Variant report

Variant	rs12598928
Chromosome Location	chr16:81542859-81542860
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81537410..81540431-chr16:81541653..81543691,3	K562	blood:
2	chr16:81541404..81543131-chr16:81562418..81564438,2	MCF-7	breast:
3	chr16:81536056..81540431-chr16:81540581..81543691,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16955462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2966098	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2966099	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55932963	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56000269	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57078137	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59803316	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59834857	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62046563	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62046582	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9940586	0.90[AMR][1000 genomes];0.91[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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:81527400-81544000	Genic enhancers	A549	lung
5	chr16:81527800-81546600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:81527800-81546600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:81528200-81547000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:81529000-81544000	Weak transcription	Hela-S3	cervix
9	chr16:81529000-81546800	Weak transcription	Dnd41	blood
10	chr16:81529200-81547000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:81531200-81545800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:81532400-81546800	Weak transcription	Gastric	stomach
13	chr16:81532800-81546600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr16:81533000-81546600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr16:81533200-81546800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:81533600-81545400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:81533800-81545800	Weak transcription	Liver	Liver
18	chr16:81533800-81547000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:81533800-81550000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:81534800-81543600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:81534800-81546800	Weak transcription	Colonic Mucosa	Colon
22	chr16:81534800-81550000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:81535000-81544400	Weak transcription	HSMM	muscle
24	chr16:81535000-81544600	Weak transcription	NH-A	brain
25	chr16:81535000-81546800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:81535200-81544600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:81536200-81546600	Weak transcription	Right Atrium	heart
28	chr16:81536600-81546600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:81536800-81545800	Weak transcription	Stomach Mucosa	stomach
30	chr16:81536800-81546600	Weak transcription	Fetal Intestine Large	intestine
31	chr16:81536800-81546600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:81537000-81546600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr16:81537000-81549400	Weak transcription	Fetal Brain Female	brain
34	chr16:81537800-81545800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr16:81538000-81546400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr16:81538800-81546000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:81539000-81544600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr16:81539200-81543400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:81539200-81544000	Weak transcription	HMEC	breast
40	chr16:81539200-81546600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr16:81539200-81546600	Weak transcription	Fetal Muscle Leg	muscle
42	chr16:81539200-81546600	Weak transcription	Fetal Thymus	thymus
43	chr16:81539400-81543000	Weak transcription	Esophagus	oesophagus
44	chr16:81540000-81543400	Weak transcription	Adipose Nuclei	Adipose
45	chr16:81540000-81546800	Weak transcription	Spleen	Spleen
46	chr16:81540200-81546600	Weak transcription	Brain Hippocampus Middle	brain
47	chr16:81541000-81546800	Weak transcription	K562	blood
48	chr16:81541200-81543400	Enhancers	Lung	lung
49	chr16:81541200-81545200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:81541400-81544000	Strong transcription	Fetal Stomach	stomach

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