Variant report

Variant	rs2933594
Chromosome Location	chr5:116073115-116073116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:116073007..116074570-chr5:116076302..116077894,2	K562	blood:

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

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

rs_ID	r²[population]
rs26670	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs27544	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28035	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2909815	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2909816	0.86[ASN][1000 genomes]
rs2909817	0.83[ASN][1000 genomes]
rs2909818	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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]
rs2933595	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2933596	0.86[ASN][1000 genomes]
rs2933597	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2933624	0.81[EUR][1000 genomes]
rs2933636	0.81[EUR][1000 genomes]
rs2964685	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2964686	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2964689	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2964690	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964691	0.83[ASN][1000 genomes]
rs35210657	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs455408	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs872411	0.84[EUR][1000 genomes]
rs878401	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116068400-116076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:116070200-116073800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:116070200-116074000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:116070400-116074000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:116070400-116074200	Weak transcription	Ovary	ovary
6	chr5:116070400-116074800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:116070600-116073400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:116070600-116073400	Weak transcription	Lung	lung
9	chr5:116070600-116073600	Weak transcription	Esophagus	oesophagus
10	chr5:116070600-116073800	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:116070600-116074000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:116070600-116074000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:116070600-116074000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:116070600-116074000	Weak transcription	Left Ventricle	heart
15	chr5:116070600-116074000	Weak transcription	Right Atrium	heart
16	chr5:116070600-116074200	Weak transcription	Placenta	Placenta
17	chr5:116070600-116076200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:116070600-116076600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:116070800-116073200	Weak transcription	Fetal Brain Male	brain
20	chr5:116070800-116073200	Weak transcription	Fetal Brain Female	brain
21	chr5:116070800-116073800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:116070800-116073800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:116070800-116074200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:116070800-116074200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:116070800-116074400	Weak transcription	Brain Substantia Nigra	brain
26	chr5:116071000-116073200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:116071000-116073200	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:116071000-116073200	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:116071000-116073200	Weak transcription	Fetal Stomach	stomach
30	chr5:116071000-116073400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:116071000-116074000	Weak transcription	Right Ventricle	heart
32	chr5:116071200-116073800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:116071200-116073800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:116071200-116074000	Weak transcription	Fetal Lung	lung
35	chr5:116071200-116074000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:116071200-116074000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:116071200-116074800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:116071400-116074200	Weak transcription	Fetal Heart	heart
39	chr5:116071400-116075200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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