Variant report

Variant	rs73091223
Chromosome Location	chr1:212293356-212293357
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	chr1:212291193..212294935-chr1:212295149..212298411,5	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11809441	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56810476	1.00[EUR][1000 genomes]
rs57157835	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57901353	0.85[AMR][1000 genomes]
rs73091229	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091246	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091249	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091261	0.85[AMR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212274200-212301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212274400-212308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:212277000-212298200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:212280000-212299600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:212281200-212308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:212283800-212300400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:212284000-212298400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:212284400-212294600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:212284400-212294600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:212284400-212300400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:212285000-212303200	Weak transcription	Fetal Stomach	stomach
12	chr1:212285400-212299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:212285600-212311200	Weak transcription	Hela-S3	cervix
14	chr1:212285800-212298400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:212286600-212298200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:212287400-212320600	Weak transcription	A549	lung
17	chr1:212287600-212298200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:212287800-212298200	Weak transcription	Fetal Thymus	thymus
19	chr1:212290800-212296200	Strong transcription	Dnd41	blood
20	chr1:212291600-212293400	Enhancers	Fetal Heart	heart
21	chr1:212291600-212293600	Enhancers	Stomach Mucosa	stomach
22	chr1:212291800-212293600	Enhancers	Psoas Muscle	Psoas
23	chr1:212292000-212293600	Enhancers	Gastric	stomach
24	chr1:212292000-212293600	Enhancers	Right Atrium	heart
25	chr1:212292200-212294200	Weak transcription	K562	blood
26	chr1:212292200-212295000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:212292400-212293400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr1:212292600-212314600	Weak transcription	Thymus	Thymus
29	chr1:212292800-212293400	Flanking Active TSS	HepG2	liver
30	chr1:212292800-212295400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:212292800-212298400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:212293000-212298200	Weak transcription	Esophagus	oesophagus
33	chr1:212293000-212300400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:212293200-212298200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:212293200-212298400	Weak transcription	Left Ventricle	heart
36	chr1:212293200-212299600	Weak transcription	Spleen	Spleen
37	chr1:212293200-212313200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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