Variant report

Variant	rs10913975
Chromosome Location	chr1:180353237-180353238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180349414..180351217-chr1:180352650..180354645,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10494526	0.94[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10913960	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10913962	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10913963	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10913964	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10913967	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10913977	1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914021	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10914022	0.82[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap]
rs12022629	1.00[EUR][1000 genomes]
rs12037744	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12069143	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12089448	0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12403226	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12404700	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12407684	0.82[CHB][hapmap]
rs12409923	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1341924	1.00[GIH][hapmap]
rs2025593	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2877481	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36088499	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3737584	1.00[GIH][hapmap]
rs4543756	1.00[GIH][hapmap]
rs6425646	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6684596	0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7512134	0.81[GIH][hapmap]
rs878641	0.94[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs912766	1.00[CHB][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
7	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv1009742	chr1:180342203-180385459	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180333000-180356200	Weak transcription	Ovary	ovary
2	chr1:180341200-180401400	Weak transcription	Osteobl	bone
3	chr1:180343600-180356400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:180348200-180382600	Weak transcription	Pancreas	Pancrea
5	chr1:180349400-180356600	Weak transcription	Aorta	Aorta
6	chr1:180349400-180364200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:180349400-180407000	Weak transcription	Esophagus	oesophagus
8	chr1:180350200-180353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:180350200-180353800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:180350800-180353800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:180351200-180354200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:180351600-180378400	Weak transcription	HSMM	muscle
13	chr1:180352400-180353600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:180352400-180353600	Weak transcription	NH-A	brain
15	chr1:180352400-180353800	Weak transcription	Primary B cells from cord blood	blood
16	chr1:180352400-180354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:180352400-180381400	Weak transcription	Hela-S3	cervix
18	chr1:180352800-180356400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:180352800-180399400	Weak transcription	Fetal Thymus	thymus

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