Variant report

Variant	rs56076781
Chromosome Location	chr18:12038913-12038914
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11732649..11733675-chr18:12038633..12039652,5	MCF-7	breast:
2	chr18:11655388..11656100-chr18:12038645..12039575,5	K562	blood:
3	chr18:11937505..11938532-chr18:12038635..12039615,5	MCF-7	breast:
4	chr18:11992964..11995381-chr18:12038056..12040567,2	MCF-7	breast:
5	chr18:11654951..11655937-chr18:12038618..12039570,4	MCF-7	breast:
6	chr18:11732574..11733777-chr18:12038625..12039612,8	K562	blood:
7	chr18:11937557..11938334-chr18:12038177..12039385,5	K562	blood:

Variant related genes	Relation type
ENSG00000266955	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1036903	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1036904	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1250171	0.87[ASN][1000 genomes]
rs1530368	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1662607	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1662612	0.93[ASN][1000 genomes]
rs1662613	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1964436	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2075826	0.88[ASN][1000 genomes]
rs2849393	0.81[ASN][1000 genomes]
rs2849418	0.81[ASN][1000 genomes]
rs2849420	0.81[ASN][1000 genomes]
rs2851901	0.81[ASN][1000 genomes]
rs2851902	0.81[ASN][1000 genomes]
rs2851915	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2851916	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851928	0.89[ASN][1000 genomes]
rs2851930	0.83[ASN][1000 genomes]
rs4797613	0.81[ASN][1000 genomes]
rs4797615	0.81[ASN][1000 genomes]
rs583965	0.86[ASN][1000 genomes]
rs594235	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs596081	0.91[ASN][1000 genomes]
rs596142	0.92[ASN][1000 genomes]
rs597072	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs597094	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs597147	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs597965	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs597973	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs598005	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs609104	0.92[ASN][1000 genomes]
rs609588	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs613993	0.88[ASN][1000 genomes]
rs627448	0.94[ASN][1000 genomes]
rs627492	0.88[ASN][1000 genomes]
rs640088	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs655840	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs656193	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs674758	0.85[ASN][1000 genomes]
rs687869	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12036400-12039400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:12038200-12039000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr18:12038200-12039000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:12038200-12039000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:12038200-12039000	Enhancers	Fetal Brain Male	brain
6	chr18:12038200-12039000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr18:12038200-12039000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr18:12038200-12039000	Active TSS	NH-A	brain
9	chr18:12038200-12039200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:12038200-12039200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr18:12038200-12039200	Active TSS	Brain Anterior Caudate	brain
12	chr18:12038200-12039200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr18:12038200-12039200	Flanking Active TSS	Colonic Mucosa	Colon
14	chr18:12038200-12039200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr18:12038200-12039400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:12038200-12039400	Active TSS	Fetal Brain Female	brain
17	chr18:12038200-12039400	Enhancers	Fetal Heart	heart
18	chr18:12038200-12039400	Active TSS	Rectal Smooth Muscle	rectum
19	chr18:12038200-12039400	Enhancers	Spleen	Spleen
20	chr18:12038400-12039000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:12038400-12039000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:12038400-12039000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr18:12038400-12039000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:12038400-12039000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr18:12038400-12039000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr18:12038400-12039000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
27	chr18:12038400-12039000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
28	chr18:12038400-12039000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:12038400-12039000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:12038400-12039000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr18:12038400-12039000	Active TSS	Aorta	Aorta
32	chr18:12038400-12039000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr18:12038400-12039000	Flanking Active TSS	Right Ventricle	heart
34	chr18:12038400-12039200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr18:12038400-12039200	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr18:12038400-12039200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr18:12038400-12039200	Active TSS	Brain Angular Gyrus	brain
38	chr18:12038400-12039200	Active TSS	Brain Hippocampus Middle	brain
39	chr18:12038400-12039200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr18:12038400-12039200	Active TSS	Brain Substantia Nigra	brain
41	chr18:12038400-12039200	Active TSS	Colon Smooth Muscle	Colon
42	chr18:12038400-12039200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr18:12038400-12039200	Bivalent/Poised TSS	Thymus	Thymus
44	chr18:12038400-12039200	Flanking Active TSS	HMEC	breast
45	chr18:12038400-12039200	Active TSS	Osteobl	bone
46	chr18:12038400-12039400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr18:12038600-12039000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr18:12038600-12039000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr18:12038600-12039000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr18:12038600-12039200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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