Variant report

Variant	rs7731549
Chromosome Location	chr5:99891592-99891593
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17157638	1.00[AMR][1000 genomes]
rs6860745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6865027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6865473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7700295	1.00[AMR][1000 genomes]
rs7711975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7712693	1.00[AMR][1000 genomes]
rs7713031	1.00[AMR][1000 genomes]
rs7715565	1.00[AMR][1000 genomes]
rs7723188	1.00[AMR][1000 genomes]
rs7723714	1.00[AMR][1000 genomes]
rs7736588	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599165	chr5:99469004-100063039	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv882461	chr5:99745767-99927338	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv882462	chr5:99745767-100060150	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1025132	chr5:99745775-99896429	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1025890	chr5:99745775-99936186	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv882463	chr5:99784116-99898851	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv882464	chr5:99784116-99905367	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv882465	chr5:99784116-99927338	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv1018395	chr5:99827242-100003207	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv2763473	chr5:99883352-99907664	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99872400-99931400	Weak transcription	Aorta	Aorta
2	chr5:99872600-99922800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:99872800-99902000	Weak transcription	HSMM	muscle
4	chr5:99872800-99916200	Weak transcription	Ovary	ovary
5	chr5:99873400-99897000	Weak transcription	Primary T cells from cord blood	blood
6	chr5:99873400-99916200	Weak transcription	Fetal Stomach	stomach
7	chr5:99873400-99930600	Weak transcription	NH-A	brain
8	chr5:99874000-99897800	Weak transcription	Adipose Nuclei	Adipose
9	chr5:99878400-99930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:99879600-99897600	Weak transcription	Primary B cells from cord blood	blood
11	chr5:99880600-99897800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:99882200-99899200	Weak transcription	Left Ventricle	heart
13	chr5:99884000-99910400	Weak transcription	HUVEC	blood vessel
14	chr5:99886600-99897800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:99886800-99897800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:99886800-99899400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:99886800-99930200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:99887000-99897800	Weak transcription	Fetal Lung	lung
19	chr5:99887200-99896600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:99887200-99897800	Weak transcription	GM12878-XiMat	blood
21	chr5:99887200-99912000	Weak transcription	Psoas Muscle	Psoas
22	chr5:99887200-99916200	Weak transcription	Lung	lung
23	chr5:99887200-99924600	Weak transcription	Fetal Thymus	thymus
24	chr5:99887600-99899600	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:99887600-99907200	Weak transcription	Pancreas	Pancrea
26	chr5:99887800-99896400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:99887800-99898200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:99889600-99898800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:99889800-99898200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:99889800-99898600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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