR][1000 genomes]
rs3016861	1.00[EUR][1000 genomes]
rs36052107	1.00[EUR][1000 genomes]
rs3741177	1.00[ASN][1000 genomes]
rs5019164	1.00[EUR][1000 genomes]
rs56050553	1.00[EUR][1000 genomes]
rs56102510	1.00[EUR][1000 genomes]
rs56405884	1.00[EUR][1000 genomes]
rs57047868	1.00[EUR][1000 genomes]
rs57749415	1.00[EUR][1000 genomes]
rs57757103	1.00[EUR][1000 genomes]
rs57955602	1.00[EUR][1000 genomes]
rs59500232	1.00[EUR][1000 genomes]
rs596431	1.00[EUR][1000 genomes]
rs596944	1.00[EUR][1000 genomes]
rs601363	1.00[EUR][1000 genomes]
rs60136955	1.00[EUR][1000 genomes]
rs60251934	1.00[EUR][1000 genomes]
rs602720	1.00[EUR][1000 genomes]
rs604540	1.00[EUR][1000 genomes]
rs60521870	1.00[EUR][1000 genomes]
rs611697	1.00[EUR][1000 genomes]
rs61282424	1.00[EUR][1000 genomes]
rs61429992	1.00[EUR][1000 genomes]
rs61610719	1.00[EUR][1000 genomes]
rs618633	1.00[EUR][1000 genomes]
rs641081	1.00[EUR][1000 genomes]
rs6591267	1.00[EUR][1000 genomes]
rs6591274	0.82[ASN][1000 genomes]
rs7104627	1.00[EUR][1000 genomes]
rs7121803	1.00[EUR][1000 genomes]
rs7124630	1.00[EUR][1000 genomes]
rs73490545	1.00[EUR][1000 genomes]
rs73490554	1.00[EUR][1000 genomes]
rs73506004	1.00[EUR][1000 genomes]
rs73506015	1.00[EUR][1000 genomes]
rs73506054	1.00[EUR][1000 genomes]
rs73506056	1.00[EUR][1000 genomes]
rs73506069	1.00[EUR][1000 genomes]
rs73506074	1.00[EUR][1000 genomes]
rs743679	1.00[EUR][1000 genomes]
rs7934566	1.00[EUR][1000 genomes]
rs7943880	1.00[AMR][1000 genomes]
rs7947114	1.00[EUR][1000 genomes]
rs8191436	1.00[EUR][1000 genomes]
rs8191446	1.00[EUR][1000 genomes]
rs8191449	1.00[EUR][1000 genomes]
rs949250	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
4	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
9	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
11	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
12	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
13	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
14	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
15	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
16	nsv897816	chr11:67353579-67460529	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
17	nsv1041887	chr11:67357365-67464893	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
18	nsv541080	chr11:67357365-67464893	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
19	nsv529452	chr11:67358204-67465721	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
20	nsv492253	chr11:67358204-67574402	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
21	nsv1043487	chr11:67360899-67662476	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
22	nsv468608	chr11:67372477-67433869	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
23	nsv555271	chr11:67372477-67433869	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
24	nsv897820	chr11:67372477-67460529	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
25	nsv897822	chr11:67378594-67441553	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
26	nsv897823	chr11:67378594-67460529	Enhancers Bivalent Enhancer Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
27	nsv897825	chr11:67381110-67460529	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
28	nsv468609	chr11:67395714-67433869	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
29	nsv555273	chr11:67395714-67433869	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
30	nsv469963	chr11:67395714-67438195	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
31	nsv897826	chr11:67408791-67462549	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
32	esv1812708	chr11:67414492-67441553	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67427000-67433000	Weak transcription	Stomach Mucosa	stomach
2	chr11:67427000-67433800	Weak transcription	Dnd41	blood
3	chr11:67429400-67433000	Strong transcription	Placenta	Placenta
4	chr11:67430000-67433000	Strong transcription	Esophagus	oesophagus
5	chr11:67430600-67440800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:67430800-67435200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:67431200-67433200	Weak transcription	Fetal Thymus	thymus
8	chr11:67431200-67437800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:67431400-67431800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:67431400-67432000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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