Variant report

Variant	rs56207586
Chromosome Location	chr1:171455887-171455888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171449334..171452754-chr1:171452810..171456877,5	K562	blood:
2	chr1:171405355..171408089-chr1:171454758..171456497,2	MCF-7	breast:
3	chr1:171453211..171456610-chr1:171708836..171712780,4	K562	blood:
4	chr1:171449410..171451511-chr1:171453744..171456150,2	MCF-7	breast:
5	chr1:171454829..171458429-chr1:171468344..171472224,4	MCF-7	breast:
6	chr1:171453426..171457241-chr1:171461305..171463614,3	MCF-7	breast:
7	chr1:171455198..171457522-chr1:171482757..171484309,2	MCF-7	breast:
8	chr1:171454832..171457416-chr1:171532662..171535516,2	MCF-7	breast:
9	chr1:169861616..169864007-chr1:171455760..171457373,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239373	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000000457	Chromatin interaction
ENSG00000238859	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1055417	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913167	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12119596	0.90[ASN][1000 genomes]
rs12129856	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131694	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12136576	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12137832	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12139715	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12142594	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12145045	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12145085	0.82[EUR][1000 genomes]
rs12146022	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12733939	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734261	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12759907	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294292	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294293	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235471	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235472	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235488	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs235495	0.83[EUR][1000 genomes]
rs235498	0.83[EUR][1000 genomes]
rs235502	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs235507	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs235886	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs235892	0.80[EUR][1000 genomes]
rs235895	0.80[EUR][1000 genomes]
rs235910	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs235911	0.80[EUR][1000 genomes]
rs235912	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs71637410	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71637418	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71637419	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74122850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534464	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7534557	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7538745	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171453600-171456000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:171453600-171456000	Active TSS	A549	lung
3	chr1:171453600-171456200	Active TSS	NHLF	lung
4	chr1:171453600-171456400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:171453600-171457400	Active TSS	GM12878-XiMat	blood
6	chr1:171453600-171458200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:171453800-171456000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:171453800-171456000	Active TSS	Muscle Satellite Cultured Cells	--
9	chr1:171453800-171456000	Active TSS	Colonic Mucosa	Colon
10	chr1:171453800-171456000	Active TSS	Fetal Kidney	kidney
11	chr1:171453800-171456000	Active TSS	Fetal Lung	lung
12	chr1:171453800-171456000	Active TSS	NH-A	brain
13	chr1:171453800-171456200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:171453800-171456200	Active TSS	HSMM	muscle
15	chr1:171453800-171456400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:171453800-171456400	Active TSS	Ovary	ovary
17	chr1:171453800-171456400	Active TSS	HSMMtube	muscle
18	chr1:171453800-171456600	Active TSS	Psoas Muscle	Psoas
19	chr1:171453800-171456600	Active TSS	Right Ventricle	heart
20	chr1:171453800-171457600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:171454000-171456000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:171454000-171456000	Active TSS	Fetal Brain Male	brain
23	chr1:171454000-171456000	Active TSS	Fetal Intestine Large	intestine
24	chr1:171454000-171456000	Active TSS	Fetal Intestine Small	intestine
25	chr1:171454000-171456000	Active TSS	Placenta	Placenta
26	chr1:171454000-171456000	Active TSS	Placenta Amnion	Placenta Amnion
27	chr1:171454000-171456000	Active TSS	NHEK	skin
28	chr1:171454000-171456200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:171454000-171456200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:171454000-171456200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:171454000-171456200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:171454000-171456200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:171454000-171456200	Active TSS	Fetal Muscle Trunk	muscle
34	chr1:171454000-171456200	Active TSS	Left Ventricle	heart
35	chr1:171454000-171456400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:171454000-171456400	Active TSS	Aorta	Aorta
37	chr1:171454000-171456600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:171454000-171456600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:171454000-171456600	Active TSS	NHDF-Ad	bronchial
40	chr1:171454000-171457000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr1:171454000-171457800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:171454200-171456000	Active TSS	Pancreas	Pancrea
43	chr1:171454200-171456000	Active TSS	Small Intestine	intestine
44	chr1:171454200-171456000	Active TSS	Stomach Smooth Muscle	stomach
45	chr1:171454200-171456000	Active TSS	Hela-S3	cervix
46	chr1:171454200-171456000	Active TSS	HMEC	breast
47	chr1:171454200-171456200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:171454200-171456200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr1:171454200-171456200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:171454200-171456400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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