Variant report

Variant	rs316188
Chromosome Location	chr5:96433663-96433664
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96431878..96433663-chr5:96441346..96442854,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10043135	0.85[CEU][hapmap]
rs11739416	0.85[ASN][1000 genomes]
rs11739448	0.85[ASN][1000 genomes]
rs11749186	0.85[ASN][1000 genomes]
rs11958159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13154242	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13167931	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13173677	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs172723	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs172725	0.82[ASN][1000 genomes]
rs186414	0.84[ASN][1000 genomes]
rs221970	0.88[ASN][1000 genomes]
rs2544775	0.80[ASN][1000 genomes]
rs316179	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316181	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs316182	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316187	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316202	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs316208	0.82[JPT][hapmap]
rs316211	0.82[JPT][hapmap]
rs316216	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs316220	0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs316221	0.95[ASN][1000 genomes]
rs316222	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316225	0.84[ASN][1000 genomes]
rs316226	0.87[ASN][1000 genomes]
rs316227	0.87[ASN][1000 genomes]
rs316228	0.87[ASN][1000 genomes]
rs316233	0.80[CEU][hapmap]
rs316234	0.85[CEU][hapmap]
rs7704410	0.90[EUR][1000 genomes];0.89[ASN][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:39 , 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	chr5:96430000-96434600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:96430600-96438000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:96430800-96434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:96430800-96438200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:96431600-96433800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:96431800-96433800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:96432000-96435000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:96432200-96434200	Weak transcription	Fetal Lung	lung
12	chr5:96432200-96434400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:96432400-96433800	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:96432400-96434400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:96432400-96435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:96432400-96437000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:96432400-96437000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:96432400-96437000	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:96432600-96433800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:96432600-96434200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:96432600-96434400	Weak transcription	Brain Germinal Matrix	brain
22	chr5:96432600-96439200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:96432800-96433800	Weak transcription	GM12878-XiMat	blood
24	chr5:96432800-96434200	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:96432800-96434200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr5:96432800-96436200	Weak transcription	Brain Substantia Nigra	brain
27	chr5:96432800-96436400	Weak transcription	Fetal Stomach	stomach
28	chr5:96432800-96437000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:96432800-96437600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:96432800-96439000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:96432800-96445600	Weak transcription	Primary B cells from cord blood	blood
32	chr5:96433000-96437200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:96433400-96434000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:96433600-96433800	Enhancers	Fetal Kidney	kidney
35	chr5:96433600-96434000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:96433600-96434000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr5:96433600-96434600	Enhancers	Stomach Smooth Muscle	stomach
38	chr5:96433600-96437000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:96433600-96437400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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