Variant report

Variant	rs878401
Chromosome Location	chr5:116074260-116074261
allele	C/T
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: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs26670	0.82[EUR][1000 genomes]
rs27544	0.82[EUR][1000 genomes]
rs28035	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2909815	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2909816	0.85[ASN][1000 genomes]
rs2909817	0.83[ASN][1000 genomes]
rs2909818	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2909820	0.86[EUR][1000 genomes]
rs2909821	0.86[EUR][1000 genomes]
rs2909824	0.82[EUR][1000 genomes]
rs2909826	0.86[EUR][1000 genomes]
rs2909827	0.87[EUR][1000 genomes]
rs2933594	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2933595	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2933596	0.85[ASN][1000 genomes]
rs2933597	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2933624	0.80[EUR][1000 genomes]
rs2964685	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2964686	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2964687	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2964688	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2964689	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2964690	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2964691	0.83[ASN][1000 genomes]
rs35210657	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs455408	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs872411	0.83[EUR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116068400-116076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:116070400-116074800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:116070600-116076200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:116070600-116076600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:116070800-116074400	Weak transcription	Brain Substantia Nigra	brain
6	chr5:116071200-116074800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:116071400-116075200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:116073200-116075000	Enhancers	Fetal Muscle Leg	muscle
9	chr5:116073200-116075400	Enhancers	Colon Smooth Muscle	Colon
10	chr5:116073200-116075400	Enhancers	Fetal Brain Female	brain
11	chr5:116073200-116075800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:116073200-116075800	Enhancers	Fetal Brain Male	brain
13	chr5:116073200-116075800	Enhancers	Fetal Stomach	stomach
14	chr5:116073400-116074400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:116073400-116074600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:116073400-116074800	Enhancers	Fetal Muscle Trunk	muscle
17	chr5:116073400-116075200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:116073400-116076200	Enhancers	Lung	lung
19	chr5:116073600-116074400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:116073800-116074600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:116073800-116074600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:116073800-116074600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:116073800-116074600	Enhancers	Brain Hippocampus Middle	brain
24	chr5:116073800-116074800	Enhancers	Adipose Nuclei	Adipose
25	chr5:116073800-116074800	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:116073800-116074800	Enhancers	Brain Germinal Matrix	brain
27	chr5:116073800-116075200	Enhancers	HSMM	muscle
28	chr5:116073800-116075600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:116073800-116076400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:116074000-116074400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:116074000-116074400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:116074000-116074400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:116074000-116074400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:116074000-116074600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:116074000-116074600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:116074000-116074600	Enhancers	Fetal Lung	lung
37	chr5:116074000-116074800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:116074000-116074800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:116074000-116074800	Enhancers	Right Ventricle	heart
40	chr5:116074000-116074800	Enhancers	Stomach Smooth Muscle	stomach
41	chr5:116074000-116075000	Enhancers	Fetal Thymus	thymus
42	chr5:116074000-116075200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr5:116074000-116075400	Enhancers	Rectal Smooth Muscle	rectum
44	chr5:116074000-116075600	Enhancers	Left Ventricle	heart
45	chr5:116074000-116075600	Enhancers	Right Atrium	heart
46	chr5:116074000-116076400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr5:116074200-116074600	Enhancers	Esophagus	oesophagus
48	chr5:116074200-116074600	Enhancers	Placenta	Placenta
49	chr5:116074200-116074800	Enhancers	Ovary	ovary
50	chr5:116074200-116075000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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