Variant report

Variant	rs2609374
Chromosome Location	chr1:223205938-223205939
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	chr1:223204173..223206514-chr1:223207124..223209819,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1612521	1.00[EUR][1000 genomes]
rs1773720	1.00[EUR][1000 genomes]
rs1773722	1.00[EUR][1000 genomes]
rs1773723	1.00[EUR][1000 genomes]
rs2430411	1.00[EUR][1000 genomes]
rs2487841	1.00[EUR][1000 genomes]
rs2609375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2609376	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744090	1.00[AMR][1000 genomes]
rs5744099	1.00[AMR][1000 genomes]
rs725971	1.00[EUR][1000 genomes]
rs864310	1.00[AMR][1000 genomes]
rs988781	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223203200-223206800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:223203400-223206200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:223204000-223206000	Enhancers	Fetal Muscle Leg	muscle
4	chr1:223204400-223207400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:223204600-223208000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:223204600-223208200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:223204800-223206000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:223204800-223206200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr1:223204800-223207400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr1:223204800-223208200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:223205000-223207400	Enhancers	NHEK	skin
12	chr1:223205000-223208000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:223205200-223206200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:223205200-223211000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:223205400-223207200	Weak transcription	Lung	lung
16	chr1:223205600-223206200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:223205600-223208200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:223205600-223208200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:223205800-223206200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:223205800-223206800	Weak transcription	Esophagus	oesophagus
21	chr1:223205800-223207000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:223205800-223207000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:223205800-223207000	Weak transcription	Stomach Mucosa	stomach
24	chr1:223205800-223207400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:223205800-223207600	Enhancers	Hela-S3	cervix
26	chr1:223205800-223209200	Weak transcription	Left Ventricle	heart
27	chr1:223205800-223209800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:223205800-223210600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:223205800-223211600	Weak transcription	Aorta	Aorta
30	chr1:223205800-223212200	Weak transcription	Right Ventricle	heart
31	chr1:223205800-223214800	Weak transcription	Right Atrium	heart

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