Variant report

Variant	rs73981866
Chromosome Location	chr17:20138138-20138139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28563081	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7212886	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7214833	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7223481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981871	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9325893	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9890419	1.00[AMR][1000 genomes]
rs9894809	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9910699	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9911147	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9913192	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	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
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv833396	chr17:20029183-20150808	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	nsv1063833	chr17:20088333-20206601	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	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
14	nsv1065363	chr17:20118499-20162888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1059774	chr17:20118499-20163560	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20111600-20166000	Weak transcription	Right Ventricle	heart
2	chr17:20125200-20144000	Weak transcription	Small Intestine	intestine
3	chr17:20128800-20157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:20129000-20138600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:20129200-20161600	Weak transcription	Fetal Brain Female	brain
6	chr17:20129600-20161600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:20130600-20139000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:20130600-20139000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:20130600-20139200	Weak transcription	Fetal Muscle Leg	muscle
10	chr17:20130600-20139800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:20130600-20141600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:20130600-20161200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr17:20130600-20170000	Weak transcription	K562	blood
14	chr17:20130600-20170200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr17:20130800-20139800	Weak transcription	Colon Smooth Muscle	Colon
16	chr17:20130800-20140400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr17:20130800-20141800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:20130800-20142200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:20130800-20142200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr17:20131000-20142000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:20131200-20142000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:20131400-20139000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:20131400-20142000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr17:20131600-20139600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr17:20131600-20140400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:20131600-20140400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr17:20131800-20140200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:20131800-20141400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr17:20131800-20147800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr17:20131800-20164400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr17:20132000-20138600	Strong transcription	A549	lung
32	chr17:20132000-20140600	Strong transcription	Hela-S3	cervix
33	chr17:20132600-20151200	Weak transcription	NH-A	brain
34	chr17:20132800-20139600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr17:20134200-20138200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:20134200-20139000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:20134200-20147800	Weak transcription	HSMM	muscle
38	chr17:20134400-20138200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:20134400-20139400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr17:20134400-20139400	Strong transcription	HMEC	breast
41	chr17:20134400-20141200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:20134400-20142200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:20134400-20142200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr17:20134400-20150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr17:20134600-20138800	Strong transcription	Fetal Intestine Large	intestine
46	chr17:20134800-20139200	Strong transcription	Adipose Nuclei	Adipose
47	chr17:20134800-20139800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr17:20134800-20140600	Strong transcription	Osteobl	bone
49	chr17:20134800-20150000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr17:20135000-20138200	Genic enhancers	Brain Cingulate Gyrus	brain

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