Variant report

Variant	rs12618428
Chromosome Location	chr2:151732979-151732980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10168022	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10181266	0.83[ASN][1000 genomes]
rs10203161	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10209774	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10489981	0.84[ASN][1000 genomes]
rs12623693	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12692884	0.83[ASN][1000 genomes]
rs16828818	0.90[ASN][1000 genomes]
rs1990148	0.83[ASN][1000 genomes]
rs2190369	0.83[ASN][1000 genomes]
rs2190370	0.83[ASN][1000 genomes]
rs60216830	0.88[ASN][1000 genomes]
rs6723323	0.89[ASN][1000 genomes]
rs6727152	0.83[ASN][1000 genomes]
rs6730185	0.83[ASN][1000 genomes]
rs726503	0.89[ASN][1000 genomes]
rs72862941	0.83[ASN][1000 genomes]
rs978741	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv2757836	chr2:151457277-151844210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv2759096	chr2:151457277-151844210	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv2756950	chr2:151502539-151749973	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1010993	chr2:151535786-151742522	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv35134	chr2:151542492-151741492	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv998945	chr2:151711411-151833317	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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 target site	21 gene(s)	inside rSNPs	diseases
11	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv2971	chr2:151725801-151770425	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151728200-151733600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:151728200-151733800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:151728400-151733400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:151728400-151734400	Enhancers	Fetal Lung	lung
5	chr2:151728600-151733400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:151728600-151733600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:151728600-151733800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:151729000-151734600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:151729800-151733000	Weak transcription	HSMMtube	muscle
10	chr2:151729800-151733600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:151729800-151734800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:151730000-151733000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:151730000-151733000	Weak transcription	NHLF	lung
14	chr2:151730000-151733400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:151730200-151733000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:151730200-151733200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:151730400-151733000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:151730800-151733200	Weak transcription	Fetal Kidney	kidney
19	chr2:151732200-151733000	Weak transcription	Fetal Stomach	stomach
20	chr2:151732200-151733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:151732200-151735800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:151732400-151733600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:151732600-151733600	Enhancers	NHDF-Ad	bronchial
24	chr2:151732600-151734800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:151732800-151733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:151732800-151733600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:151732800-151733600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:151732800-151733800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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