Variant report

Variant	rs3744117
Chromosome Location	chr17:17448594-17448595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17432762..17434995-chr17:17447449..17449700,2	K562	blood:
2	chr17:17447568..17449636-chr17:17462055..17463779,2	MCF-7	breast:
3	chr17:17447456..17449744-chr17:17453079..17454836,2	K562	blood:
4	chr17:17434263..17436931-chr17:17447202..17448742,2	K562	blood:
5	chr17:17439547..17441948-chr17:17448069..17450989,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASD1-2	chr17:17447584-17449725	NONHSAT146094

No data

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs3744118	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3760187	0.85[ASN][1000 genomes]
rs4646348	0.92[ASN][1000 genomes]
rs4646367	0.92[ASN][1000 genomes]
rs4646379	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646380	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4646381	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646383	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646398	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56656484	0.92[ASN][1000 genomes]
rs57417963	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58146226	0.92[ASN][1000 genomes]
rs58356850	0.85[ASN][1000 genomes]
rs58810148	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58956930	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60343188	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs70959694	0.92[ASN][1000 genomes]
rs8075019	0.88[ASN][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	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv907750	chr17:17439458-17460180	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 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	chr17:17424600-17460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:17434800-17448600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr17:17436800-17479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr17:17438800-17450800	Enhancers	Fetal Muscle Leg	muscle
6	chr17:17439800-17448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:17439800-17448600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr17:17439800-17453200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:17440000-17448600	Weak transcription	HSMMtube	muscle
10	chr17:17440000-17453200	Weak transcription	Brain Substantia Nigra	brain
11	chr17:17440200-17454800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:17440400-17450000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr17:17441400-17448600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:17441600-17448600	Weak transcription	Ovary	ovary
15	chr17:17441600-17448600	Weak transcription	Right Atrium	heart
16	chr17:17442800-17456400	Weak transcription	Small Intestine	intestine
17	chr17:17443400-17467000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:17444000-17454400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:17444000-17454400	Weak transcription	Placenta	Placenta
20	chr17:17444200-17448600	Weak transcription	Colonic Mucosa	Colon
21	chr17:17444200-17451600	Weak transcription	Lung	lung
22	chr17:17444200-17454400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:17444200-17467400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:17444400-17448600	Weak transcription	Gastric	stomach
25	chr17:17444400-17449800	Weak transcription	HepG2	liver
26	chr17:17444400-17469200	Weak transcription	Fetal Brain Female	brain
27	chr17:17444600-17449400	Weak transcription	Brain Hippocampus Middle	brain
28	chr17:17444600-17449600	Weak transcription	Fetal Intestine Large	intestine
29	chr17:17444600-17449600	Weak transcription	Left Ventricle	heart
30	chr17:17444600-17449800	Weak transcription	Fetal Brain Male	brain
31	chr17:17444600-17450600	Weak transcription	Stomach Mucosa	stomach
32	chr17:17444600-17460400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr17:17444600-17464600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:17444800-17448600	Weak transcription	Right Ventricle	heart
35	chr17:17444800-17449000	Weak transcription	Fetal Heart	heart
36	chr17:17444800-17464000	Weak transcription	Esophagus	oesophagus
37	chr17:17445200-17468400	Weak transcription	Thymus	Thymus
38	chr17:17445200-17473200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr17:17446600-17449000	Enhancers	Liver	Liver
40	chr17:17446600-17451600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:17447400-17448600	Weak transcription	HSMM	muscle
42	chr17:17447400-17461000	Weak transcription	Pancreas	Pancrea
43	chr17:17447600-17448600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:17447800-17448600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:17448000-17448600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr17:17448000-17449200	Strong transcription	Fetal Intestine Small	intestine
47	chr17:17448200-17448800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:17448400-17448600	Genic enhancers	Fetal Stomach	stomach
49	chr17:17448400-17448800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:17448400-17449000	Genic enhancers	Spleen	Spleen

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