Variant report

Variant	rs34860096
Chromosome Location	chr15:40216022-40216023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40214834..40219458-chr15:40222098..40228403,10	K562	blood:
2	chr15:40214696..40216721-chr15:40223722..40226672,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2AK4-1	chr15:40214988-40217099	ENSG00000246863
2	lnc-EIF2AK4-1	chr15:40214988-40217139	XLOC_011218
3	lnc-EIF2AK4-1	chr15:40214988-40218031	XLOC_011218
4	lnc-EIF2AK4-1	chr15:40214988-40218031	XLOC_011218
5	lnc-EIF2AK4-1	chr15:40214988-40217100	ENSG00000246863.2
6	lnc-EIF2AK4-1	chr15:40213271-40218081	ENSG00000246863.2

No data

Variant related genes	Relation type
ENSG00000128829	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17720383	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17720451	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17720604	0.86[EUR][1000 genomes]
rs17720724	0.81[EUR][1000 genomes]
rs17720930	0.80[EUR][1000 genomes]
rs17720964	0.80[EUR][1000 genomes]
rs17721122	0.80[EUR][1000 genomes]
rs34513040	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4923846	0.80[EUR][1000 genomes]
rs72729460	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40213600-40217600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:40213600-40225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:40213600-40225400	Weak transcription	Pancreas	Pancrea
4	chr15:40213800-40216600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:40213800-40217400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:40213800-40217400	Weak transcription	HSMMtube	muscle
7	chr15:40213800-40217400	Weak transcription	HUVEC	blood vessel
8	chr15:40213800-40217400	Weak transcription	NH-A	brain
9	chr15:40213800-40217600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:40213800-40217800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:40213800-40225800	Weak transcription	Right Atrium	heart
12	chr15:40214000-40216400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:40214000-40216800	Weak transcription	K562	blood
14	chr15:40214000-40217400	Weak transcription	Hela-S3	cervix
15	chr15:40215000-40217400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:40215200-40216200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr15:40215200-40216200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:40215200-40216200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:40215200-40216200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:40215200-40216200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:40215200-40216200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:40215200-40216400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:40215200-40216800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:40215200-40216800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:40215200-40217200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:40215200-40217200	Weak transcription	Osteobl	bone
27	chr15:40215200-40217400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:40215200-40217400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:40215200-40217400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:40215200-40217400	Weak transcription	HMEC	breast
31	chr15:40215200-40217400	Weak transcription	NHLF	lung
32	chr15:40215200-40217600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr15:40215200-40217600	Weak transcription	NHDF-Ad	bronchial
34	chr15:40215200-40217800	Weak transcription	HSMM	muscle
35	chr15:40215200-40226000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:40215400-40216400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:40215400-40217400	Weak transcription	NHEK	skin
38	chr15:40215600-40217200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:40215600-40217400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:40215600-40225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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