Variant report

Variant	rs17022927
Chromosome Location	chr4:95966101-95966102
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10009874	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10011534	1.00[EUR][1000 genomes]
rs1470408	1.00[EUR][1000 genomes]
rs16996451	0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17022601	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17022763	1.00[EUR][1000 genomes]
rs17022921	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17022948	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17022969	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55770035	1.00[EUR][1000 genomes]
rs60228393	1.00[EUR][1000 genomes]
rs72878195	1.00[EUR][1000 genomes]
rs72889518	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv879622	chr4:95917980-95984379	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95948200-95966600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:95957000-95972400	Weak transcription	Psoas Muscle	Psoas
3	chr4:95963800-95968200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:95964400-95966200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:95964600-95967000	Enhancers	Brain Angular Gyrus	brain
6	chr4:95964800-95967200	Enhancers	Fetal Kidney	kidney
7	chr4:95965200-95966600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:95965200-95967200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:95965400-95966400	Weak transcription	Fetal Brain Female	brain
10	chr4:95965400-95966600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:95965400-95966800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:95965400-95966800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:95965400-95966800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:95965400-95967000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:95965400-95967000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:95965400-95967000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:95965400-95967000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:95965400-95967000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:95965400-95967000	Enhancers	Brain Germinal Matrix	brain
20	chr4:95965400-95967000	Enhancers	Brain Substantia Nigra	brain
21	chr4:95965400-95967000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:95965400-95967800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:95965600-95966200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:95965600-95966800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:95965600-95967000	Enhancers	Aorta	Aorta
26	chr4:95965600-95967000	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:95965600-95967000	Enhancers	NH-A	brain
28	chr4:95965600-95967400	Enhancers	Ovary	ovary
29	chr4:95965600-95967800	Enhancers	Brain Hippocampus Middle	brain
30	chr4:95965800-95966200	Weak transcription	Brain Anterior Caudate	brain
31	chr4:95965800-95966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:95965800-95966600	Active TSS	A549	lung
33	chr4:95965800-95966800	Weak transcription	Fetal Stomach	stomach
34	chr4:95965800-95966800	Enhancers	Stomach Smooth Muscle	stomach
35	chr4:95965800-95967600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:95966000-95966200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:95966000-95966200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr4:95966000-95966400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:95966000-95966400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:95966000-95968600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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