Variant report

Variant	rs58218720
Chromosome Location	chr6:34453870-34453871
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	chr6:34450444..34452541-chr6:34453847..34456328,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12660150	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12660470	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12661696	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12663061	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1409284	0.83[EUR][1000 genomes]
rs1886980	0.83[EUR][1000 genomes]
rs2395596	0.83[EUR][1000 genomes]
rs34603400	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3778069	0.83[EUR][1000 genomes]
rs3778071	0.83[EUR][1000 genomes]
rs3778075	0.83[EUR][1000 genomes]
rs3798546	0.83[EUR][1000 genomes]
rs3798549	0.83[EUR][1000 genomes]
rs3800468	0.81[AMR][1000 genomes]
rs3822986	0.83[EUR][1000 genomes]
rs3945698	0.83[EUR][1000 genomes]
rs55660517	0.83[EUR][1000 genomes]
rs56781192	0.83[EUR][1000 genomes]
rs58067963	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58741004	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59738570	0.83[EUR][1000 genomes]
rs60375159	0.86[AMR][1000 genomes]
rs60793757	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61453687	0.83[EUR][1000 genomes]
rs7763757	0.83[EUR][1000 genomes]
rs913017	0.83[EUR][1000 genomes]

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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv462904	chr6:34416388-34493012	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv602903	chr6:34416388-34493012	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34441400-34494000	Weak transcription	Right Atrium	heart
2	chr6:34444600-34468200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:34451000-34458800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:34451200-34454400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:34451200-34454800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:34451800-34454400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:34451800-34454400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:34451800-34454400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:34451800-34454400	Enhancers	NHEK	skin
10	chr6:34451800-34454600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr6:34452000-34454200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:34452000-34454400	Enhancers	Primary T cells from cord blood	blood
13	chr6:34452000-34454400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:34452000-34454600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr6:34452000-34454600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:34452000-34454600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:34452000-34454600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:34452400-34454600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:34452600-34454000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:34452600-34454400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:34452600-34454400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:34452600-34454400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr6:34453000-34454200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:34453000-34454400	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:34453200-34454400	Enhancers	Thymus	Thymus
26	chr6:34453200-34458400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:34453200-34458400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:34453400-34454400	Enhancers	Fetal Muscle Trunk	muscle
29	chr6:34453400-34455000	Enhancers	Fetal Thymus	thymus
30	chr6:34453400-34458200	Weak transcription	K562	blood
31	chr6:34453600-34455000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr6:34453800-34454200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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