Variant report

Variant	rs62386593
Chromosome Location	chr6:4847078-4847079
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	chr6:4776573..4778136-chr6:4847031..4849578,2	K562	blood:
2	chr6:4845889..4847519-chr6:4848149..4850482,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2179269	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61610972	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62384662	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62384663	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62384665	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62386571	0.86[ASN][1000 genomes]
rs62386575	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62386578	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386582	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386584	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386585	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386587	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386590	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386591	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386612	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386614	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910368	0.83[EUR][1000 genomes]
rs6918626	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6924037	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs808593	0.86[EUR][1000 genomes]
rs808598	0.86[EUR][1000 genomes]
rs808600	0.85[EUR][1000 genomes]
rs808606	0.86[EUR][1000 genomes]
rs808607	0.86[EUR][1000 genomes]
rs808608	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs808635	0.86[EUR][1000 genomes]
rs9378917	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9378919	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9392640	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9405786	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv966675	chr6:4819733-4855009	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4821200-4853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:4830000-4848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:4836800-4848600	Weak transcription	Right Ventricle	heart
4	chr6:4837400-4848400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:4840200-4847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:4844600-4847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:4844600-4847200	Weak transcription	Lung	lung
8	chr6:4844600-4847200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:4844600-4859600	Weak transcription	Spleen	Spleen
10	chr6:4844800-4847200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:4844800-4847200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:4844800-4853200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:4844800-4854000	Weak transcription	NHEK	skin
14	chr6:4844800-4856600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:4844800-4863000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:4845000-4848800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:4845000-4849400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:4846000-4849200	Enhancers	Psoas Muscle	Psoas
19	chr6:4846200-4847400	Enhancers	Liver	Liver
20	chr6:4846200-4847400	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:4846200-4847400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:4846200-4848600	Weak transcription	HSMMtube	muscle
23	chr6:4846400-4847400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:4846400-4848000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:4846400-4850600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:4846400-4859000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:4846600-4847600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:4846600-4847800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:4846600-4848000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr6:4846800-4847400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:4846800-4847600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:4846800-4847800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:4846800-4849000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:4847000-4847800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:4847000-4848000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:4847000-4848400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:4847000-4849000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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