Variant report

Variant	rs1731949
Chromosome Location	chr7:137079227-137079228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1612615	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1647174	1.00[AFR][1000 genomes]
rs1647178	1.00[AFR][1000 genomes]
rs1647180	1.00[AFR][1000 genomes]
rs1669028	1.00[AFR][1000 genomes]
rs320718	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs322330	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv889242	chr7:137005808-137081223	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv981853	chr7:137057411-137080952	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 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	chr7:137066200-137084800	Weak transcription	HSMM	muscle
2	chr7:137070200-137087000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:137071000-137083400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:137073600-137086600	Weak transcription	Fetal Brain Female	brain
5	chr7:137073800-137081200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:137073800-137095600	Weak transcription	HSMMtube	muscle
7	chr7:137074000-137084800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:137074400-137084000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:137075000-137080200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:137075000-137080200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:137075000-137087000	Weak transcription	Brain Anterior Caudate	brain
12	chr7:137075200-137084800	Weak transcription	Fetal Heart	heart
13	chr7:137075400-137080200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:137076000-137080000	Weak transcription	Aorta	Aorta
15	chr7:137076000-137081000	Weak transcription	Osteobl	bone
16	chr7:137076000-137087000	Weak transcription	Fetal Stomach	stomach
17	chr7:137076400-137081200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:137077400-137081000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:137077800-137086400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:137078600-137082000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:137079200-137079800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:137079200-137080400	Weak transcription	Brain Germinal Matrix	brain
23	chr7:137079200-137082000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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