Variant report

Variant	rs71571332
Chromosome Location	chr6:38601689-38601690
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	chr6:38593677..38595710-chr6:38600542..38603385,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10484855	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1130534	0.80[EUR][1000 genomes]
rs11751782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206711	1.00[ASN][1000 genomes]
rs12212784	1.00[ASN][1000 genomes]
rs13191302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13194237	0.85[EUR][1000 genomes]
rs13196530	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196708	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13199033	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13202862	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203443	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13209846	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210334	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212218	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213257	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214969	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13215896	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13217234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13218305	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219252	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219395	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13219781	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1698998	1.00[ASN][1000 genomes]
rs17544311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17544868	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937782	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2654449	1.00[ASN][1000 genomes]
rs28360530	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349982	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34360712	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34408317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34470929	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34519749	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34637217	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34695044	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34897279	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34962226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34971977	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35147121	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35152718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35207097	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35266471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35364976	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35388596	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901431	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35975219	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67457665	1.00[ASN][1000 genomes]
rs71544423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71571331	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71571336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72856580	1.00[ASN][1000 genomes]
rs73416349	1.00[ASN][1000 genomes]
rs73416350	1.00[ASN][1000 genomes]
rs73416351	1.00[ASN][1000 genomes]
rs7451595	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7604	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746400	1.00[ASN][1000 genomes]
rs7750789	1.00[ASN][1000 genomes]
rs7762397	1.00[ASN][1000 genomes]
rs963720	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr6:38580600-38601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:38580800-38604400	Weak transcription	Ovary	ovary
3	chr6:38583800-38602000	Weak transcription	Primary T cells from cord blood	blood
4	chr6:38593800-38601800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:38599000-38601800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:38599400-38602000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:38599600-38606200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:38599600-38606600	Weak transcription	Lung	lung
9	chr6:38599800-38604400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:38600400-38601800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:38600400-38603000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr6:38600600-38602000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:38600600-38605600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:38600600-38606600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:38600800-38606600	Weak transcription	Right Ventricle	heart
16	chr6:38601000-38602800	Enhancers	Brain Substantia Nigra	brain
17	chr6:38601000-38604600	Enhancers	Stomach Mucosa	stomach
18	chr6:38601000-38606400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:38601200-38601800	Weak transcription	Psoas Muscle	Psoas
20	chr6:38601200-38602800	Weak transcription	Left Ventricle	heart
21	chr6:38601200-38607000	Weak transcription	Gastric	stomach
22	chr6:38601400-38602200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:38601400-38602400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:38601600-38602200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:38601600-38602200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:38601600-38602200	Enhancers	Brain Germinal Matrix	brain
27	chr6:38601600-38602600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:38601600-38602800	Enhancers	Fetal Heart	heart
29	chr6:38601600-38602800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:38601600-38603800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:38601600-38604600	Weak transcription	Fetal Brain Female	brain
32	chr6:38601600-38606600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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