Variant report

Variant	rs12734750
Chromosome Location	chr1:166141184-166141185
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	chr1:166135605..166138468-chr1:166140855..166143824,3	K562	blood:
2	chr1:166127346..166129390-chr1:166139728..166141681,2	K562	blood:

Variant related genes	Relation type
ENSG00000188859	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10494453	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10494455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10494456	0.81[ASN][1000 genomes]
rs10753713	0.81[ASN][1000 genomes]
rs10753714	0.81[ASN][1000 genomes]
rs10800198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10800199	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800200	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800202	0.81[ASN][1000 genomes]
rs10918381	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918383	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10918384	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10918385	0.93[EUR][1000 genomes]
rs10918387	0.81[ASN][1000 genomes]
rs10918388	0.81[ASN][1000 genomes]
rs12023523	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12028067	0.81[ASN][1000 genomes]
rs12031538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12076837	0.83[JPT][hapmap];0.93[EUR][1000 genomes]
rs12126834	0.93[EUR][1000 genomes]
rs12136704	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12144426	0.93[EUR][1000 genomes]
rs12402371	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409766	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432119	0.93[EUR][1000 genomes]
rs1529642	0.93[EUR][1000 genomes]
rs1530889	0.93[EUR][1000 genomes]
rs1551179	0.95[EUR][1000 genomes]
rs1560570	0.80[ASN][1000 genomes]
rs16856734	0.81[ASN][1000 genomes]
rs1864791	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2116519	0.82[JPT][hapmap];0.92[EUR][1000 genomes]
rs28568389	0.81[ASN][1000 genomes]
rs4147072	0.81[ASN][1000 genomes]
rs4391646	0.80[ASN][1000 genomes]
rs4556335	0.81[ASN][1000 genomes]
rs4656481	0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs4656484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657530	0.93[EUR][1000 genomes]
rs61835144	0.82[ASN][1000 genomes]
rs61835149	0.81[ASN][1000 genomes]
rs61835150	0.81[ASN][1000 genomes]
rs61835151	0.81[ASN][1000 genomes]
rs6658248	0.82[ASN][1000 genomes]
rs6658513	0.82[ASN][1000 genomes]
rs6681924	0.82[JPT][hapmap];0.94[EUR][1000 genomes]
rs6696964	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700193	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs715421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs724139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7548172	1.00[CEU][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes]
rs7552225	0.81[ASN][1000 genomes]
rs9787101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9787239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166136800-166145200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:166137000-166142600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:166137000-166142800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:166137000-166143600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:166137000-166144000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:166137600-166141800	Enhancers	GM12878-XiMat	blood
7	chr1:166139200-166141200	Enhancers	Brain Hippocampus Middle	brain
8	chr1:166139600-166142400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:166139600-166142400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:166139600-166142600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:166139600-166142800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:166139800-166142400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:166140000-166141200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:166140000-166142000	Enhancers	HMEC	breast
15	chr1:166140000-166142600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:166140200-166142800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:166140400-166141400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:166140400-166143600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:166140600-166141600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:166140800-166143400	Weak transcription	Gastric	stomach
21	chr1:166141000-166141400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
22	chr1:166141000-166141800	Enhancers	Pancreas	Pancrea
23	chr1:166141000-166141800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:166141000-166142000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:166141000-166142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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