Variant report

Variant	rs921394
Chromosome Location	chr17:38656219-38656220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38597908..38601053-chr17:38654458..38659532,5	MCF-7	breast:
2	chr17:38654631..38657600-chr17:38717597..38719399,2	MCF-7	breast:
3	chr17:38653701..38656623-chr17:38703547..38705327,2	MCF-7	breast:
4	chr17:38650172..38654327-chr17:38654681..38657235,5	K562	blood:
5	chr17:38652390..38654327-chr17:38654701..38657049,2	K562	blood:

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1018953	1.00[JPT][hapmap]
rs11574663	1.00[JPT][hapmap]
rs2229095	1.00[JPT][hapmap]
rs28485796	0.88[ASN][1000 genomes]
rs3136687	1.00[JPT][hapmap]
rs3136689	1.00[JPT][hapmap]
rs3136694	1.00[JPT][hapmap]
rs3136695	1.00[JPT][hapmap]
rs4092050	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs475298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4890087	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs499490	1.00[CHB][hapmap]
rs594783	1.00[CHB][hapmap]
rs596960	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs634299	1.00[ASN][1000 genomes]
rs6503543	0.82[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7217539	0.82[CEU][hapmap]
rs7221799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs896135	0.82[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs896136	0.82[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9675320	1.00[JPT][hapmap]
rs9901908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9912358	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38649600-38657600	Transcr. at gene 5' and 3'	NHEK	skin
2	chr17:38653600-38656600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:38653800-38656400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr17:38653800-38656800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:38653800-38657000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:38653800-38657200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:38654200-38656600	Enhancers	NHDF-Ad	bronchial
8	chr17:38654200-38656800	Enhancers	Left Ventricle	heart
9	chr17:38654200-38657000	Enhancers	Right Ventricle	heart
10	chr17:38654800-38658000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:38655000-38656400	Enhancers	Primary hematopoietic stem cells	blood
12	chr17:38655400-38656400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr17:38655400-38656600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:38655400-38656800	Enhancers	Fetal Heart	heart
15	chr17:38655400-38656800	Flanking Active TSS	Placenta	Placenta
16	chr17:38655600-38656400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr17:38655600-38656400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr17:38655600-38656400	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr17:38655600-38656400	Enhancers	Fetal Stomach	stomach
20	chr17:38655600-38656400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr17:38655600-38656400	Enhancers	NH-A	brain
22	chr17:38655600-38656600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:38655600-38656600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:38655600-38656600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr17:38655600-38656600	Enhancers	Liver	Liver
26	chr17:38655600-38656600	Bivalent Enhancer	Fetal Thymus	thymus
27	chr17:38655600-38656600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr17:38655600-38656800	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr17:38655600-38657600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr17:38655800-38656400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:38655800-38656400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:38655800-38656400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:38655800-38656400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:38655800-38656400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr17:38655800-38656400	Enhancers	Brain Cingulate Gyrus	brain
36	chr17:38655800-38656400	Bivalent Enhancer	Brain Germinal Matrix	brain
37	chr17:38655800-38656400	Enhancers	Brain Hippocampus Middle	brain
38	chr17:38655800-38656400	Enhancers	Brain Substantia Nigra	brain
39	chr17:38655800-38656600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:38655800-38656600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr17:38655800-38656600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:38655800-38656600	Enhancers	Fetal Lung	lung
43	chr17:38655800-38656600	Enhancers	Ovary	ovary
44	chr17:38655800-38656600	Enhancers	HSMM	muscle
45	chr17:38655800-38656800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr17:38655800-38656800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:38655800-38656800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr17:38655800-38657400	Active TSS	Thymus	Thymus
49	chr17:38655800-38657600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:38656000-38656400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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