Variant report

Variant	rs13175716
Chromosome Location	chr5:180076129-180076130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13176898	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1382302	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs307812	0.84[ASN][1000 genomes]
rs307813	0.85[ASN][1000 genomes]
rs307814	0.85[ASN][1000 genomes]
rs307815	0.85[ASN][1000 genomes]
rs307816	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
2	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
6	esv2762572	chr5:179996987-180183359	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv533204	chr5:180008319-180273638	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
8	nsv883294	chr5:180010639-180094042	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv883295	chr5:180010639-180102226	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1015152	chr5:180014800-180567614	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
11	nsv537987	chr5:180014800-180567614	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
12	nsv883297	chr5:180033292-180094042	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1824954	chr5:180034220-180080178	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv883298	chr5:180047412-180081766	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1034993	chr5:180059323-180686563	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	161 gene(s)	inside rSNPs	diseases
16	nsv534263	chr5:180063182-180696806	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	166 gene(s)	inside rSNPs	diseases
17	nsv1033330	chr5:180063241-180256969	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv537988	chr5:180063241-180256969	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
19	nsv830565	chr5:180067633-180191643	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv1029282	chr5:180069992-180251755	Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv1025669	chr5:180069992-180686563	Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	161 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180075200-180076800	Active TSS	Lung	lung
2	chr5:180075400-180076800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
3	chr5:180075400-180077000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:180075400-180077000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
5	chr5:180075400-180077200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr5:180075400-180077600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:180075400-180077600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:180075600-180076200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:180075600-180076200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr5:180075600-180076200	Flanking Active TSS	Spleen	Spleen
11	chr5:180075600-180076400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
12	chr5:180075600-180076600	Flanking Bivalent TSS/Enh	Dnd41	blood
13	chr5:180075600-180077000	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr5:180075600-180077200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
15	chr5:180075600-180077400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr5:180075600-180077400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr5:180075600-180077400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:180075600-180077400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:180075600-180077400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr5:180075600-180077600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:180075600-180077600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr5:180075600-180077600	Bivalent/Poised TSS	Psoas Muscle	Psoas
23	chr5:180075600-180077600	Active TSS	Right Atrium	heart
24	chr5:180075800-180076200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr5:180075800-180076200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:180075800-180076200	Enhancers	Liver	Liver
27	chr5:180075800-180076200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr5:180075800-180076200	Flanking Active TSS	Pancreas	Pancrea
29	chr5:180075800-180076400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr5:180075800-180076400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr5:180075800-180076400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:180075800-180076400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
33	chr5:180075800-180076400	Flanking Bivalent TSS/Enh	Thymus	Thymus
34	chr5:180075800-180076600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:180075800-180076600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:180075800-180076600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:180075800-180076600	Bivalent/Poised TSS	K562	blood
38	chr5:180075800-180076800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:180075800-180076800	Enhancers	Brain Anterior Caudate	brain
40	chr5:180075800-180076800	Bivalent/Poised TSS	Ovary	ovary
41	chr5:180075800-180076800	Active TSS	A549	lung
42	chr5:180075800-180076800	Bivalent/Poised TSS	HUVEC	blood vessel
43	chr5:180075800-180077000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:180075800-180077000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr5:180075800-180077200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr5:180075800-180077200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
47	chr5:180075800-180077200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
48	chr5:180075800-180077400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr5:180075800-180077400	Bivalent/Poised TSS	NH-A	brain
50	chr5:180075800-180077600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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