Variant report

Variant	rs2015049
Chromosome Location	chr17:45332231-45332232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45331567..45334832-chr17:45348369..45350446,3	K562	blood:
2	chr17:45332159..45334737-chr17:45364459..45366214,2	K562	blood:
3	chr17:45297983..45300898-chr17:45329772..45332242,2	K562	blood:

Variant related genes	Relation type
ENSG00000252088	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1009312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438781	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10438782	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11871251	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12937929	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34182248	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34492688	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35069360	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35125273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35439279	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35704663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144744	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144745	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4144746	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4541130	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55677902	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55827077	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504788	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504789	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504790	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66738981	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67080286	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67544603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67615769	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67923812	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208055	0.80[EUR][1000 genomes]
rs7208170	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210182	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7211563	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7218524	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218773	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7222617	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7223003	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7223766	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225134	1.00[CEU][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823474	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8071784	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3370617	chr17:45329978-45332826	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45330600-45332400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr17:45330600-45332800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:45330600-45333000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:45330600-45333000	Active TSS	Rectal Smooth Muscle	rectum
5	chr17:45330800-45332400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr17:45330800-45332400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr17:45330800-45332400	Active TSS	Aorta	Aorta
8	chr17:45330800-45332400	Active TSS	NHDF-Ad	bronchial
9	chr17:45330800-45332400	Active TSS	NHLF	lung
10	chr17:45330800-45333400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:45331000-45332400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr17:45331000-45333000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:45331000-45333000	Active TSS	Colon Smooth Muscle	Colon
14	chr17:45331800-45332400	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr17:45331800-45334800	Weak transcription	Hela-S3	cervix
16	chr17:45332000-45332400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr17:45332000-45332400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:45332000-45334000	Weak transcription	HSMMtube	muscle
19	chr17:45332200-45332400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr17:45332200-45332400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:45332200-45332400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr17:45332200-45332400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:45332200-45332400	Active TSS	Adipose Nuclei	Adipose
24	chr17:45332200-45332400	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr17:45332200-45332400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
26	chr17:45332200-45332400	Flanking Active TSS	Placenta	Placenta
27	chr17:45332200-45332400	Active TSS	Psoas Muscle	Psoas
28	chr17:45332200-45332400	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr17:45332200-45332400	Active TSS	Right Ventricle	heart
30	chr17:45332200-45332400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
31	chr17:45332200-45332400	Bivalent Enhancer	Dnd41	blood
32	chr17:45332200-45332400	Active TSS	HSMM	muscle
33	chr17:45332200-45332400	Enhancers	K562	blood
34	chr17:45332200-45332400	Flanking Active TSS	NH-A	brain
35	chr17:45332200-45332400	Active TSS	Osteobl	bone
36	chr17:45332200-45332600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr17:45332200-45332600	Active TSS	HUVEC	blood vessel
38	chr17:45332200-45332800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:45332200-45332800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr17:45332200-45333000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:45332200-45333000	Weak transcription	Left Ventricle	heart
42	chr17:45332200-45333000	Weak transcription	Small Intestine	intestine
43	chr17:45332200-45333200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:45332200-45333800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:45332200-45334000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr17:45332200-45335000	Weak transcription	Right Atrium	heart
47	chr17:45332200-45335000	Weak transcription	GM12878-XiMat	blood
48	chr17:45332200-45335200	Weak transcription	Ovary	ovary
49	chr17:45332200-45335400	Weak transcription	Fetal Heart	heart
50	chr17:45332200-45336000	Weak transcription	Spleen	Spleen

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