Variant report

Variant	rs7581504
Chromosome Location	chr2:179082987-179082988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr2:179082696..179084962-chr2:179087856..179090236,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223960	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10197166	0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10930827	0.81[JPT][hapmap]
rs13403689	1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs186736	0.93[JPT][hapmap]
rs2366157	0.94[ASW][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs333996	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs334005	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs334007	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs334017	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs334024	0.81[JPT][hapmap]
rs334028	0.80[JPT][hapmap]
rs334035	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs334037	0.80[JPT][hapmap]
rs334040	0.84[CHB][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap]
rs334041	0.86[JPT][hapmap]
rs334042	0.84[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap]
rs334043	0.86[JPT][hapmap]
rs334044	0.86[JPT][hapmap]
rs334045	0.84[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap]
rs334102	1.00[JPT][hapmap]
rs334103	1.00[JPT][hapmap]
rs334110	0.92[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6719178	1.00[CHD][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.88[ASN][1000 genomes]
rs6747743	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73028670	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73028675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7419749	0.81[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	chr2:179081600-179083200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:179081600-179085400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:179081800-179083800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:179082000-179083600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:179082400-179084200	Weak transcription	Psoas Muscle	Psoas
17	chr2:179082800-179086000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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