Variant report

Variant	rs6753216
Chromosome Location	chr2:114035465-114035466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114033208..114035776-chr2:114039656..114042402,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs11689813	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13001920	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1374161	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374162	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1466018	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4849188	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542127	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6707245	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6720637	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6726151	0.80[ASN][1000 genomes]
rs6734610	0.82[ASN][1000 genomes]
rs6749645	0.81[EUR][1000 genomes]
rs7560701	0.91[ASN][1000 genomes]
rs895418	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv535895	chr2:114015492-114037018	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6753216	AC016683.6	cis	Whole Blood	GTEx
rs6753216	RP11-65I12.1	cis	Thyroid	GTEx
rs6753216	AC016683.6	cis	Artery Tibial	GTEx
rs6753216	LOC654433	Cis_1M	lymphoblastoid	RTeQTL
rs6753216	AC016683.6	cis	Adipose Subcutaneous	GTEx
rs6753216	AC016683.6	cis	Muscle Skeletal	GTEx
rs6753216	AC016683.6	cis	Nerve Tibial	GTEx
rs6753216	PAX8	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114023200-114039800	Weak transcription	Gastric	stomach
2	chr2:114031600-114037000	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr2:114032800-114035800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
4	chr2:114033000-114035800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr2:114033000-114036600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:114033000-114038000	Weak transcription	A549	lung
7	chr2:114033200-114036000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr2:114033400-114035600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:114033400-114035600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:114033400-114035600	Bivalent Enhancer	Spleen	Spleen
11	chr2:114033400-114036000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:114033400-114036000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr2:114033400-114036400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:114033400-114036400	Bivalent Enhancer	Fetal Brain Male	brain
15	chr2:114033400-114036600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr2:114033600-114036000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr2:114033600-114036400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:114033600-114036400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:114033600-114037200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:114034000-114036200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:114034200-114036600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr2:114034200-114036600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:114034400-114035600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr2:114034400-114035600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:114034400-114035600	Enhancers	Pancreas	Pancrea
26	chr2:114034400-114035600	Bivalent Enhancer	NH-A	brain
27	chr2:114034400-114035800	Bivalent Enhancer	Esophagus	oesophagus
28	chr2:114034400-114035800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
29	chr2:114034400-114036000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr2:114034400-114036000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr2:114034400-114036200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr2:114034600-114035600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
33	chr2:114034600-114035600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr2:114034600-114035800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:114034600-114035800	Bivalent Enhancer	Fetal Stomach	stomach
36	chr2:114034600-114036000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:114034600-114036000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr2:114034600-114036000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:114034600-114036000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:114034600-114036000	Bivalent Enhancer	Fetal Lung	lung
41	chr2:114034600-114036200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:114034600-114036400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
43	chr2:114034800-114035600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
44	chr2:114034800-114035600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:114034800-114035600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr2:114034800-114035600	Bivalent Enhancer	Brain Hippocampus Middle	brain
47	chr2:114034800-114035800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:114034800-114035800	Enhancers	Liver	Liver
49	chr2:114034800-114036000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr2:114034800-114036800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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