Variant report

Variant	rs7569969
Chromosome Location	chr2:145469368-145469369
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145279653..145282025-chr2:145468587..145470858,2	K562	blood:
2	chr2:145463087..145468064-chr2:145468500..145471116,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16823942	1.00[AMR][1000 genomes]
rs16823955	1.00[AMR][1000 genomes]
rs16823979	0.83[AMR][1000 genomes]
rs58376008	1.00[AMR][1000 genomes]
rs73962049	1.00[AMR][1000 genomes]
rs73962058	1.00[AMR][1000 genomes]
rs73962072	1.00[AMR][1000 genomes]
rs73963933	0.83[AMR][1000 genomes]
rs7566059	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145463200-145469600	Weak transcription	HSMMtube	muscle
2	chr2:145463200-145495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:145464400-145469400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:145464600-145473400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:145465600-145469600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:145467400-145470800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:145468000-145469400	Weak transcription	Brain Anterior Caudate	brain
8	chr2:145468200-145470800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:145468400-145470800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:145468600-145469800	Weak transcription	NHDF-Ad	bronchial
11	chr2:145468600-145473400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:145468800-145471200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:145468800-145471400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:145469000-145469800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr2:145469000-145471200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:145469000-145471800	Enhancers	Fetal Heart	heart
17	chr2:145469200-145469400	Active TSS	Aorta	Aorta
18	chr2:145469200-145469800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:145469200-145470000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:145469200-145470000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:145469200-145470200	Enhancers	Fetal Brain Male	brain
22	chr2:145469200-145470400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:145469200-145470600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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