Variant report

Variant	rs73113929
Chromosome Location	chr1:223204322-223204323
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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11488546	1.00[AMR][1000 genomes]
rs36056653	1.00[AMR][1000 genomes]
rs5744162	1.00[AMR][1000 genomes]
rs73113906	1.00[AMR][1000 genomes]
rs73113914	1.00[AMR][1000 genomes]
rs73113918	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113937	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113940	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73115872	1.00[AMR][1000 genomes]
rs73115888	1.00[AMR][1000 genomes]
rs73118103	1.00[AMR][1000 genomes]
rs73118104	1.00[AMR][1000 genomes]
rs73118106	1.00[AMR][1000 genomes]
rs73118108	1.00[AMR][1000 genomes]
rs73118111	1.00[AMR][1000 genomes]
rs73118118	1.00[AMR][1000 genomes]
rs73118120	1.00[AMR][1000 genomes]
rs73118121	1.00[AMR][1000 genomes]
rs73120209	1.00[AMR][1000 genomes]
rs73120240	1.00[AMR][1000 genomes]
rs73120248	1.00[AMR][1000 genomes]
rs73120252	1.00[AMR][1000 genomes]
rs73120270	1.00[AMR][1000 genomes]
rs73120271	1.00[AMR][1000 genomes]
rs73120274	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223184800-223204800	Weak transcription	Stomach Mucosa	stomach
2	chr1:223197800-223204800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:223200000-223204400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:223202000-223204400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:223203200-223205400	Weak transcription	Left Ventricle	heart
6	chr1:223203200-223206800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:223203400-223204600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:223203400-223204800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:223203400-223205600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:223203400-223205600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:223203400-223206200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:223203600-223204600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:223203600-223205000	Enhancers	Hela-S3	cervix
14	chr1:223203800-223204600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:223203800-223205000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:223203800-223205200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:223203800-223205600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:223204000-223204600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:223204000-223204800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:223204000-223205000	Enhancers	Brain Germinal Matrix	brain
21	chr1:223204000-223205200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:223204000-223205800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:223204000-223206000	Enhancers	Fetal Muscle Leg	muscle
24	chr1:223204200-223204400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:223204200-223204400	Enhancers	Right Ventricle	heart
26	chr1:223204200-223204800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:223204200-223204800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:223204200-223205000	Enhancers	Fetal Intestine Large	intestine
29	chr1:223204200-223205200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:223204200-223205400	Genic enhancers	Right Atrium	heart

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