Variant report

Variant	rs17052322
Chromosome Location	chr3:52637439-52637440
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	chr3:52635882..52639721-chr3:52640182..52642371,3	K562	blood:
2	chr3:52635643..52638367-chr3:52718395..52720556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163938	Chromatin interaction
ENSG00000163939	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1344932	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs17052269	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17052355	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052424	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs17052427	1.00[MEX][hapmap]
rs1971811	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41415947	0.80[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56815357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57401769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57440640	1.00[AMR][1000 genomes]
rs57607481	0.85[AFR][1000 genomes]
rs57931767	0.85[AFR][1000 genomes]
rs58242587	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59078569	0.84[AFR][1000 genomes]
rs59410274	0.84[AFR][1000 genomes]
rs59789322	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60351358	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60404983	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60832323	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61418167	0.84[AFR][1000 genomes]
rs61484330	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767229	0.88[AFR][1000 genomes]
rs6778100	1.00[MEX][hapmap]
rs6779626	0.91[AFR][1000 genomes]
rs6796577	0.88[AFR][1000 genomes]
rs6803865	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6809065	0.88[AFR][1000 genomes]
rs7615320	0.80[AFR][1000 genomes]
rs7616059	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7630920	1.00[MEX][hapmap]
rs7644379	1.00[MEX][hapmap]
rs7649820	0.91[AFR][1000 genomes]

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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52591000-52688000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:52627800-52640600	Weak transcription	Fetal Heart	heart
5	chr3:52628600-52640200	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr3:52630800-52638600	Strong transcription	Osteobl	bone
7	chr3:52631600-52640600	Weak transcription	Stomach Mucosa	stomach
8	chr3:52632000-52638600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:52632200-52640400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:52633800-52640400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:52634200-52637600	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:52634200-52638000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:52634200-52640800	Strong transcription	HUVEC	blood vessel
14	chr3:52634200-52647800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr3:52634400-52638200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:52634600-52638200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:52634600-52638400	Strong transcription	Liver	Liver
18	chr3:52634600-52640600	Strong transcription	Left Ventricle	heart
19	chr3:52634800-52637600	Strong transcription	Rectal Smooth Muscle	rectum
20	chr3:52634800-52637600	Strong transcription	HepG2	liver
21	chr3:52634800-52638200	Strong transcription	NHDF-Ad	bronchial
22	chr3:52634800-52640800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:52634800-52654400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:52634800-52654400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:52634800-52686000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr3:52635000-52637600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:52635000-52638400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:52635000-52638400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:52635000-52638800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:52635000-52638800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr3:52635000-52639400	Strong transcription	Brain Anterior Caudate	brain
32	chr3:52635000-52639600	ZNF genes & repeats	Dnd41	blood
33	chr3:52635200-52637600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr3:52635200-52638400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:52635200-52638600	Strong transcription	Colonic Mucosa	Colon
36	chr3:52635200-52638800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:52635200-52641800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:52635200-52641800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:52635400-52638000	Strong transcription	HMEC	breast
40	chr3:52635400-52638600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:52635400-52640400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr3:52635400-52649000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:52635600-52638200	Strong transcription	NH-A	brain
44	chr3:52635600-52654200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:52635600-52655200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:52635800-52638800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:52635800-52638800	Strong transcription	Hela-S3	cervix
48	chr3:52635800-52654400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:52635800-52654600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr3:52635800-52654600	Strong transcription	Adipose Nuclei	Adipose

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