Variant report

Variant	rs1005343
Chromosome Location	chr14:36975574-36975575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1005354	1.00[ASN][1000 genomes]
rs1005355	1.00[ASN][1000 genomes]
rs10143437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483474	1.00[ASN][1000 genomes]
rs1535340	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535341	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535342	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104778	1.00[ASN][1000 genomes]
rs17104780	1.00[ASN][1000 genomes]
rs17104802	1.00[ASN][1000 genomes]
rs177322	1.00[ASN][1000 genomes]
rs177325	1.00[ASN][1000 genomes]
rs1956966	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253957	1.00[ASN][1000 genomes]
rs735599	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs735708	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004831	1.00[ASN][1000 genomes]
rs986876	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv977584	chr14:36972742-36978499	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36973800-36975600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:36973800-36975600	Bivalent Enhancer	Brain Germinal Matrix	brain
3	chr14:36973800-36978000	Weak transcription	Right Atrium	heart
4	chr14:36974000-36975600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:36974000-36975600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr14:36974400-36975600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr14:36974600-36975600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:36974600-36975600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:36974600-36976000	ZNF genes & repeats	Lung	lung
10	chr14:36974800-36975600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:36974800-36975600	Enhancers	Pancreas	Pancrea
12	chr14:36974800-36975800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:36975200-36975600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:36975200-36975800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr14:36975200-36976200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:36975200-36977400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:36975400-36975600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr14:36975400-36975600	Bivalent/Poised TSS	Right Ventricle	heart
19	chr14:36975400-36975600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
20	chr14:36975400-36975600	Bivalent Enhancer	A549	lung
21	chr14:36975400-36975800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr14:36975400-36975800	Bivalent Enhancer	Liver	Liver
23	chr14:36975400-36976000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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