Variant report

Variant	rs2609961
Chromosome Location	chr2:30876649-30876650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30859134..30861368-chr2:30876511..30879135,2	K562	blood:
2	chr2:30872918..30875377-chr2:30876249..30879009,2	K562	blood:
3	chr2:30873034..30877433-chr2:30878993..30882629,5	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1060737	0.81[ASN][1000 genomes]
rs11127281	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11692096	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11895131	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11901266	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1252632	0.81[ASN][1000 genomes]
rs1252633	0.81[ASN][1000 genomes]
rs1286	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17395007	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17395091	0.84[AMR][1000 genomes]
rs1807334	0.81[ASN][1000 genomes]
rs1869422	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2244911	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2250956	0.81[ASN][1000 genomes]
rs2262947	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2593436	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2593445	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2593473	0.89[AFR][1000 genomes]
rs2602781	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602795	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602796	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602803	0.89[AFR][1000 genomes]
rs2602809	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2609919	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2609920	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2609944	0.81[ASN][1000 genomes]
rs2609957	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7559747	0.89[AFR][1000 genomes]
rs829621	0.81[ASN][1000 genomes]
rs829624	0.81[ASN][1000 genomes]
rs829625	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:27 , 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	chr2:30860400-30878200	Weak transcription	NHLF	lung
4	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
5	chr2:30863600-30882200	Weak transcription	Ovary	ovary
6	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:30865200-30878200	Weak transcription	A549	lung
8	chr2:30869200-30878000	Weak transcription	Psoas Muscle	Psoas
9	chr2:30872400-30878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:30872400-30878200	Weak transcription	Left Ventricle	heart
11	chr2:30872600-30877600	Weak transcription	HSMMtube	muscle
12	chr2:30873000-30876800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:30875200-30879400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:30875800-30877600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:30876200-30877000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:30876200-30879600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:30876400-30878000	Enhancers	HSMM	muscle
18	chr2:30876400-30879200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:30876400-30879800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:30876400-30879800	Enhancers	NHDF-Ad	bronchial
21	chr2:30876400-30880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:30876600-30876800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:30876600-30877000	Enhancers	Right Ventricle	heart
24	chr2:30876600-30877400	Enhancers	NH-A	brain
25	chr2:30876600-30877400	Enhancers	Osteobl	bone
26	chr2:30876600-30878000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:30876600-30879400	Enhancers	Skeletal Muscle Female	skeletal muscle

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