Variant report

Variant	rs56051540
Chromosome Location	chr1:120156014-120156015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120154731..120156704-chr1:120158612..120160451,2	MCF-7	breast:
2	chr1:120155133..120157085-chr1:120217009..120218744,10	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10802119	0.87[EUR][1000 genomes]
rs10802125	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923868	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923870	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923872	0.92[EUR][1000 genomes]
rs10923873	0.90[EUR][1000 genomes]
rs10923874	0.87[EUR][1000 genomes]
rs10923876	0.90[EUR][1000 genomes]
rs11586489	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119140	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121447	1.00[ASN][1000 genomes]
rs12127605	1.00[ASN][1000 genomes]
rs12129705	1.00[ASN][1000 genomes]
rs12139088	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144094	1.00[ASN][1000 genomes]
rs17258348	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34662109	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35821663	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077553	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481896	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4659210	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4659212	0.90[EUR][1000 genomes]
rs56096705	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689350	0.90[EUR][1000 genomes]
rs72695107	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695109	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695117	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695123	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv946186	chr1:120091427-120161787	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv2756860	chr1:120098661-120162442	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv999314	chr1:120098719-120156465	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv463317	chr1:120107602-120162787	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv547618	chr1:120107602-120162787	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1005272	chr1:120125308-120156051	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3379396	chr1:120126720-120157658	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv2754874	chr1:120126990-120156051	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1010583	chr1:120126990-120156465	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv999291	chr1:120129344-120156465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv872179	chr1:120131597-120162787	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120115200-120160800	Weak transcription	Gastric	stomach
2	chr1:120139800-120156600	Weak transcription	Left Ventricle	heart
3	chr1:120146200-120165000	Weak transcription	Aorta	Aorta
4	chr1:120147000-120156600	Weak transcription	Right Ventricle	heart
5	chr1:120147400-120160800	Weak transcription	Psoas Muscle	Psoas
6	chr1:120149400-120156200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:120149600-120160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:120149800-120156600	Weak transcription	Right Atrium	heart
9	chr1:120150200-120159200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:120151000-120156600	Weak transcription	Fetal Lung	lung
11	chr1:120151200-120159200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:120151200-120160400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:120152200-120167800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:120152400-120156600	Weak transcription	HUVEC	blood vessel
15	chr1:120153200-120156600	Weak transcription	Placenta	Placenta
16	chr1:120153200-120164400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:120153400-120160800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:120154400-120156200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:120154400-120156600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:120154400-120158800	Weak transcription	GM12878-XiMat	blood
21	chr1:120154400-120163400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:120154400-120167400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:120154600-120156200	Weak transcription	Fetal Heart	heart
24	chr1:120154600-120156200	Weak transcription	NHEK	skin
25	chr1:120154600-120159200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:120154600-120163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:120154600-120164200	Weak transcription	Fetal Intestine Large	intestine
28	chr1:120154600-120165000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:120154600-120165000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:120154600-120165000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:120154800-120156600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:120154800-120156600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:120154800-120156600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:120154800-120160200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:120154800-120164200	Weak transcription	Liver	Liver
36	chr1:120154800-120164600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:120154800-120164800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:120154800-120165000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:120154800-120165200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:120154800-120165400	Weak transcription	Fetal Brain Male	brain
41	chr1:120154800-120173600	Weak transcription	Brain Anterior Caudate	brain
42	chr1:120155200-120164200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:120156000-120157200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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