Variant report

Variant	rs16973177
Chromosome Location	chr15:42658058-42658059
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	chr15:42657935..42659641-chr15:42660404..42662394,2	K562	blood:
2	chr15:42651311..42654489-chr15:42654589..42658638,4	K562	blood:

Variant related genes	Relation type
ENSG00000092529	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

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]
rs16973097	0.80[AFR][1000 genomes]
rs16973175	0.88[AFR][1000 genomes]
rs16973182	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973184	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973188	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973200	0.83[EUR][1000 genomes]
rs16973206	1.00[EUR][1000 genomes]
rs17593	1.00[EUR][1000 genomes]
rs28364371	0.81[AFR][1000 genomes]
rs28364372	0.92[AFR][1000 genomes]
rs28364383	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364387	0.83[EUR][1000 genomes]
rs28364399	0.83[EUR][1000 genomes]
rs28364423	0.83[EUR][1000 genomes]
rs4307925	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4486855	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4516202	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5029919	0.86[EUR][1000 genomes]
rs7167683	1.00[EUR][1000 genomes]
rs7174880	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs728507	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs728508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs728509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs728510	0.83[EUR][1000 genomes]
rs8024452	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8026890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8027800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033108	0.83[EUR][1000 genomes]
rs8033734	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033882	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033960	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038771	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038967	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039470	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040129	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040726	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42639400-42658600	Weak transcription	Hela-S3	cervix
2	chr15:42645600-42663000	Weak transcription	NHDF-Ad	bronchial
3	chr15:42645600-42663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:42645600-42677800	Weak transcription	Spleen	Spleen
5	chr15:42646000-42662600	Weak transcription	Brain Substantia Nigra	brain
6	chr15:42646000-42678600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:42647200-42658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:42647800-42678200	Weak transcription	Ovary	ovary
9	chr15:42649600-42659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:42649800-42659800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:42649800-42673200	Weak transcription	Thymus	Thymus
12	chr15:42650200-42659600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:42650600-42661000	Weak transcription	Esophagus	oesophagus
14	chr15:42650600-42661600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:42650800-42659400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:42650800-42664000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:42651200-42659600	Weak transcription	Primary T cells from cord blood	blood
18	chr15:42652400-42660600	Weak transcription	Aorta	Aorta
19	chr15:42652400-42665400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:42652800-42684400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:42653200-42659200	Enhancers	Psoas Muscle	Psoas
22	chr15:42653200-42691600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:42653400-42659600	Weak transcription	Fetal Intestine Small	intestine
24	chr15:42654200-42677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:42654400-42665400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:42654800-42669400	Weak transcription	Liver	Liver
27	chr15:42656000-42678800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:42656800-42663600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr15:42656800-42693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:42656800-42697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:42657000-42659200	Enhancers	Primary B cells from cord blood	blood
32	chr15:42657000-42665600	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:42657000-42665600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr15:42657200-42659200	Weak transcription	Lung	lung
35	chr15:42657200-42659400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr15:42657200-42660200	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:42657200-42665800	Weak transcription	Left Ventricle	heart
38	chr15:42657200-42678800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:42657600-42659000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr15:42657800-42659400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:42657800-42660200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr15:42658000-42658600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr15:42658000-42658600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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