Variant report

Variant	rs9497707
Chromosome Location	chr6:147443480-147443481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147442930..147446294-chr6:147532679..147536475,3	K562	blood:
2	chr6:147206418..147208548-chr6:147443169..147444927,2	K562	blood:
3	chr6:147443197..147445695-chr6:147447092..147449198,3	K562	blood:
4	chr6:147442873..147445423-chr6:147447092..147450084,3	K562	blood:
5	chr6:147439196..147441349-chr6:147442627..147444720,2	K562	blood:

Variant related genes	Relation type
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1113883	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12661753	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12664201	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12664682	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12664716	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1529012	1.00[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17076610	0.82[CHB][hapmap]
rs2165423	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2328805	0.80[EUR][1000 genomes]
rs58134586	0.84[ASN][1000 genomes]
rs58922329	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59578647	0.81[ASN][1000 genomes]
rs61443164	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6902219	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6904708	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6909582	0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs6913549	0.84[ASN][1000 genomes]
rs6915603	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6917323	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6920262	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6920520	0.84[ASN][1000 genomes]
rs6924985	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6925187	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6925633	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6929579	0.84[ASN][1000 genomes]
rs73588127	0.81[ASN][1000 genomes]
rs73588137	0.84[ASN][1000 genomes]
rs73588149	0.84[ASN][1000 genomes]
rs73590029	0.81[ASN][1000 genomes]
rs7764355	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9322091	1.00[JPT][hapmap]
rs9322092	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9322093	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9485142	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9485144	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9485147	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9485149	1.00[JPT][hapmap]
rs9497695	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9497696	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9497710	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9497715	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9791310	0.84[ASN][1000 genomes]
rs9791311	0.84[ASN][1000 genomes]
rs9885771	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886751	chr6:147354092-147490398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv522096	chr6:147424880-147443480	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv5524	chr6:147428436-147454371	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2609330	chr6:147437606-147444943	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3474303	chr6:147438175-147444589	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv3474304	chr6:147438175-147444589	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv2296134	chr6:147438216-147444616	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv514395	chr6:147438403-147443955	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2422007	chr6:147438506-147444555	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv442013	chr6:147438510-147444555	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv2500763	chr6:147438783-147444969	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147434800-147462800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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