Variant report

Variant	rs16945174
Chromosome Location	chr17:59436251-59436252
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59378379..59379167-chr17:59435800..59436593,2	MCF-7	breast:
2	chr17:59435078..59438704-chr20:49373134..49376407,3	MCF-7	breast:
3	chr17:59436220..59436894-chr17:59535109..59535767,2	MCF-7	breast:
4	chr17:59435175..59440697-chr20:49376676..49379912,5	MCF-7	breast:
5	chr17:59415713..59496229-chr20:49401322..49431802,760	MCF-7	breast:
6	chr17:59119411..59119957-chr17:59436164..59436699,2	MCF-7	breast:
7	chr17:59391850..59393190-chr17:59435876..59436799,3	MCF-7	breast:
8	chr17:59436170..59436868-chr17:59470635..59471672,3	MCF-7	breast:
9	chr17:59435902..59436696-chr21:46359800..46360423,2	MCF-7	breast:
10	chr17:59079658..59080295-chr17:59435980..59436810,3	MCF-7	breast:
11	chr17:59436196..59437038-chr17:59486560..59487505,4	MCF-7	breast:
12	chr17:59435681..59437854-chr20:45984284..45986415,2	MCF-7	breast:
13	chr17:59435925..59436877-chr20:49406745..49408205,8	MCF-7	breast:
14	chr17:59406940..59447393-chr20:49402944..49426846,176	MCF-7	breast:
15	chr17:59435895..59436833-chr20:49414802..49415782,4	MCF-7	breast:
16	chr17:59435283..59436930-chr20:49409828..49412292,30	MCF-7	breast:
17	chr17:59394952..59396619-chr17:59435811..59436852,12	MCF-7	breast:
18	chr17:59426787..59427566-chr17:59435720..59436445,2	MCF-7	breast:
19	chr16:4303746..4304545-chr17:59435904..59436829,2	MCF-7	breast:
20	chr17:58798112..58799056-chr17:59435933..59436646,2	K562	blood:
21	chr17:59435671..59436798-chr17:59477275..59478214,3	MCF-7	breast:
22	chr17:59435016..59437010-chr20:49410157..49412567,75	MCF-7	breast:
23	chr17:59435687..59436803-chr17:59467005..59467821,4	MCF-7	breast:
24	chr17:59435819..59436457-chr20:49406892..49407746,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000262468	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000141376	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000124243	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000121068	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1010270	1.00[JPT][hapmap]
rs10515196	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16945232	1.00[JPT][hapmap]
rs16945233	1.00[JPT][hapmap]
rs3785838	1.00[JPT][hapmap]
rs4459608	1.00[JPT][hapmap]
rs57160748	0.86[ASN][1000 genomes]
rs7211156	1.00[JPT][hapmap]
rs734375	1.00[JPT][hapmap]
rs758600	1.00[JPT][hapmap]
rs8066259	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065939	chr17:59283350-59517730	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	331 gene(s)	inside rSNPs	diseases
2	nsv833505	chr17:59323466-59518007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	326 gene(s)	inside rSNPs	diseases
3	nsv833506	chr17:59362377-59562984	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	334 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59388800-59444200	Weak transcription	Primary T cells from cord blood	blood
2	chr17:59416200-59444800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:59416800-59439200	Weak transcription	Psoas Muscle	Psoas
4	chr17:59424400-59437800	Weak transcription	Adipose Nuclei	Adipose
5	chr17:59427600-59444000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr17:59427800-59450000	Weak transcription	Ovary	ovary
7	chr17:59429400-59446000	Weak transcription	Fetal Intestine Small	intestine
8	chr17:59431000-59436600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:59431000-59439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:59431000-59439400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:59431200-59436400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:59431200-59446200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:59431200-59446200	Weak transcription	Lung	lung
14	chr17:59431600-59443800	Weak transcription	Spleen	Spleen
15	chr17:59431600-59445600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:59432200-59436600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:59434000-59455400	Weak transcription	Aorta	Aorta
18	chr17:59434400-59436400	Weak transcription	A549	lung
19	chr17:59434400-59437000	Weak transcription	Esophagus	oesophagus
20	chr17:59434400-59437600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:59434400-59437600	Weak transcription	NHLF	lung
22	chr17:59434400-59437800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:59434400-59437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:59434400-59437800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:59434400-59437800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:59434400-59437800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:59434400-59437800	Weak transcription	Hela-S3	cervix
28	chr17:59434400-59437800	Weak transcription	HMEC	breast
29	chr17:59434400-59437800	Weak transcription	HSMM	muscle
30	chr17:59434400-59437800	Weak transcription	HSMMtube	muscle
31	chr17:59434400-59437800	Weak transcription	NHEK	skin
32	chr17:59434400-59437800	Weak transcription	Osteobl	bone
33	chr17:59434400-59440400	Enhancers	HepG2	liver
34	chr17:59434600-59437600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr17:59434600-59437800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:59434600-59437800	Weak transcription	NHDF-Ad	bronchial
37	chr17:59434600-59438000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:59435400-59439400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:59436200-59436400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:59436200-59436400	Enhancers	Fetal Lung	lung
41	chr17:59436200-59436600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:59436200-59439400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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