Variant report

Variant	rs6720559
Chromosome Location	chr2:179257981-179257982
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10179153	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10207436	0.83[YRI][hapmap]
rs10930831	0.84[YRI][hapmap]
rs1434085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1434095	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs2114582	0.93[YRI][hapmap]
rs2288322	0.83[YRI][hapmap]
rs2366601	0.91[ASN][1000 genomes]
rs6757186	0.98[ASN][1000 genomes]
rs7589679	0.84[YRI][hapmap]
rs890579	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs919177	0.97[ASN][1000 genomes]
rs9288019	0.83[YRI][hapmap]

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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179201800-179268200	Weak transcription	HSMM	muscle
2	chr2:179240000-179258200	Weak transcription	NHEK	skin
3	chr2:179241800-179262600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:179242200-179258600	Weak transcription	Brain Germinal Matrix	brain
5	chr2:179249000-179262600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:179249000-179269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:179249400-179259400	Weak transcription	Left Ventricle	heart
8	chr2:179249600-179259800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:179249600-179264000	Weak transcription	Aorta	Aorta
10	chr2:179250800-179266000	Weak transcription	K562	blood
11	chr2:179251000-179268600	Weak transcription	NH-A	brain
12	chr2:179252000-179261000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:179252200-179264200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:179252400-179259000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:179252400-179262000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:179253200-179269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:179253600-179262800	Weak transcription	Liver	Liver
18	chr2:179253600-179266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:179254600-179262000	Weak transcription	Brain Anterior Caudate	brain
20	chr2:179254600-179262000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:179255000-179269200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:179255200-179262200	Weak transcription	HSMMtube	muscle
23	chr2:179255400-179261200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:179255400-179262200	Weak transcription	Fetal Brain Female	brain
25	chr2:179255400-179265000	Weak transcription	Psoas Muscle	Psoas
26	chr2:179255600-179268600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:179256000-179258800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:179256000-179269200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:179256200-179269200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:179256200-179269200	Weak transcription	HMEC	breast
31	chr2:179257200-179261200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:179257400-179260600	Weak transcription	NHDF-Ad	bronchial
33	chr2:179257400-179266800	Weak transcription	Muscle Satellite Cultured Cells	--

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