Variant report

Variant	rs2964690
Chromosome Location	chr5:116069685-116069686
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs26670	0.84[EUR][1000 genomes]
rs27544	0.84[EUR][1000 genomes]
rs28035	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2909815	0.88[ASN][1000 genomes]
rs2909816	0.83[ASN][1000 genomes]
rs2909817	0.86[ASN][1000 genomes]
rs2909818	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2909820	0.86[EUR][1000 genomes]
rs2909821	0.86[EUR][1000 genomes]
rs2909824	0.83[EUR][1000 genomes]
rs2909826	0.86[EUR][1000 genomes]
rs2909827	0.88[EUR][1000 genomes]
rs2933594	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2933595	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2933596	0.83[ASN][1000 genomes]
rs2933597	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2933624	0.81[EUR][1000 genomes]
rs2933636	0.81[EUR][1000 genomes]
rs2964685	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2964686	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964687	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964688	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2964689	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964691	0.86[ASN][1000 genomes]
rs35210657	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs455408	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs872411	0.84[EUR][1000 genomes]
rs878401	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763490	chr5:115918339-116138525	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116065600-116069800	Weak transcription	Left Ventricle	heart
2	chr5:116068000-116069800	Weak transcription	Placenta	Placenta
3	chr5:116068000-116070000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:116068000-116071000	Enhancers	Colon Smooth Muscle	Colon
5	chr5:116068200-116070600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:116068400-116076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:116068800-116071200	Enhancers	Rectal Smooth Muscle	rectum
8	chr5:116069000-116071200	Enhancers	Fetal Lung	lung
9	chr5:116069200-116070200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:116069200-116071200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:116069400-116070000	Enhancers	Stomach Smooth Muscle	stomach
12	chr5:116069400-116070400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:116069400-116070600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:116069400-116070600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:116069400-116070600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:116069400-116070800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:116069400-116070800	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:116069400-116071000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:116069400-116071200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:116069400-116071400	Enhancers	Fetal Heart	heart
21	chr5:116069600-116070000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr5:116069600-116070000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:116069600-116070200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:116069600-116070400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:116069600-116070400	Enhancers	Ovary	ovary
26	chr5:116069600-116070600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:116069600-116070600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr5:116069600-116070600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:116069600-116070800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:116069600-116070800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:116069600-116071000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:116069600-116071000	Enhancers	Fetal Muscle Leg	muscle
33	chr5:116069600-116071000	Enhancers	Fetal Stomach	stomach
34	chr5:116069600-116071000	Enhancers	Right Ventricle	heart
35	chr5:116069600-116071000	Enhancers	Small Intestine	intestine
36	chr5:116069600-116071200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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