Variant report

Variant	rs221605
Chromosome Location	chr17:45246717-45246718
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45244585..45246962-chr17:45247878..45249835,2	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1102461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079756	0.92[ASN][1000 genomes]
rs11079762	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11079763	0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1634269	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1713493	0.86[YRI][hapmap]
rs221596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs221603	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs221604	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221607	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2678693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs4968308	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6504743	0.94[ASN][1000 genomes]
rs6504744	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7208288	0.89[ASN][1000 genomes]
rs8073936	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858671	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs858675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858680	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9747171	0.97[ASN][1000 genomes]
rs9894365	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3325368	chr17:45235562-45247410	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3393378	chr17:45235569-45249387	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS 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
5	esv5729	chr17:45235587-45249403	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3431533	chr17:45235611-45247332	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3364168	chr17:45235631-45247302	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3422702	chr17:45235632-45247304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3447780	chr17:45244823-45247336	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3445733	chr17:45244896-45247336	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv2990	chr17:45245033-45248949	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	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
13	nsv962333	chr17:45246234-45248054	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 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	chr17:45234600-45249200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:45234600-45249400	Strong transcription	A549	lung
3	chr17:45235200-45247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45235800-45247200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:45235800-45247200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:45235800-45247200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr17:45235800-45247200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:45235800-45247200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr17:45235800-45247200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:45235800-45247200	Weak transcription	Brain Substantia Nigra	brain
11	chr17:45235800-45247200	Weak transcription	Fetal Brain Male	brain
12	chr17:45235800-45247200	Strong transcription	Fetal Thymus	thymus
13	chr17:45235800-45247200	Strong transcription	Dnd41	blood
14	chr17:45235800-45247200	Strong transcription	HepG2	liver
15	chr17:45235800-45247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:45235800-45247400	Weak transcription	Psoas Muscle	Psoas
17	chr17:45235800-45247800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:45235800-45249200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:45235800-45249200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:45235800-45249200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:45235800-45249200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:45235800-45249200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:45235800-45249200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr17:45235800-45249200	Weak transcription	Stomach Mucosa	stomach
25	chr17:45235800-45249200	Weak transcription	HSMMtube	muscle
26	chr17:45237200-45247200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr17:45237400-45247200	Weak transcription	Colonic Mucosa	Colon
28	chr17:45237400-45249200	Weak transcription	Aorta	Aorta
29	chr17:45237400-45249200	Weak transcription	Small Intestine	intestine
30	chr17:45237800-45247600	Strong transcription	K562	blood
31	chr17:45238000-45247200	Strong transcription	HSMM	muscle
32	chr17:45239000-45249200	Weak transcription	Right Ventricle	heart
33	chr17:45239200-45249200	Weak transcription	Brain Angular Gyrus	brain
34	chr17:45240200-45247200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:45240800-45247000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:45240800-45248400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:45241000-45247200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr17:45241000-45248400	Strong transcription	Osteobl	bone
39	chr17:45241000-45249200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr17:45241200-45247600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:45241400-45246800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr17:45241400-45246800	Strong transcription	HUVEC	blood vessel
43	chr17:45241400-45247200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:45241400-45247200	Strong transcription	Adipose Nuclei	Adipose
45	chr17:45241400-45248400	Strong transcription	Fetal Intestine Large	intestine
46	chr17:45241400-45248800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:45241600-45246800	Strong transcription	Primary B cells from cord blood	blood
48	chr17:45241600-45247200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr17:45241600-45247400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr17:45241600-45247600	Strong transcription	Primary T cells fromperipheralblood	blood

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