Variant report

Variant	rs1218552
Chromosome Location	chr1:154799310-154799311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154798816..154800584-chr1:154801106..154802800,2	MCF-7	breast:
2	chr1:154529223..154531101-chr1:154799055..154800739,2	K562	blood:
3	chr1:154796744..154800143-chr1:154801443..154804001,3	K562	blood:
4	chr1:154797801..154799752-chr1:154801392..154804164,2	K562	blood:
5	chr1:154750548..154753894-chr1:154799055..154801414,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1010225	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1218551	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1218553	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];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1218598	0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2798604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr1:154786600-154801800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:154787000-154800400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:154787000-154805400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:154792800-154800200	Weak transcription	Gastric	stomach
5	chr1:154792800-154805800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:154793600-154803600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:154794400-154799600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:154794600-154802800	Weak transcription	Right Ventricle	heart
9	chr1:154795600-154799600	Weak transcription	Brain Germinal Matrix	brain
10	chr1:154795800-154800800	Weak transcription	HSMMtube	muscle
11	chr1:154796000-154801800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:154796400-154801200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:154797400-154801600	Weak transcription	Fetal Brain Female	brain
14	chr1:154797400-154801600	Weak transcription	Psoas Muscle	Psoas
15	chr1:154797800-154800600	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:154797800-154801000	Weak transcription	GM12878-XiMat	blood
17	chr1:154797800-154803200	Weak transcription	Fetal Brain Male	brain
18	chr1:154797800-154803200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:154799200-154801600	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:154799200-154803600	Weak transcription	Fetal Stomach	stomach

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