Variant report

Variant	rs3785838
Chromosome Location	chr17:59468504-59468505
allele	C/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59079015..59081334-chr17:59466841..59468805,2	MCF-7	breast:
2	chr17:59093582..59095463-chr17:59467491..59469667,2	MCF-7	breast:
3	chr17:59415713..59496229-chr20:49401322..49431802,760	MCF-7	breast:
4	chr17:59468469..59482635-chr20:45977748..45992950,51	MCF-7	breast:
5	chr17:59468443..59470783-chr3:63106998..63109509,2	MCF-7	breast:
6	chr17:59465921..59468954-chr20:49409825..49412853,123	MCF-7	breast:
7	chr17:59468226..59469062-chr20:49410982..49411980,4	MCF-7	breast:
8	chr17:59467040..59470033-chr20:54153302..54156238,2	MCF-7	breast:
9	chr17:59078386..59080667-chr17:59467107..59468511,11	MCF-7	breast:
10	chr17:59467001..59468511-chr17:59486417..59487797,11	MCF-7	breast:
11	chr17:59468167..59483990-chr20:49341590..49352501,35	MCF-7	breast:
12	chr17:59431944..59433160-chr17:59466956..59468905,13	MCF-7	breast:
13	chr17:59467424..59470121-chr20:49376913..49378650,2	MCF-7	breast:
14	chr1:201087077..201089535-chr17:59466974..59468623,2	MCF-7	breast:
15	chr17:59467763..59469929-chr8:81084846..81086719,2	MCF-7	breast:
16	chr17:59047255..59049239-chr17:59467442..59469111,2	MCF-7	breast:
17	chr17:59466731..59469556-chr7:94964325..94965826,2	MCF-7	breast:
18	chr17:59447417..59500105-chr20:49391742..49424382,639	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141376	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000231119	Chromatin interaction
ENSG00000124243	Chromatin interaction
ENSG00000273451	Chromatin interaction
ENSG00000101040	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1010270	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10515196	1.00[JPT][hapmap]
rs16945174	1.00[JPT][hapmap]
rs16945232	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16945233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4459608	1.00[JPT][hapmap]
rs61037824	0.96[ASN][1000 genomes]
rs7211156	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7215875	1.00[ASN][1000 genomes]
rs734375	1.00[JPT][hapmap]
rs73991903	1.00[ASN][1000 genomes]
rs73991905	1.00[ASN][1000 genomes]
rs73991906	1.00[ASN][1000 genomes]
rs73993479	0.96[ASN][1000 genomes]
rs758600	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
4	nsv518130	chr17:59456589-59491281	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	265 gene(s)	inside rSNPs	diseases
5	esv1796927	chr17:59460119-59495319	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	270 gene(s)	inside rSNPs	diseases
6	nsv908663	chr17:59464069-59521310	Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	278 gene(s)	inside rSNPs	diseases
7	nsv908664	chr17:59465697-59491030	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	261 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	chr17:59438200-59470800	Weak transcription	Esophagus	oesophagus
2	chr17:59444600-59473400	Weak transcription	Right Atrium	heart
3	chr17:59447000-59473400	Weak transcription	Pancreas	Pancrea
4	chr17:59459200-59469400	Weak transcription	Brain Hippocampus Middle	brain
5	chr17:59462400-59471600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:59462600-59470800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:59463200-59469400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:59464000-59471000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:59464000-59474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:59466600-59469200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr17:59466600-59469400	Enhancers	Fetal Lung	lung
12	chr17:59466800-59468600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:59466800-59468600	Enhancers	NHLF	lung
14	chr17:59466800-59469400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:59467400-59469400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr17:59467400-59470600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:59467400-59470800	Weak transcription	Brain Anterior Caudate	brain
18	chr17:59467400-59470800	Weak transcription	Osteobl	bone
19	chr17:59467400-59471800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr17:59467400-59474000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:59467600-59468600	Weak transcription	Gastric	stomach
22	chr17:59467600-59471000	Weak transcription	Ovary	ovary
23	chr17:59467600-59471200	Weak transcription	Brain Substantia Nigra	brain
24	chr17:59467600-59471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:59467600-59472800	Weak transcription	Adipose Nuclei	Adipose
26	chr17:59467800-59468800	Weak transcription	Spleen	Spleen
27	chr17:59467800-59471000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:59467800-59471000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr17:59467800-59471000	Weak transcription	A549	lung
30	chr17:59467800-59471200	Weak transcription	NHDF-Ad	bronchial
31	chr17:59467800-59472800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:59467800-59473800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:59468000-59471000	Weak transcription	Fetal Heart	heart
34	chr17:59468000-59472200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:59468200-59469000	Enhancers	HepG2	liver
36	chr17:59468200-59469600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:59468200-59469600	Weak transcription	Right Ventricle	heart
38	chr17:59468200-59471000	Weak transcription	Lung	lung
39	chr17:59468400-59468600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:59468400-59468800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:59468400-59469600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr17:59468400-59471600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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