Variant report

Variant	rs34842664
Chromosome Location	chr8:42513675-42513676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12156092	0.95[ASN][1000 genomes]
rs1376442	0.96[ASN][1000 genomes]
rs1530850	0.94[ASN][1000 genomes]
rs1868860	0.94[ASN][1000 genomes]
rs1947295	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36057318	0.81[ASN][1000 genomes]
rs4737060	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6989472	0.94[ASN][1000 genomes]
rs6990603	0.81[ASN][1000 genomes]
rs7837296	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 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	chr8:42505400-42513800	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:42505400-42515800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:42505800-42514000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:42505800-42514000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:42509200-42515000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:42510200-42515200	Weak transcription	Left Ventricle	heart
7	chr8:42510400-42514000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:42511800-42513800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:42511800-42514800	Weak transcription	Pancreas	Pancrea
10	chr8:42511800-42515000	Weak transcription	Spleen	Spleen
11	chr8:42511800-42515600	Weak transcription	Fetal Stomach	stomach
12	chr8:42512000-42513800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:42512000-42514000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:42512000-42517000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:42512000-42517000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:42512200-42513800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:42512200-42514000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:42512200-42514000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:42512600-42513800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:42512800-42514000	Enhancers	HepG2	liver
21	chr8:42513200-42514000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:42513200-42514200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:42513200-42514200	Enhancers	NH-A	brain
24	chr8:42513200-42514400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:42513200-42515600	Enhancers	Fetal Heart	heart
26	chr8:42513200-42516000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:42513400-42514200	Enhancers	Cortex derived primary cultured neurospheres	brain

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