Variant report

Variant	rs1579050
Chromosome Location	chr2:153364527-153364528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153364136..153366729-chr2:153467251..153469526,2	MCF-7	breast:
2	chr2:153361979..153364845-chr2:153366999..153370828,3	K562	blood:
3	chr2:153362103..153364845-chr2:153366999..153369468,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10169514	0.90[ASN][1000 genomes]
rs10191361	0.90[ASN][1000 genomes]
rs11902693	0.90[ASN][1000 genomes]
rs12471183	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878632	0.90[ASN][1000 genomes]
rs2346206	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811574	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55882252	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180804	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434068	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714213	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742066	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153348800-153370200	Weak transcription	Aorta	Aorta
2	chr2:153354600-153364600	Weak transcription	Left Ventricle	heart
3	chr2:153354600-153365200	Weak transcription	Pancreas	Pancrea
4	chr2:153356000-153364600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:153356800-153364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:153356800-153365000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:153357000-153364800	Weak transcription	Fetal Lung	lung
8	chr2:153357200-153365000	Weak transcription	Fetal Stomach	stomach
9	chr2:153357400-153364600	Weak transcription	Psoas Muscle	Psoas
10	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
11	chr2:153357600-153365000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:153357600-153365200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:153358200-153364600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:153358200-153365000	Weak transcription	Fetal Brain Female	brain
15	chr2:153360400-153365000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:153360800-153365600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:153361000-153364600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:153361000-153365600	Enhancers	Osteobl	bone
19	chr2:153361000-153365800	Enhancers	NH-A	brain
20	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:153361200-153365400	Flanking Active TSS	A549	lung
22	chr2:153361200-153365600	Enhancers	HMEC	breast
23	chr2:153361200-153365600	Enhancers	HUVEC	blood vessel
24	chr2:153361200-153365800	Enhancers	Brain Hippocampus Middle	brain
25	chr2:153361600-153369800	Weak transcription	NHDF-Ad	bronchial
26	chr2:153361800-153365600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:153362000-153365600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:153362400-153364600	Weak transcription	Fetal Heart	heart
29	chr2:153362400-153364600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:153362400-153364600	Weak transcription	HSMM	muscle
31	chr2:153362400-153364800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:153362400-153364800	Weak transcription	HSMMtube	muscle
33	chr2:153362400-153365000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:153362400-153365200	Weak transcription	Ovary	ovary
35	chr2:153362400-153379400	Weak transcription	Fetal Brain Male	brain
36	chr2:153362600-153364600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:153362600-153364800	Weak transcription	Brain Anterior Caudate	brain
38	chr2:153362600-153365600	Enhancers	Brain Substantia Nigra	brain
39	chr2:153362800-153365000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:153363200-153365600	Enhancers	Brain Angular Gyrus	brain
41	chr2:153363400-153364600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:153363400-153365600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:153363400-153365600	Enhancers	HepG2	liver
44	chr2:153363400-153365800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:153363600-153365000	Weak transcription	Fetal Kidney	kidney
46	chr2:153363600-153365200	Enhancers	NHEK	skin
47	chr2:153363600-153365800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:153363800-153365000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:153363800-153369800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:153364000-153365400	Enhancers	GM12878-XiMat	blood

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