Variant report

Variant	rs1913275
Chromosome Location	chr1:70380052-70380053
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:70379696-70380091	Hela-S3	cervix:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
2	JUND	chr1:70379682-70380143	SK-N-SH	brain:	n/a	chr1:70379883-70379893
3	NFIC	chr1:70379519-70380215	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr1:70379619-70380278	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr1:70379730-70380219	SK-N-SH	brain:	n/a	n/a
6	MAFF	chr1:70379701-70380070	HepG2	liver:	n/a	chr1:70379881-70379895 chr1:70379882-70379900
7	TCF12	chr1:70379634-70380226	SK-N-SH	brain:	n/a	n/a
8	MAFK	chr1:70379693-70380080	IMR90	lung:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
9	MAFK	chr1:70379703-70380073	K562	blood:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
10	MAFK	chr1:70379701-70380078	HepG2	liver:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
11	MAFK	chr1:70379717-70380061	H1-hESC	embryonic stem cell:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
12	GATA3	chr1:70379553-70380222	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr1:70379622-70380104	SK-N-MC	brain:	n/a	n/a
14	PBX3	chr1:70379709-70380183	SK-N-SH	brain:	n/a	n/a
15	EP300	chr1:70379689-70380182	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr1:70379530-70380292	SK-N-SH	brain:	n/a	n/a
17	MAFK	chr1:70379709-70380074	HepG2	liver:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
18	NFIC	chr1:70379620-70380065	SK-N-SH	brain:	n/a	n/a
19	MAFK	chr1:70379604-70380215	GM12878	blood:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
20	MAFF	chr1:70379708-70380065	K562	blood:	n/a	chr1:70379881-70379895 chr1:70379882-70379900

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70356724..70359673-chr1:70379486..70382250,2	K562	blood:

Variant related genes	Relation type
PIN1P1	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1120344	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11209552	0.81[ASN][1000 genomes]
rs12408317	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12566838	0.85[AMR][1000 genomes]
rs12568093	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12725425	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12733263	0.83[ASN][1000 genomes]
rs12735430	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12739761	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12739765	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12739884	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12742152	0.81[ASN][1000 genomes]
rs12742811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12745809	0.86[AMR][1000 genomes]
rs12751773	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12751995	1.00[YRI][hapmap]
rs12752925	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12753235	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12754604	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755858	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12756253	1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12758679	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12758978	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17444982	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1913272	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913273	0.83[ASN][1000 genomes]
rs1938574	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938575	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938579	0.81[ASN][1000 genomes]
rs2025895	1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2025896	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2421316	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35297595	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59350933	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6665026	0.84[AMR][1000 genomes]
rs6687846	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6691577	0.83[ASN][1000 genomes]
rs7512258	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7523425	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7529450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536181	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7536408	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428466	chr1:70306638-70455357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv947491	chr1:70377933-70382966	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70377000-70381200	Enhancers	HUVEC	blood vessel
2	chr1:70377400-70380600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:70377800-70380400	Weak transcription	NHDF-Ad	bronchial
4	chr1:70377800-70380600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:70378400-70380600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:70379200-70380800	Enhancers	Ovary	ovary
7	chr1:70379200-70381000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:70379200-70381000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:70379200-70381600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:70379200-70381600	Enhancers	Fetal Lung	lung
11	chr1:70379400-70380200	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:70379400-70380800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:70379400-70380800	Enhancers	Colon Smooth Muscle	Colon
14	chr1:70379400-70381000	Enhancers	Fetal Stomach	stomach
15	chr1:70379400-70381600	Enhancers	HSMMtube	muscle
16	chr1:70379400-70381600	Enhancers	Osteobl	bone
17	chr1:70379600-70380600	Weak transcription	Small Intestine	intestine
18	chr1:70379600-70381400	Enhancers	Brain Anterior Caudate	brain
19	chr1:70379600-70381400	Enhancers	Brain Hippocampus Middle	brain
20	chr1:70379800-70380200	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:70379800-70380200	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:70379800-70380200	Weak transcription	HSMM	muscle
23	chr1:70379800-70380400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:70379800-70381600	Enhancers	Hela-S3	cervix
25	chr1:70380000-70380200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:70380000-70380200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:70380000-70380200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:70380000-70380200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:70380000-70381200	Enhancers	Adipose Nuclei	Adipose
30	chr1:70380000-70381200	Enhancers	Brain Angular Gyrus	brain
31	chr1:70380000-70381600	Enhancers	NHLF	lung

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