Variant report

Variant	rs17719312
Chromosome Location	chr1:154766548-154766549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10908440	0.89[CHD][hapmap]
rs11584635	0.85[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11590325	0.84[JPT][hapmap]
rs12133662	0.86[JPT][hapmap]
rs1419110	0.85[CHD][hapmap]
rs1891806	0.85[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs72700254	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72700255	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72700257	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv872452	chr1:154750989-154769561	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154756000-154767200	Enhancers	Fetal Thymus	thymus
2	chr1:154760600-154768200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:154763800-154766600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:154764600-154768800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:154764600-154770000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:154764600-154773800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:154764600-154778400	Weak transcription	Right Atrium	heart
8	chr1:154764600-154779400	Weak transcription	Spleen	Spleen
9	chr1:154764800-154767600	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:154764800-154772200	Weak transcription	Fetal Stomach	stomach
11	chr1:154764800-154782600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:154765000-154775200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:154765400-154772400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:154765600-154767000	Enhancers	GM12878-XiMat	blood
15	chr1:154765600-154775600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:154765800-154775800	Weak transcription	Brain Anterior Caudate	brain
17	chr1:154766400-154766600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr1:154766400-154766800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:154766400-154768000	Weak transcription	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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