Variant report

Variant	rs60831194
Chromosome Location	chr17:17466052-17466053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17464980..17466543-chr17:17467867..17469531,2	MCF-7	breast:
2	chr17:17397512..17403253-chr17:17463031..17468284,9	MCF-7	breast:
3	chr17:17441533..17443885-chr17:17465004..17467167,2	K562	blood:
4	chr17:17409503..17411497-chr17:17465266..17466928,2	MCF-7	breast:
5	chr17:17463387..17466224-chr17:17469302..17472629,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction
ENSG00000133027	Chromatin interaction
ENSG00000265511	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10401038	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11651280	0.90[EUR][1000 genomes]
rs11654553	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11654777	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11658311	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13342397	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16961845	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28583584	0.89[EUR][1000 genomes]
rs28636952	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28652618	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35301480	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35838363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56030759	0.87[EUR][1000 genomes]
rs58729290	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7210978	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7214152	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7214988	0.89[EUR][1000 genomes]
rs7215055	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7216223	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7222358	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7224725	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7225421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978969	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8064558	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8070432	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8074742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8081961	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9889584	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9889795	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9890062	0.82[AMR][1000 genomes]
rs9897362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9903468	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9903503	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904004	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9905032	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9905191	1.00[EUR][1000 genomes]
rs9910747	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9944423	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
2	chr17:17436800-17479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:17443400-17467000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:17444200-17467400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:17444400-17469200	Weak transcription	Fetal Brain Female	brain
6	chr17:17445200-17468400	Weak transcription	Thymus	Thymus
7	chr17:17445200-17473200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:17449600-17467000	Weak transcription	Ovary	ovary
9	chr17:17450800-17467800	Weak transcription	Brain Germinal Matrix	brain
10	chr17:17451000-17468400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr17:17453200-17468200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr17:17453400-17477800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:17454800-17469800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:17455000-17468600	Weak transcription	Brain Substantia Nigra	brain
15	chr17:17455200-17466400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:17455200-17466800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:17455200-17468000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr17:17455200-17468000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:17455200-17469200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:17455200-17471800	Weak transcription	HepG2	liver
21	chr17:17456200-17468000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:17460600-17469200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr17:17461000-17474000	Enhancers	Liver	Liver
24	chr17:17461200-17468400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:17461600-17468600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr17:17462600-17468200	Enhancers	Gastric	stomach
27	chr17:17463400-17469000	Enhancers	Stomach Mucosa	stomach
28	chr17:17463600-17468000	Weak transcription	Psoas Muscle	Psoas
29	chr17:17463600-17468600	Weak transcription	Left Ventricle	heart
30	chr17:17464200-17466400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr17:17464200-17472200	Enhancers	Lung	lung
32	chr17:17464200-17477800	Weak transcription	Dnd41	blood
33	chr17:17464600-17466400	Enhancers	HUVEC	blood vessel
34	chr17:17464600-17466600	Strong transcription	Fetal Intestine Small	intestine
35	chr17:17464600-17466600	Strong transcription	Fetal Stomach	stomach
36	chr17:17464600-17473200	Enhancers	Fetal Heart	heart
37	chr17:17464800-17466600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:17464800-17466600	Enhancers	Fetal Muscle Trunk	muscle
39	chr17:17464800-17474800	Enhancers	Fetal Muscle Leg	muscle
40	chr17:17465000-17466400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:17465000-17468000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:17465600-17466400	Enhancers	Colonic Mucosa	Colon
43	chr17:17465600-17466800	Weak transcription	Right Ventricle	heart
44	chr17:17465600-17469400	Weak transcription	Brain Hippocampus Middle	brain
45	chr17:17465600-17473000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:17465600-17484000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr17:17465800-17466200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:17465800-17466400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr17:17465800-17466800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr17:17465800-17467400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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