Variant report

Variant	rs8038771
Chromosome Location	chr15:42661232-42661233
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	chr15:42657935..42659641-chr15:42660404..42662394,2	K562	blood:
2	chr15:42660141..42662692-chr15:42684785..42686595,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs16972927	0.83[EUR][1000 genomes]
rs16972930	0.83[EUR][1000 genomes]
rs16972969	0.83[EUR][1000 genomes]
rs16973015	0.83[EUR][1000 genomes]
rs16973018	0.83[EUR][1000 genomes]
rs16973022	0.83[EUR][1000 genomes]
rs16973177	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973200	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16973206	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17593	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364385	0.89[AFR][1000 genomes]
rs28364387	0.83[EUR][1000 genomes]
rs28364399	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28364423	0.83[EUR][1000 genomes]
rs4307925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4486855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4516202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5029919	0.86[EUR][1000 genomes]
rs7167683	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7174880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs728507	1.00[EUR][1000 genomes]
rs728508	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs728509	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs728510	0.83[EUR][1000 genomes]
rs8024452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8026890	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8027800	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033108	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8033734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035332	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035521	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040726	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs934877	0.83[EUR][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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv932995	chr15:42640015-42704121	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42645600-42663000	Weak transcription	NHDF-Ad	bronchial
2	chr15:42645600-42663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:42645600-42677800	Weak transcription	Spleen	Spleen
4	chr15:42646000-42662600	Weak transcription	Brain Substantia Nigra	brain
5	chr15:42646000-42678600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:42647800-42678200	Weak transcription	Ovary	ovary
7	chr15:42649800-42673200	Weak transcription	Thymus	Thymus
8	chr15:42650600-42661600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:42650800-42664000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:42652400-42665400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:42652800-42684400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:42653200-42691600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:42654200-42677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:42654400-42665400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:42654800-42669400	Weak transcription	Liver	Liver
16	chr15:42656000-42678800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:42656800-42663600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr15:42656800-42693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:42656800-42697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:42657000-42665600	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:42657000-42665600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:42657200-42665800	Weak transcription	Left Ventricle	heart
23	chr15:42657200-42678800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:42659600-42662800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:42659600-42676800	Weak transcription	Lung	lung
26	chr15:42660000-42661800	Weak transcription	Primary B cells from cord blood	blood
27	chr15:42660200-42661400	Strong transcription	Fetal Muscle Leg	muscle
28	chr15:42660200-42663600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr15:42660200-42663800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr15:42660400-42661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:42660600-42661400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr15:42660600-42661600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:42660600-42661600	Weak transcription	Osteobl	bone
34	chr15:42660600-42663200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr15:42661000-42662000	Enhancers	Psoas Muscle	Psoas
36	chr15:42661200-42663200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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