Variant report

Variant	rs74134347
Chromosome Location	chr1:196506288-196506289
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	chr1:196506093..196507732-chr1:196510558..196512261,2	K562	blood:
2	chr1:196500682..196504253-chr1:196504889..196507898,3	K562	blood:

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

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

rs_ID	r²[population]
rs12127468	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12130043	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12141177	1.00[AMR][1000 genomes]
rs12142425	0.83[AFR][1000 genomes]
rs35906110	0.83[AFR][1000 genomes]
rs56078312	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134330	1.00[AMR][1000 genomes]
rs74134368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134370	0.91[AFR][1000 genomes];1.00[AMR][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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196503600-196509600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr1:196503800-196509800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr1:196504200-196508000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr1:196504200-196508000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr1:196504200-196508000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr1:196504400-196506800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr1:196504800-196506400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:196504800-196506600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:196504800-196506800	ZNF genes & repeats	Fetal Lung	lung
10	chr1:196504800-196507000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr1:196504800-196507800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:196504800-196508000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:196505000-196507000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:196505000-196507800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:196505200-196507000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
16	chr1:196505200-196507200	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr1:196505200-196507400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:196505400-196506800	Strong transcription	Liver	Liver
19	chr1:196505400-196507400	ZNF genes & repeats	Fetal Stomach	stomach
20	chr1:196505600-196506600	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr1:196505800-196507800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:196506000-196507000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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