Variant report

Variant	rs17049318
Chromosome Location	chr2:58264510-58264511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58247203..58248924-chr2:58262338..58265214,2	MCF-7	breast:
2	chr2:58257859..58260468-chr2:58264282..58266737,2	MCF-7	breast:
3	chr2:58263006..58264985-chr2:58266495..58268240,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10445895	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10445896	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17049243	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs17049247	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs17049270	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17049296	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17049298	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17049334	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049339	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049351	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049366	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771211	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771212	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246409	0.84[ASN][1000 genomes]
rs57471952	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59378271	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60152647	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73942293	0.93[EUR][1000 genomes]
rs7577299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58251400-58272000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:58255600-58267600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:58256600-58271800	Weak transcription	Left Ventricle	heart
4	chr2:58256800-58272800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:58256800-58273000	Weak transcription	Pancreas	Pancrea
6	chr2:58258200-58271800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:58258400-58273000	Weak transcription	Liver	Liver
8	chr2:58258600-58272000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:58258800-58273000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:58259400-58269400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:58260000-58272800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:58260200-58271800	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:58260400-58273400	Weak transcription	Ovary	ovary
14	chr2:58262200-58273000	Weak transcription	Psoas Muscle	Psoas
15	chr2:58263000-58265200	Weak transcription	Primary B cells from cord blood	blood
16	chr2:58263000-58265800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:58263000-58272800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:58263800-58265600	ZNF genes & repeats	GM12878-XiMat	blood
19	chr2:58264200-58265800	Strong transcription	Primary hematopoietic stem cells	blood
20	chr2:58264400-58266800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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