Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:179073555..179076011-chr2:179081432..179084304,2	K562	blood:
2	chr2:179081675..179083838-chr2:179087556..179089889,2	MCF-7	breast:
3	chr2:179076705..179078596-chr2:179080919..179084346,3	K562	blood:
4	chr2:179081368..179083076-chr2:179277206..179278711,2	K562	blood:
5	chr2:179081726..179084157-chr2:179092219..179094930,2	K562	blood:
6	chr2:179076997..179079458-chr2:179080638..179082932,3	K562	blood:

Variant related genes	Relation type
ENSG00000223960	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs101266	0.80[JPT][hapmap]
rs10197166	0.82[JPT][hapmap]
rs10930827	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12185670	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs13029471	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13403689	0.80[JPT][hapmap]
rs147180	0.80[JPT][hapmap]
rs186736	0.86[JPT][hapmap]
rs2366157	0.86[JPT][hapmap]
rs333997	0.82[JPT][hapmap]
rs334024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334029	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334035	0.82[JPT][hapmap]
rs334037	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs334041	0.80[JPT][hapmap]
rs334043	0.82[JPT][hapmap]
rs334044	0.80[JPT][hapmap]
rs334102	0.80[JPT][hapmap]
rs334103	0.80[JPT][hapmap]
rs334110	0.80[JPT][hapmap]
rs551368	0.80[JPT][hapmap]
rs6719178	0.86[JPT][hapmap]
rs7419749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7581504	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179076600-179087600	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:179076600-179088000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:179077200-179088200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:179077200-179089600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:179078600-179086200	Weak transcription	HMEC	breast
6	chr2:179078600-179091800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:179078800-179084200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:179078800-179088400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:179079000-179084200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:179079000-179088200	Weak transcription	Fetal Brain Female	brain
11	chr2:179079000-179101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:179081000-179082800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:179081600-179083200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:179081600-179085400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:179081800-179083800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:179082000-179083600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:179082400-179084200	Weak transcription	Psoas Muscle	Psoas

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