Variant report

Variant	rs4672009
Chromosome Location	chr2:55282774-55282775
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	chr2:55282373..55283908-chr2:55365419..55368090,2	K562	blood:
2	chr2:55280650..55283253-chr2:55298459..55300307,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1012603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10496034	0.82[EUR][1000 genomes]
rs10496040	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11887323	0.82[ASN][1000 genomes]
rs17046514	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17046518	0.85[AMR][1000 genomes]
rs17046583	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17046643	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17046658	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2028728	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2255026	0.83[AFR][1000 genomes]
rs2580771	0.83[AFR][1000 genomes]
rs2588515	0.83[AFR][1000 genomes]
rs2588516	0.83[AFR][1000 genomes]
rs2588522	0.83[AFR][1000 genomes]
rs2919126	0.83[AFR][1000 genomes]
rs34378852	0.83[AFR][1000 genomes]
rs4233955	0.82[EUR][1000 genomes]
rs4671993	0.80[EUR][1000 genomes]
rs4671995	0.82[EUR][1000 genomes]
rs4671997	0.82[EUR][1000 genomes]
rs4672006	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4672011	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57737203	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60553807	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60989687	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6545464	0.83[AFR][1000 genomes]
rs6734314	0.83[AFR][1000 genomes]
rs6739210	0.83[AFR][1000 genomes]
rs73936818	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73936829	0.90[EUR][1000 genomes];0.91[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	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 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	chr2:55278200-55288800	Weak transcription	Lung	lung
2	chr2:55278800-55283200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:55278800-55283200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:55278800-55288600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:55278800-55290800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:55279000-55283200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:55279000-55287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:55279000-55290600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:55279400-55283000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:55279400-55283200	Weak transcription	Osteobl	bone
11	chr2:55279400-55283400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:55279400-55283400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:55279400-55287600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:55279600-55283000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:55279600-55283200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:55279800-55283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:55279800-55283200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:55279800-55283200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:55279800-55283200	Weak transcription	NHDF-Ad	bronchial
20	chr2:55279800-55284200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:55279800-55284400	Weak transcription	Fetal Heart	heart
22	chr2:55279800-55287400	Weak transcription	HSMM	muscle
23	chr2:55280000-55282800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:55280000-55283000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:55280000-55283200	Weak transcription	HMEC	breast
26	chr2:55280000-55289000	Weak transcription	HepG2	liver
27	chr2:55280200-55283200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:55280200-55283200	Weak transcription	A549	lung
29	chr2:55280200-55287200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:55280200-55288200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:55280400-55282800	Enhancers	Fetal Thymus	thymus
32	chr2:55281800-55287600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:55282000-55283200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:55282000-55283200	Weak transcription	K562	blood
35	chr2:55282400-55283400	Weak transcription	GM12878-XiMat	blood
36	chr2:55282600-55282800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:55282600-55283000	Weak transcription	Primary B cells from cord blood	blood

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