Variant report

Variant	rs12145617
Chromosome Location	chr1:224779483-224779484
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224778814..224780539-chr1:224784357..224786736,2	K562	blood:
2	chr1:224772952..224775800-chr1:224777887..224779617,2	K562	blood:

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1002131	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10799586	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10916644	0.90[EUR][1000 genomes]
rs10916645	0.90[EUR][1000 genomes]
rs10916647	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916648	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916649	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10916655	0.94[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10916656	0.84[AFR][1000 genomes]
rs12042245	0.93[EUR][1000 genomes]
rs12042501	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12044182	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12044602	0.93[EUR][1000 genomes]
rs12046431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12047290	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12134248	0.90[EUR][1000 genomes]
rs12136356	0.88[EUR][1000 genomes]
rs1909442	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2173526	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2405312	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653590	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4654048	0.90[EUR][1000 genomes]
rs4654050	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4654053	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4654054	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4654059	0.84[AFR][1000 genomes]
rs57674260	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59391065	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61825844	0.83[EUR][1000 genomes]
rs6426142	0.93[EUR][1000 genomes]
rs6667012	0.90[EUR][1000 genomes]
rs6681385	0.90[EUR][1000 genomes]
rs6696059	0.90[EUR][1000 genomes]
rs873691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs883114	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9919286	0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3442947	chr1:224776590-224780847	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224753600-224780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224767400-224779600	Weak transcription	HMEC	breast
3	chr1:224767600-224779800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224767800-224780200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:224768000-224780400	Weak transcription	Psoas Muscle	Psoas
6	chr1:224768800-224779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:224776800-224780400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:224777000-224780400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:224777200-224780200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:224777200-224780200	Weak transcription	HSMMtube	muscle
11	chr1:224777200-224780200	Weak transcription	NHDF-Ad	bronchial
12	chr1:224777200-224782200	Weak transcription	Aorta	Aorta
13	chr1:224777400-224780400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:224777400-224780400	Weak transcription	Osteobl	bone
15	chr1:224777400-224782000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:224777400-224782200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:224777400-224782200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:224777600-224780400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:224777600-224782200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:224779000-224779600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:224779000-224779600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:224779000-224781200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:224779200-224779600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:224779200-224781200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:224779400-224779600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:224779400-224780600	Enhancers	NH-A	brain
27	chr1:224779400-224781200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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