Variant report

Variant	rs6719213
Chromosome Location	chr2:152171750-152171751
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10167886	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10174715	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10176271	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1023634	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10490522	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11679466	0.82[EUR][1000 genomes]
rs12617724	0.82[EUR][1000 genomes]
rs2278089	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs289828	0.88[CHB][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs289835	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34132424	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs387297	0.84[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3936325	0.84[ASN][1000 genomes]
rs4664021	0.98[ASN][1000 genomes]
rs4664357	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6433327	0.81[CHB][hapmap]
rs6708382	0.81[CHB][hapmap]
rs6715393	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6715902	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6726634	0.81[CHB][hapmap]
rs7574216	0.98[ASN][1000 genomes]
rs7585805	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9287955	0.81[CHB][hapmap]

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	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6719213	TNFAIP6	cis	Whole Blood	GTEx
rs6719213	NMI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152168400-152173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:152169200-152171800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:152169600-152171800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:152169600-152171800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:152171000-152172600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:152171000-152172600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:152171000-152172800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:152171200-152171800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:152171400-152171800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:152171400-152171800	Enhancers	Osteobl	bone
11	chr2:152171600-152171800	Enhancers	Brain Anterior Caudate	brain
12	chr2:152171600-152172000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:152171600-152172000	Enhancers	NHDF-Ad	bronchial
14	chr2:152171600-152172600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:152171600-152172600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:152171600-152172600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:152171600-152172600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:152171600-152172600	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:152171600-152172600	Enhancers	Ovary	ovary
20	chr2:152171600-152172800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:152171600-152172800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:152171600-152172800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:152171600-152172800	Enhancers	Fetal Muscle Leg	muscle
24	chr2:152171600-152172800	Enhancers	Fetal Stomach	stomach
25	chr2:152171600-152172800	Enhancers	HSMM	muscle
26	chr2:152171600-152173200	Enhancers	HSMMtube	muscle

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