Variant report

Variant	rs12094349
Chromosome Location	chr1:160918903-160918904
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12058351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12082989	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087087	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087658	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56187725	1.00[EUR][1000 genomes]
rs59397787	1.00[EUR][1000 genomes]
rs61090558	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61469377	1.00[EUR][1000 genomes]
rs6656542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126638	1.00[EUR][1000 genomes]
rs74126641	1.00[EUR][1000 genomes]
rs7524859	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7532566	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs790060	1.00[EUR][1000 genomes]
rs790061	1.00[EUR][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3430322	chr1:160851829-160920480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160905800-160919800	Weak transcription	Right Atrium	heart
2	chr1:160911800-160920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:160915600-160919400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:160916000-160919000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:160916400-160920600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:160916600-160920400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:160916600-160921800	Enhancers	Fetal Intestine Large	intestine
8	chr1:160916800-160919600	Weak transcription	HMEC	breast
9	chr1:160916800-160923800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:160917600-160919000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:160917600-160921800	Enhancers	A549	lung
12	chr1:160917800-160919200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:160918000-160919400	Weak transcription	Fetal Heart	heart
14	chr1:160918000-160919600	Weak transcription	NHEK	skin
15	chr1:160918000-160921400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:160918000-160923800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:160918200-160919600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:160918200-160919600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:160918200-160919800	Weak transcription	Ovary	ovary
20	chr1:160918200-160921000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:160918200-160921200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:160918200-160923800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:160918400-160919000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr1:160918400-160919000	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr1:160918400-160919400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:160918400-160921600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:160918600-160920200	Enhancers	K562	blood
28	chr1:160918600-160920400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:160918600-160921000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:160918800-160920200	Enhancers	Hela-S3	cervix
31	chr1:160918800-160921000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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