Variant report

Variant	rs73143127
Chromosome Location	chr5:96435472-96435473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17087310	0.83[AFR][1000 genomes]
rs58686671	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143113	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143114	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143118	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143120	1.00[AMR][1000 genomes]
rs73143143	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96425200-96437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:96426400-96437200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr5:96428400-96440000	Weak transcription	K562	blood
4	chr5:96430600-96438000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:96430800-96438200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:96432400-96435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:96432400-96437000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:96432400-96437000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:96432400-96437000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:96432600-96439200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:96432800-96436200	Weak transcription	Brain Substantia Nigra	brain
12	chr5:96432800-96436400	Weak transcription	Fetal Stomach	stomach
13	chr5:96432800-96437000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:96432800-96437600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:96432800-96439000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:96432800-96445600	Weak transcription	Primary B cells from cord blood	blood
17	chr5:96433000-96437200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:96433600-96437000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:96433600-96437400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:96433800-96435800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:96433800-96437000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:96433800-96437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:96434000-96437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:96434000-96437000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:96434200-96438600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:96434400-96437000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:96434600-96439200	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:96435000-96436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:96435000-96436200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:96435000-96436200	Weak transcription	Brain Germinal Matrix	brain
31	chr5:96435000-96436400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:96435000-96436400	Weak transcription	Fetal Lung	lung
33	chr5:96435000-96436800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:96435000-96437000	Enhancers	Brain Hippocampus Middle	brain
35	chr5:96435000-96437600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:96435000-96447400	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:96435200-96436400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:96435400-96435800	Weak transcription	Brain Anterior Caudate	brain

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