Variant report

Variant	rs60074376
Chromosome Location	chr16:75592486-75592487
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75588622..75597419-chr16:75598326..75606239,14	K562	blood:
2	chr16:75549961..75554189-chr16:75589462..75592660,4	K562	blood:
3	chr16:75587061..75591674-chr16:75591677..75597187,8	K562	blood:
4	chr16:75588642..75591639-chr16:75592315..75596973,4	MCF-7	breast:
5	chr16:75589157..75591789-chr16:75592246..75594958,4	K562	blood:
6	chr16:75587220..75591082-chr16:75591374..75595708,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262583	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000034713	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56029288	0.86[AFR][1000 genomes]
rs57483280	0.87[AMR][1000 genomes]
rs57709930	0.87[AMR][1000 genomes]
rs59444431	0.87[AMR][1000 genomes]
rs59487462	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60713528	0.83[AFR][1000 genomes]
rs7200517	0.87[AMR][1000 genomes]
rs73615008	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615046	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73615054	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8047796	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051251	0.87[AMR][1000 genomes]
rs8052388	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS 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	57 gene(s)	inside rSNPs	diseases
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv906929	chr16:75569739-75594918	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75590200-75593000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:75590400-75592800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:75590600-75592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr16:75590600-75593000	Weak transcription	Fetal Lung	lung
5	chr16:75590600-75593600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:75590600-75593600	Weak transcription	NHDF-Ad	bronchial
7	chr16:75590600-75594000	Weak transcription	NH-A	brain
8	chr16:75590600-75595200	Weak transcription	GM12878-XiMat	blood
9	chr16:75590600-75599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:75590800-75592800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:75590800-75592800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:75590800-75593000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr16:75590800-75593000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:75590800-75593000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr16:75590800-75593400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:75590800-75593400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:75590800-75593400	Weak transcription	HSMMtube	muscle
18	chr16:75590800-75593400	Weak transcription	Osteobl	bone
19	chr16:75590800-75593600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:75590800-75593600	Weak transcription	Adipose Nuclei	Adipose
21	chr16:75590800-75593600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr16:75590800-75593600	Weak transcription	Hela-S3	cervix
23	chr16:75590800-75593600	Weak transcription	HMEC	breast
24	chr16:75590800-75593600	Weak transcription	HSMM	muscle
25	chr16:75590800-75593600	Enhancers	K562	blood
26	chr16:75590800-75593600	Weak transcription	NHLF	lung
27	chr16:75590800-75594000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:75591200-75592800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:75591200-75593000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:75591200-75593000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:75591200-75593000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:75591200-75593200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:75591200-75593400	Weak transcription	Fetal Muscle Leg	muscle
34	chr16:75591200-75593600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:75591200-75593800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:75591200-75594400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr16:75591200-75599400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:75591400-75593000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr16:75592000-75592600	Enhancers	NHEK	skin
40	chr16:75592200-75593000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:75592200-75593800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:75592400-75592600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr16:75592400-75592800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr16:75592400-75594800	Enhancers	Placenta	Placenta

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