Variant report

Variant	rs72830139
Chromosome Location	chr17:20007247-20007248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20006703..20009085-chr17:20010910..20012831,2	K562	blood:
2	chr17:19806568..19809445-chr17:20006913..20008589,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16960662	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16960672	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55814709	0.94[EUR][1000 genomes]
rs55832890	0.94[EUR][1000 genomes]
rs55853482	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55854412	0.88[EUR][1000 genomes]
rs55891925	0.84[EUR][1000 genomes]
rs55939726	0.94[EUR][1000 genomes]
rs56002404	0.84[EUR][1000 genomes]
rs56009494	0.88[EUR][1000 genomes]
rs56009515	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56034568	0.90[EUR][1000 genomes]
rs56074205	0.84[EUR][1000 genomes]
rs56186136	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56194672	0.88[EUR][1000 genomes]
rs56208903	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56267204	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56281769	0.88[EUR][1000 genomes]
rs56301435	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56344048	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7207672	0.92[EUR][1000 genomes]
rs72830109	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72830114	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72830123	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72830128	0.94[EUR][1000 genomes]
rs72830141	0.96[EUR][1000 genomes]
rs72830145	0.88[EUR][1000 genomes]
rs72830150	0.82[EUR][1000 genomes]
rs72830153	0.88[EUR][1000 genomes]
rs72830165	0.88[EUR][1000 genomes]
rs72830176	0.88[EUR][1000 genomes]
rs72830177	0.86[EUR][1000 genomes]
rs72830178	0.88[EUR][1000 genomes]
rs72830179	0.84[EUR][1000 genomes]
rs72830188	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19993800-20008800	Weak transcription	GM12878-XiMat	blood
2	chr17:19999000-20032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr17:19999200-20008800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:19999400-20011800	Weak transcription	A549	lung
5	chr17:20002200-20018800	Weak transcription	Spleen	Spleen
6	chr17:20002200-20033400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr17:20002400-20013600	Weak transcription	Aorta	Aorta
8	chr17:20004000-20013600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:20004600-20008400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr17:20004800-20007600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:20005000-20007600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr17:20005000-20007800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:20006000-20007600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr17:20006000-20008800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:20006400-20007400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:20006400-20007400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:20006400-20007400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr17:20006400-20007600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:20006400-20007600	Enhancers	Brain Angular Gyrus	brain
20	chr17:20006400-20008800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr17:20006600-20007400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:20006600-20007400	Enhancers	Ovary	ovary
23	chr17:20006600-20007800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:20006600-20007800	Enhancers	Brain Anterior Caudate	brain
25	chr17:20006600-20007800	Enhancers	HSMMtube	muscle
26	chr17:20006800-20007400	Enhancers	Adipose Nuclei	Adipose
27	chr17:20006800-20007400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr17:20006800-20007400	Enhancers	Fetal Muscle Leg	muscle
29	chr17:20006800-20007400	Enhancers	Placenta	Placenta
30	chr17:20006800-20008400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:20007000-20007400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:20007000-20007400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:20007000-20007400	Bivalent Enhancer	Left Ventricle	heart
34	chr17:20007000-20007400	Bivalent Enhancer	HMEC	breast
35	chr17:20007000-20007600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr17:20007000-20007600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:20007000-20007600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:20007000-20007600	Enhancers	Brain Cingulate Gyrus	brain
39	chr17:20007000-20007800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:20007000-20013400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:20007000-20013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:20007200-20007400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:20007200-20007400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr17:20007200-20007600	Enhancers	Brain Substantia Nigra	brain
45	chr17:20007200-20013600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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