Variant report

Variant	rs61776248
Chromosome Location	chr1:74892337-74892338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17095265	0.84[EUR][1000 genomes]
rs17095295	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274575	0.81[ASN][1000 genomes]
rs4650265	0.81[ASN][1000 genomes]
rs56188871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6697607	0.84[EUR][1000 genomes]
rs72675304	0.84[EUR][1000 genomes]
rs7517677	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][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:23 , 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	chr1:74890600-74892400	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:74890800-74893200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:74891200-74892400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:74891200-74892400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:74891200-74892800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:74891200-74893400	Enhancers	NH-A	brain
9	chr1:74891400-74892400	Enhancers	HSMMtube	muscle
10	chr1:74891400-74892600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:74891400-74892800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:74891600-74892400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:74891800-74892400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:74891800-74892400	Enhancers	Brain Angular Gyrus	brain
15	chr1:74891800-74892400	Enhancers	Colon Smooth Muscle	Colon
16	chr1:74891800-74892600	Enhancers	Right Atrium	heart
17	chr1:74891800-74893000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:74892000-74892400	Enhancers	Fetal Brain Female	brain
19	chr1:74892200-74892400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:74892200-74892400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:74892200-74892400	Enhancers	Ovary	ovary
22	chr1:74892200-74892600	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:74892200-74893600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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