Variant report

Variant	rs4129059
Chromosome Location	chr1:214676121-214676122
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	chr1:214673174..214674823-chr1:214674925..214678786,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11801700	0.86[ASN][1000 genomes]
rs12125850	0.83[ASN][1000 genomes]
rs12565465	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12753039	0.83[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17023117	0.81[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap];0.92[ASN][1000 genomes]
rs17023132	0.81[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs28565340	0.88[ASN][1000 genomes]
rs4326598	0.87[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs4465173	0.87[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.83[ASN][1000 genomes]
rs56253402	0.81[ASN][1000 genomes]
rs57047137	0.83[ASN][1000 genomes]
rs58247568	0.83[ASN][1000 genomes]
rs61443257	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6680964	0.93[YRI][hapmap];0.94[ASN][1000 genomes]
rs6683647	0.93[YRI][hapmap];0.95[ASN][1000 genomes]
rs6687162	0.83[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72759615	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759620	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72759626	0.92[ASN][1000 genomes]
rs7533482	0.82[ASW][hapmap];0.81[CHD][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs7541263	0.81[CHD][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][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	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Age-related hearing impairment (interaction)	24939585	GWAS catalog

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214654400-214677400	Weak transcription	Gastric	stomach
2	chr1:214665400-214676600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
4	chr1:214666600-214677600	Weak transcription	Pancreas	Pancrea
5	chr1:214668400-214677600	Weak transcription	Left Ventricle	heart
6	chr1:214668400-214678600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:214668400-214680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:214668600-214677400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
10	chr1:214670000-214676400	Weak transcription	A549	lung
11	chr1:214670000-214677000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:214670000-214677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:214670000-214680000	Weak transcription	NH-A	brain
14	chr1:214671800-214686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:214672000-214677400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:214672600-214677600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:214673800-214677200	Weak transcription	Psoas Muscle	Psoas
18	chr1:214674000-214678600	Weak transcription	Placenta	Placenta
19	chr1:214674200-214677400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:214674200-214685200	Weak transcription	HUVEC	blood vessel
21	chr1:214674200-214687200	Weak transcription	HSMMtube	muscle
22	chr1:214674400-214676400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:214674400-214676800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:214674400-214677200	Weak transcription	HSMM	muscle
25	chr1:214674400-214678200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:214674400-214678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:214674400-214679400	Weak transcription	HMEC	breast
28	chr1:214674400-214680000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:214674400-214685000	Weak transcription	Fetal Stomach	stomach
30	chr1:214674600-214676800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:214674600-214676800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:214674600-214677000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:214674600-214677400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:214674600-214677600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:214674600-214677800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:214674600-214677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:214674600-214678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:214674600-214678400	Weak transcription	Ovary	ovary
39	chr1:214674600-214678600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:214674600-214678800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:214674600-214680000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:214674600-214680200	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:214674600-214686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:214674800-214676800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:214674800-214677600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:214675000-214677200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:214675000-214677400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:214675000-214677600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:214675000-214677600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:214675000-214678000	Weak transcription	NHLF	lung

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