Variant report

Variant	rs8054998
Chromosome Location	chr16:75234428-75234429
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	chr16:75233387..75236212-chr16:75236594..75240040,3	K562	blood:

Variant related genes	Relation type
ENSG00000168928	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56095863	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56177985	0.83[AMR][1000 genomes]
rs6564229	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7194705	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8047814	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8049981	0.84[ASN][1000 genomes]
rs8056772	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8062379	0.86[AMR][1000 genomes];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	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	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	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
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75232200-75235200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:75232400-75235200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:75232400-75237600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr16:75232400-75237600	Weak transcription	Pancreas	Pancrea
5	chr16:75232600-75240400	Weak transcription	HSMMtube	muscle
6	chr16:75232800-75234600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:75233400-75235000	Weak transcription	Placenta	Placenta
8	chr16:75233400-75235400	Enhancers	Fetal Heart	heart
9	chr16:75233600-75234600	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:75233600-75234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:75233600-75234600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:75233600-75235200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr16:75233800-75234600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:75233800-75234800	Weak transcription	Fetal Thymus	thymus
15	chr16:75233800-75235000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr16:75233800-75235000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr16:75233800-75235000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr16:75233800-75235000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:75233800-75235000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr16:75233800-75235000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr16:75233800-75235000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:75233800-75235000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr16:75233800-75235000	Weak transcription	GM12878-XiMat	blood
24	chr16:75233800-75235600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:75234000-75234600	Weak transcription	Osteobl	bone
26	chr16:75234400-75235000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:75234400-75236000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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