Variant report

Variant	rs1822494
Chromosome Location	chr5:112586632-112586633
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	chr5:112579792..112582768-chr5:112586295..112589549,3	K562	blood:
2	chr5:112585167..112587277-chr5:112587981..112591044,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10519341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135465	0.85[JPT][hapmap]
rs17135473	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17135525	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17135541	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17135586	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[EUR][1000 genomes]
rs17135601	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[EUR][1000 genomes]
rs17135607	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[EUR][1000 genomes]
rs17135615	1.00[EUR][1000 genomes]
rs17376277	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1822487	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2222145	1.00[EUR][1000 genomes]
rs2900070	1.00[EUR][1000 genomes]
rs41420244	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs41459745	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs589147	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59073951	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6871668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs882755	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112572400-112590400	Weak transcription	Liver	Liver
2	chr5:112579600-112587000	Weak transcription	Aorta	Aorta
3	chr5:112580600-112597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:112581400-112590800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112582800-112601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:112583000-112604600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:112583200-112587000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:112583600-112599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:112583800-112587000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:112583800-112588000	Enhancers	Fetal Heart	heart
11	chr5:112584400-112587400	Enhancers	NH-A	brain
12	chr5:112584400-112587400	Enhancers	Osteobl	bone
13	chr5:112584800-112586800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:112585000-112587000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:112585000-112589000	Enhancers	Right Ventricle	heart
16	chr5:112585000-112589400	Enhancers	Ovary	ovary
17	chr5:112585200-112587600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:112585200-112588000	Enhancers	HUVEC	blood vessel
19	chr5:112585200-112588200	Enhancers	Fetal Muscle Leg	muscle
20	chr5:112585200-112588400	Enhancers	Right Atrium	heart
21	chr5:112585200-112589400	Enhancers	Left Ventricle	heart
22	chr5:112585400-112586800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:112585400-112586800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:112585400-112586800	Enhancers	Fetal Kidney	kidney
25	chr5:112585400-112587200	Enhancers	NHDF-Ad	bronchial
26	chr5:112585400-112588000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:112585600-112588200	Enhancers	Adipose Nuclei	Adipose
28	chr5:112585800-112587000	Enhancers	NHLF	lung
29	chr5:112585800-112587400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:112585800-112588000	Enhancers	Fetal Lung	lung
31	chr5:112585800-112588200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:112586000-112586800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr5:112586000-112587000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:112586000-112587000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:112586000-112587400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:112586000-112587600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:112586000-112587800	Weak transcription	Lung	lung
38	chr5:112586000-112589000	Weak transcription	Esophagus	oesophagus
39	chr5:112586000-112590800	Weak transcription	Small Intestine	intestine
40	chr5:112586000-112593000	Weak transcription	Brain Angular Gyrus	brain
41	chr5:112586200-112586800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:112586200-112586800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:112586200-112587000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:112586200-112587000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:112586200-112587200	Weak transcription	Psoas Muscle	Psoas
46	chr5:112586200-112587200	Weak transcription	Stomach Mucosa	stomach
47	chr5:112586400-112586800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr5:112586400-112586800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr5:112586400-112587200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:112586400-112587600	Enhancers	Duodenum Smooth Muscle	Duodenum

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