Variant report

Variant	rs73348319
Chromosome Location	chr6:4869923-4869924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4864258..4867257-chr6:4869047..4871548,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs13199417	0.86[ASN][1000 genomes]
rs13212871	0.86[ASN][1000 genomes]
rs1557032	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17138859	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17138931	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17138959	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17138966	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2235429	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2326553	0.86[ASN][1000 genomes]
rs4376391	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56278978	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58368827	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60609172	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60949901	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61278797	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6916304	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6916467	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6919412	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73348345	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73348361	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73362530	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73362564	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73364523	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73364567	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73364571	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7743735	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7768749	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs811251	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs947151	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9502239	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9502244	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9502247	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9502248	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9502249	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9502250	0.86[ASN][1000 genomes]
rs9502251	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9504262	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9504267	0.90[ASN][1000 genomes]
rs9504269	1.00[EUR][1000 genomes]
rs9504270	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9504271	1.00[EUR][1000 genomes]
rs9504275	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9504281	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9504284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9504286	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4847400-4871000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:4854000-4870400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:4854400-4870800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:4854600-4871200	Weak transcription	NH-A	brain
5	chr6:4855200-4882200	Weak transcription	Fetal Stomach	stomach
6	chr6:4856800-4883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:4858800-4880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:4859000-4876600	Weak transcription	Ovary	ovary
9	chr6:4859600-4870200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:4859600-4870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:4859600-4871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:4859800-4870800	Weak transcription	NHEK	skin
13	chr6:4859800-4871000	Weak transcription	HMEC	breast
14	chr6:4859800-4871200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:4860200-4870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:4861800-4871400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:4861800-4872000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:4862200-4871400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:4862400-4872000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:4865000-4870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:4865400-4871200	Weak transcription	K562	blood
22	chr6:4865600-4875000	Weak transcription	Aorta	Aorta
23	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:4865800-4870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:4865800-4871400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:4866600-4880200	Weak transcription	HSMM	muscle
27	chr6:4868400-4870800	Weak transcription	Hela-S3	cervix
28	chr6:4868400-4871400	Weak transcription	A549	lung
29	chr6:4868600-4880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr6:4869600-4890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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