Variant report

Variant	rs221599
Chromosome Location	chr17:45264380-45264381
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45262874..45265503-chr17:45367086..45368739,2	K562	blood:
2	chr17:45249552..45252803-chr17:45263494..45265675,3	MCF-7	breast:
3	chr17:45264174..45269379-chr17:45283146..45288200,6	K562	blood:
4	chr17:45260373..45262889-chr17:45263866..45266203,2	MCF-7	breast:
5	chr17:45253169..45255870-chr17:45262068..45264746,2	MCF-7	breast:
6	chr17:45264009..45265710-chr17:45352857..45355559,2	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction
ENSG00000198336	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12946597	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1515751	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1515752	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1713494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1713495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs188799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2071438	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs221598	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3785875	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4968309	0.92[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs6504745	0.83[ASN][1000 genomes]
rs701982	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs764792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8076808	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs858673	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs858679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs938904	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs9905948	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	esv3584	chr17:45246216-45265642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3438623	chr17:45249255-45266618	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv8330	chr17:45249307-45266621	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3374428	chr17:45249343-45266580	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3373405	chr17:45258905-45266622	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3414401	chr17:45258915-45266609	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3522393	chr17:45258921-45266590	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3522394	chr17:45258921-45266590	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3392762	chr17:45258946-45266562	Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3314731	chr17:45258949-45266545	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3314732	chr17:45258949-45266545	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3397910	chr17:45258965-45266531	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv4785	chr17:45258973-45266557	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv4323	chr17:45258973-45266558	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3416394	chr17:45259161-45266566	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45253200-45265200	Weak transcription	Brain Germinal Matrix	brain
2	chr17:45257000-45265600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:45259000-45265600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:45259200-45264400	Weak transcription	Fetal Intestine Small	intestine
5	chr17:45259200-45264600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr17:45259200-45264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:45259200-45264600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr17:45259200-45264600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr17:45259200-45264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:45259200-45264800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:45259200-45264800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:45259200-45264800	Weak transcription	NHEK	skin
13	chr17:45259200-45265200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:45259200-45265200	Weak transcription	Fetal Kidney	kidney
15	chr17:45259200-45265200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr17:45259200-45265200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr17:45259200-45265200	Weak transcription	HMEC	breast
18	chr17:45259200-45265400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr17:45259200-45265400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:45259200-45265400	Weak transcription	Brain Anterior Caudate	brain
21	chr17:45259200-45265400	Weak transcription	Brain Substantia Nigra	brain
22	chr17:45259200-45265400	Weak transcription	Fetal Intestine Large	intestine
23	chr17:45259200-45265400	Weak transcription	Thymus	Thymus
24	chr17:45259200-45265400	Weak transcription	HSMMtube	muscle
25	chr17:45259200-45265400	Weak transcription	NH-A	brain
26	chr17:45259200-45265600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:45259200-45265600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:45259200-45265600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr17:45259200-45265600	Weak transcription	Aorta	Aorta
30	chr17:45259200-45265600	Weak transcription	Colonic Mucosa	Colon
31	chr17:45259200-45265600	Weak transcription	Esophagus	oesophagus
32	chr17:45259200-45265600	Weak transcription	Placenta	Placenta
33	chr17:45259200-45265600	Weak transcription	Gastric	stomach
34	chr17:45259200-45265600	Weak transcription	Lung	lung
35	chr17:45259200-45265600	Weak transcription	Stomach Mucosa	stomach
36	chr17:45259200-45265800	Weak transcription	Spleen	Spleen
37	chr17:45259400-45264400	Weak transcription	Fetal Brain Female	brain
38	chr17:45259400-45264800	Weak transcription	Fetal Thymus	thymus
39	chr17:45259400-45265200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:45259400-45265200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:45259400-45265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:45259600-45265600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr17:45260600-45264400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr17:45260800-45265400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr17:45261000-45265600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr17:45261200-45265200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr17:45261200-45265400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr17:45261400-45265400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:45262200-45264800	Weak transcription	HSMM	muscle
50	chr17:45262400-45264400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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