Variant report

Variant	rs4968554
Chromosome Location	chr17:59437316-59437317
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59435078..59438704-chr20:49373134..49376407,3	MCF-7	breast:
2	chr17:59435175..59440697-chr20:49376676..49379912,5	MCF-7	breast:
3	chr17:59415713..59496229-chr20:49401322..49431802,760	MCF-7	breast:
4	chr17:59435681..59437854-chr20:45984284..45986415,2	MCF-7	breast:
5	chr17:59406940..59447393-chr20:49402944..49426846,176	MCF-7	breast:
6	chr17:59436420..59438119-chr9:132250030..132252328,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124243	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000204054	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28688948	1.00[ASN][1000 genomes]
rs3785844	0.81[EUR][1000 genomes]
rs4968555	1.00[ASN][1000 genomes]
rs62069622	1.00[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:40 , 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	chr17:59431000-59439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:59431000-59439400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:59431200-59446200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:59431200-59446200	Weak transcription	Lung	lung
12	chr17:59431600-59443800	Weak transcription	Spleen	Spleen
13	chr17:59431600-59445600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:59434000-59455400	Weak transcription	Aorta	Aorta
15	chr17:59434400-59437600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:59434400-59437600	Weak transcription	NHLF	lung
17	chr17:59434400-59437800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:59434400-59437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:59434400-59437800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:59434400-59437800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:59434400-59437800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:59434400-59437800	Weak transcription	Hela-S3	cervix
23	chr17:59434400-59437800	Weak transcription	HMEC	breast
24	chr17:59434400-59437800	Weak transcription	HSMM	muscle
25	chr17:59434400-59437800	Weak transcription	HSMMtube	muscle
26	chr17:59434400-59437800	Weak transcription	NHEK	skin
27	chr17:59434400-59437800	Weak transcription	Osteobl	bone
28	chr17:59434400-59440400	Enhancers	HepG2	liver
29	chr17:59434600-59437600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr17:59434600-59437800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:59434600-59437800	Weak transcription	NHDF-Ad	bronchial
32	chr17:59434600-59438000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:59435400-59439400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:59436200-59439400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:59436400-59437800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:59436400-59438200	Weak transcription	Fetal Lung	lung
37	chr17:59436600-59437400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr17:59436600-59439800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:59436800-59437800	Weak transcription	A549	lung
40	chr17:59437200-59437600	Weak transcription	Esophagus	oesophagus

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