Variant report

Variant	rs74024762
Chromosome Location	chr16:75316661-75316662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75312126..75313652-chr16:75315659..75317254,2	K562	blood:
2	chr16:75311251..75314643-chr16:75315165..75318311,4	K562	blood:
3	chr16:75282717..75287400-chr16:75313290..75317298,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16960300	1.00[AMR][1000 genomes]
rs16960531	1.00[AMR][1000 genomes]
rs16960716	1.00[AMR][1000 genomes]
rs16961751	1.00[AMR][1000 genomes]
rs16962103	1.00[AMR][1000 genomes]
rs55693034	1.00[AMR][1000 genomes]
rs56120923	1.00[AMR][1000 genomes]
rs59044615	1.00[AMR][1000 genomes]
rs61736963	1.00[AMR][1000 genomes]
rs74024763	1.00[AMR][1000 genomes]
rs74024767	1.00[AMR][1000 genomes]
rs74024776	1.00[AMR][1000 genomes]
rs74024778	1.00[AMR][1000 genomes]
rs74024781	1.00[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	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	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
4	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	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
8	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75301000-75325000	Weak transcription	Liver	Liver
2	chr16:75301800-75321800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:75302000-75324000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:75306200-75325000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:75306200-75325200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr16:75306400-75321600	Weak transcription	Right Atrium	heart
7	chr16:75307600-75316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:75307600-75321600	Weak transcription	Lung	lung
9	chr16:75307800-75318600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:75307800-75320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:75307800-75323000	Weak transcription	NHLF	lung
12	chr16:75307800-75325400	Weak transcription	Osteobl	bone
13	chr16:75311600-75321200	Weak transcription	Spleen	Spleen
14	chr16:75312000-75324400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:75312400-75317000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr16:75312400-75317000	Enhancers	HMEC	breast
17	chr16:75312400-75317200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:75312600-75316800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:75313400-75324600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr16:75313400-75325200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:75313400-75325200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:75313600-75318600	Weak transcription	Fetal Stomach	stomach
23	chr16:75313600-75321000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:75313600-75321600	Weak transcription	Left Ventricle	heart
25	chr16:75313600-75321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:75313600-75321800	Weak transcription	Gastric	stomach
27	chr16:75313600-75321800	Weak transcription	HUVEC	blood vessel
28	chr16:75313600-75322000	Weak transcription	Fetal Intestine Large	intestine
29	chr16:75313600-75322200	Weak transcription	Adipose Nuclei	Adipose
30	chr16:75313600-75323200	Weak transcription	HepG2	liver
31	chr16:75313600-75323800	Weak transcription	Ovary	ovary
32	chr16:75313600-75325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:75313600-75330400	Weak transcription	Pancreas	Pancrea
34	chr16:75313800-75322200	Weak transcription	Right Ventricle	heart
35	chr16:75314000-75322000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr16:75314000-75325000	Weak transcription	Brain Anterior Caudate	brain
37	chr16:75314400-75321600	Weak transcription	Fetal Lung	lung
38	chr16:75314600-75318600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr16:75314800-75321800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr16:75314800-75321800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:75314800-75325400	Weak transcription	Colon Smooth Muscle	Colon
42	chr16:75315000-75320800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr16:75315000-75321200	Weak transcription	Placenta	Placenta
44	chr16:75315000-75321800	Weak transcription	HSMM	muscle
45	chr16:75315000-75335600	Weak transcription	Psoas Muscle	Psoas
46	chr16:75315200-75321600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr16:75315200-75325200	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:75315200-75326600	Weak transcription	Brain Substantia Nigra	brain
49	chr16:75315400-75316800	Enhancers	Brain Germinal Matrix	brain
50	chr16:75315400-75325400	Weak transcription	Aorta	Aorta

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