Variant report

Variant	rs45550040
Chromosome Location	chr1:74891140-74891141
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1067847	1.00[AMR][1000 genomes]
rs17095389	1.00[AMR][1000 genomes]
rs17095391	1.00[AMR][1000 genomes]
rs17095394	1.00[AMR][1000 genomes]
rs17095399	1.00[AMR][1000 genomes]
rs17095400	1.00[AMR][1000 genomes]
rs2100212	1.00[AMR][1000 genomes]
rs45440691	1.00[AMR][1000 genomes]
rs45502291	1.00[AMR][1000 genomes]
rs45510894	1.00[AMR][1000 genomes]
rs45518034	1.00[AMR][1000 genomes]
rs45555731	1.00[AMR][1000 genomes]
rs45575343	1.00[AMR][1000 genomes]
rs45596933	1.00[AMR][1000 genomes]
rs45619234	1.00[AMR][1000 genomes]
rs45627331	1.00[AMR][1000 genomes]
rs472013	1.00[AMR][1000 genomes]
rs472269	1.00[AMR][1000 genomes]
rs480964	1.00[AMR][1000 genomes]
rs483187	1.00[AMR][1000 genomes]
rs485729	1.00[AMR][1000 genomes]
rs488112	1.00[AMR][1000 genomes]
rs488263	1.00[AMR][1000 genomes]
rs493778	1.00[AMR][1000 genomes]
rs494008	1.00[AMR][1000 genomes]
rs495394	1.00[AMR][1000 genomes]
rs498287	1.00[AMR][1000 genomes]
rs499551	1.00[AMR][1000 genomes]
rs510691	1.00[AMR][1000 genomes]
rs513169	1.00[AMR][1000 genomes]
rs515599	1.00[AMR][1000 genomes]
rs517169	1.00[AMR][1000 genomes]
rs524086	1.00[AMR][1000 genomes]
rs525658	1.00[AMR][1000 genomes]
rs527509	1.00[AMR][1000 genomes]
rs531116	1.00[AMR][1000 genomes]
rs536656	1.00[AMR][1000 genomes]
rs536804	1.00[AMR][1000 genomes]
rs540990	1.00[AMR][1000 genomes]
rs541086	1.00[AMR][1000 genomes]
rs541819	1.00[AMR][1000 genomes]
rs541962	1.00[AMR][1000 genomes]
rs543499	1.00[AMR][1000 genomes]
rs543839	1.00[AMR][1000 genomes]
rs548802	1.00[AMR][1000 genomes]
rs554217	1.00[AMR][1000 genomes]
rs554910	1.00[AMR][1000 genomes]
rs563072	1.00[AMR][1000 genomes]
rs565929	1.00[AMR][1000 genomes]
rs56659298	1.00[AMR][1000 genomes]
rs570273	1.00[AMR][1000 genomes]
rs573723	1.00[AMR][1000 genomes]
rs579070	1.00[AMR][1000 genomes]
rs61731320	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1002903	chr1:74831209-74993866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74878600-74898800	Weak transcription	Left Ventricle	heart
2	chr1:74887200-74894000	Enhancers	Fetal Heart	heart
3	chr1:74888600-74891600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:74888600-74891800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:74888800-74891200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:74889200-74891400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:74889200-74891800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:74890200-74891200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:74890200-74891600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:74890600-74891600	Enhancers	Ovary	ovary
11	chr1:74890600-74892400	Enhancers	Rectal Smooth Muscle	rectum
12	chr1:74890800-74893200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:74891000-74891400	Enhancers	Stomach Smooth Muscle	stomach

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