Variant report

Variant	rs7209889
Chromosome Location	chr17:20217122-20217123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11553604	1.00[ASN][1000 genomes]
rs11868146	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11870578	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs13341877	1.00[ASN][1000 genomes]
rs28831144	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4087266	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58664968	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60496867	0.97[EUR][1000 genomes]
rs7214833	0.84[LWK][hapmap];0.89[MKK][hapmap]
rs7223984	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73981864	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078442	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9892080	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9899251	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913312	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1064854	chr17:20086562-20225751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2761953	chr17:20086562-20225763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv1057389	chr17:20158343-20256498	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv427993	chr17:20171398-20482061	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
13	nsv520772	chr17:20184501-20522444	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
14	nsv521025	chr17:20198024-20514921	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20187800-20223800	Weak transcription	Pancreas	Pancrea
2	chr17:20201000-20220000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:20210800-20223800	Weak transcription	Colonic Mucosa	Colon
4	chr17:20210800-20223800	Weak transcription	Esophagus	oesophagus
5	chr17:20211000-20217200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:20211000-20217200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr17:20211000-20218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:20211000-20218600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:20211000-20219600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr17:20211000-20223000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:20211000-20223800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr17:20211000-20223800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:20211000-20224000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:20211000-20224000	Weak transcription	HMEC	breast
15	chr17:20211200-20217200	Weak transcription	Fetal Brain Female	brain
16	chr17:20211200-20221600	Weak transcription	Small Intestine	intestine
17	chr17:20211200-20223800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr17:20211200-20224000	Weak transcription	Fetal Intestine Large	intestine
19	chr17:20211400-20220800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:20211400-20224000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr17:20211600-20217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:20211600-20218000	Weak transcription	Fetal Intestine Small	intestine
23	chr17:20211600-20221800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:20211600-20224000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:20212200-20222000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:20212400-20219800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr17:20212800-20218400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr17:20213000-20217200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:20213000-20217200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:20213000-20217400	Weak transcription	Brain Germinal Matrix	brain
31	chr17:20213000-20218800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:20213000-20222000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr17:20213000-20223800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:20213000-20223800	Weak transcription	Adipose Nuclei	Adipose
35	chr17:20213000-20226600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr17:20213200-20223800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr17:20214200-20217200	Weak transcription	Lung	lung
38	chr17:20214200-20218200	Weak transcription	A549	lung
39	chr17:20214400-20217200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:20214400-20218800	Weak transcription	Fetal Muscle Leg	muscle
41	chr17:20214400-20223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr17:20214600-20218200	Weak transcription	Spleen	Spleen
43	chr17:20214600-20220200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:20215000-20218000	Weak transcription	HSMMtube	muscle
45	chr17:20215200-20218400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:20215600-20217200	Enhancers	Brain Hippocampus Middle	brain
47	chr17:20215600-20217400	Enhancers	Brain Cingulate Gyrus	brain
48	chr17:20215800-20217200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr17:20215800-20217600	Enhancers	Brain Angular Gyrus	brain
50	chr17:20216000-20217200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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