Variant report

Variant	rs2609957
Chromosome Location	chr2:30872267-30872268
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30870789..30872377-chr2:30883033..30885539,2	K562	blood:
2	chr2:30869127..30871765-chr2:30871926..30874749,3	K562	blood:
3	chr2:30864804..30866571-chr2:30870628..30873251,2	MCF-7	breast:
4	chr2:30867045..30872289-chr2:30881194..30886841,8	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1060737	0.86[ASN][1000 genomes]
rs11127281	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11692096	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11895131	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11901266	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1252627	0.82[EUR][1000 genomes]
rs1252632	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1252633	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1252634	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1252635	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1286	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17395007	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17395091	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1807334	0.86[ASN][1000 genomes]
rs1869422	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2244911	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2250956	0.86[ASN][1000 genomes]
rs2253299	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2262947	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2593436	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593445	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2593446	0.83[ASN][1000 genomes]
rs2593473	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2602781	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602795	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602796	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602803	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2602809	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2609919	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2609920	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2609944	0.86[ASN][1000 genomes]
rs2609961	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73922662	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7559747	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829621	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829624	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829625	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv581266	chr2:30864789-30874229	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:30860400-30878200	Weak transcription	NHLF	lung
6	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
7	chr2:30863600-30882200	Weak transcription	Ovary	ovary
8	chr2:30864000-30874800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:30864800-30875200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:30864800-30876600	Weak transcription	Osteobl	bone
11	chr2:30865000-30875200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:30865200-30873000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:30865200-30878200	Weak transcription	A549	lung
15	chr2:30869200-30878000	Weak transcription	Psoas Muscle	Psoas
16	chr2:30871400-30873600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:30871600-30872400	Enhancers	Lung	lung
18	chr2:30871600-30873000	Enhancers	Fetal Muscle Leg	muscle
19	chr2:30871800-30872400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:30871800-30872400	Enhancers	Left Ventricle	heart
21	chr2:30871800-30872400	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:30871800-30872600	Enhancers	HSMMtube	muscle
23	chr2:30872000-30872400	Enhancers	Fetal Stomach	stomach
24	chr2:30872000-30872600	Enhancers	Right Ventricle	heart
25	chr2:30872000-30872600	Enhancers	NHDF-Ad	bronchial
26	chr2:30872200-30872400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:30872200-30872400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:30872200-30872400	Enhancers	Aorta	Aorta
29	chr2:30872200-30872600	Enhancers	Colonic Mucosa	Colon
30	chr2:30872200-30872600	ZNF genes & repeats	Spleen	Spleen
31	chr2:30872200-30873000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:30872200-30873000	Enhancers	Fetal Muscle Trunk	muscle
33	chr2:30872200-30873600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:30872200-30876600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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