Variant report

Variant	rs747057
Chromosome Location	chr5:16785318-16785319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16756542..16758777-chr5:16782954..16785752,2	K562	blood:
2	chr5:16782557..16785455-chr5:16934978..16937136,2	MCF-7	breast:
3	chr5:16784701..16787932-chr5:16789785..16793090,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs256934	1.00[AMR][1000 genomes]
rs256936	1.00[AMR][1000 genomes]
rs27369	1.00[AMR][1000 genomes]
rs3188408	1.00[AMR][1000 genomes]
rs56331036	1.00[AMR][1000 genomes]
rs57469405	1.00[AMR][1000 genomes]
rs58091496	1.00[AMR][1000 genomes]
rs58336311	1.00[AMR][1000 genomes]
rs58840252	1.00[AMR][1000 genomes]
rs61252560	1.00[AMR][1000 genomes]
rs61649363	1.00[AMR][1000 genomes]
rs73051043	1.00[AMR][1000 genomes]
rs73051047	1.00[AMR][1000 genomes]
rs73051049	1.00[AMR][1000 genomes]

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	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv964758	chr5:16783252-16787402	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16755200-16795400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:16757600-16796800	Weak transcription	Right Ventricle	heart
3	chr5:16760000-16791400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:16761000-16796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:16763800-16794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:16764600-16792800	Weak transcription	Stomach Mucosa	stomach
7	chr5:16764600-16807400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:16770200-16791400	Weak transcription	Fetal Kidney	kidney
9	chr5:16770800-16792400	Weak transcription	Placenta	Placenta
10	chr5:16770800-16793800	Weak transcription	Hela-S3	cervix
11	chr5:16775200-16796800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:16776200-16785400	Strong transcription	HUVEC	blood vessel
13	chr5:16777200-16785600	Strong transcription	Fetal Intestine Small	intestine
14	chr5:16777800-16786200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:16778800-16800000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:16779400-16785400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:16779400-16791400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:16779800-16796600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:16779800-16797200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:16780200-16791000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:16780800-16791400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:16781800-16786400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:16782000-16785400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr5:16782400-16786600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:16783000-16788200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:16783000-16797000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:16783000-16797400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:16783200-16791400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:16783400-16792600	Weak transcription	Lung	lung
30	chr5:16783400-16796800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:16783400-16810000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:16783600-16785400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:16783600-16785800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:16783600-16785800	Enhancers	NHDF-Ad	bronchial
35	chr5:16783800-16785400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:16783800-16785400	Enhancers	Spleen	Spleen
37	chr5:16783800-16785400	Enhancers	HSMMtube	muscle
38	chr5:16784000-16785400	Enhancers	Fetal Muscle Leg	muscle
39	chr5:16784000-16785600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:16784000-16785600	Genic enhancers	A549	lung
41	chr5:16784200-16785800	Strong transcription	Fetal Stomach	stomach
42	chr5:16784400-16785400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:16784400-16788200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:16784400-16796800	Weak transcription	HMEC	breast
45	chr5:16784600-16785600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:16784600-16785600	Flanking Active TSS	GM12878-XiMat	blood
47	chr5:16784600-16785600	Genic enhancers	NH-A	brain
48	chr5:16784600-16785800	Enhancers	Osteobl	bone
49	chr5:16784600-16788200	Weak transcription	Fetal Intestine Large	intestine
50	chr5:16784600-16789400	Weak transcription	HepG2	liver

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