Variant report

Variant	rs73300558
Chromosome Location	chr17:17478935-17478936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17478519..17480283-chr17:17495399..17496929,2	K562	blood:
2	chr17:17478310..17481534-chr17:17481749..17484707,3	K562	blood:
3	chr17:17478222..17479818-chr17:17481542..17483220,2	MCF-7	breast:
4	chr17:17477958..17480343-chr17:17481863..17484707,3	K562	blood:

Variant related genes	Relation type
ENSG00000206730	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4646360	0.86[EUR][1000 genomes]
rs4646361	0.86[EUR][1000 genomes]
rs4646362	0.86[EUR][1000 genomes]
rs4646363	0.86[EUR][1000 genomes]
rs4646364	0.86[EUR][1000 genomes]
rs4646366	0.86[EUR][1000 genomes]
rs7210045	0.86[EUR][1000 genomes]
rs73298562	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73298588	0.86[EUR][1000 genomes]
rs73298590	0.86[EUR][1000 genomes]
rs8065788	0.86[EUR][1000 genomes]
rs8066187	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers 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 miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
8	nsv1062052	chr17:17461050-17507199	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv543237	chr17:17461050-17507199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17436800-17479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:17465600-17484000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr17:17466000-17484000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr17:17466400-17480000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:17468800-17482800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr17:17468800-17484000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:17468800-17484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr17:17469000-17482000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr17:17469000-17494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:17469200-17493600	Weak transcription	Thymus	Thymus
11	chr17:17469600-17483800	Weak transcription	Osteobl	bone
12	chr17:17470200-17483800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:17470800-17483600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:17471400-17479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:17471600-17482800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr17:17471600-17493600	Weak transcription	Brain Angular Gyrus	brain
17	chr17:17471800-17479000	Weak transcription	Brain Hippocampus Middle	brain
18	chr17:17471800-17479600	Weak transcription	Brain Anterior Caudate	brain
19	chr17:17471800-17493600	Weak transcription	Colon Smooth Muscle	Colon
20	chr17:17472400-17493600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr17:17473000-17479600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr17:17473600-17484000	Weak transcription	HSMMtube	muscle
23	chr17:17474200-17493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:17474400-17479000	Weak transcription	Brain Germinal Matrix	brain
25	chr17:17474400-17481200	Strong transcription	Fetal Stomach	stomach
26	chr17:17474600-17493800	Weak transcription	Primary B cells from cord blood	blood
27	chr17:17474800-17493200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:17475000-17483200	Weak transcription	Stomach Mucosa	stomach
29	chr17:17475600-17484400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:17475800-17484000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr17:17476800-17480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:17477000-17480600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr17:17477200-17480400	Enhancers	NHDF-Ad	bronchial
34	chr17:17477200-17480600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:17477600-17479800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr17:17477800-17480200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr17:17477800-17480200	Genic enhancers	Fetal Intestine Large	intestine
38	chr17:17477800-17480400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:17477800-17480400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:17477800-17480600	Strong transcription	Dnd41	blood
41	chr17:17477800-17481000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:17478000-17479000	Enhancers	Left Ventricle	heart
43	chr17:17478000-17479000	ZNF genes & repeats	Lung	lung
44	chr17:17478000-17479000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr17:17478000-17479200	Enhancers	Fetal Thymus	thymus
46	chr17:17478000-17479400	Strong transcription	Right Ventricle	heart
47	chr17:17478000-17479600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr17:17478000-17479800	Genic enhancers	Fetal Muscle Leg	muscle
49	chr17:17478000-17480000	Genic enhancers	Fetal Intestine Small	intestine
50	chr17:17478000-17480400	Strong transcription	Primary T cells from cord blood	blood

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