Variant report

Variant	rs60795072
Chromosome Location	chr4:124469185-124469186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:124468379..124470868-chr4:124475670..124478553,3	MCF-7	breast:
2	chr4:124430208..124432357-chr4:124468021..124469890,2	MCF-7	breast:
3	chr4:124467727..124470642-chr4:124508683..124511442,3	MCF-7	breast:
4	chr4:124317615..124319734-chr4:124466882..124469330,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164056	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12643847	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12644121	0.96[ASN][1000 genomes]
rs12644228	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12644620	0.96[ASN][1000 genomes]
rs12646555	0.96[ASN][1000 genomes]
rs17007024	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17007051	0.96[ASN][1000 genomes]
rs28827850	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57111794	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57235450	1.00[ASN][1000 genomes]
rs57904792	0.93[ASN][1000 genomes]
rs57940178	0.96[ASN][1000 genomes]
rs58280008	0.96[ASN][1000 genomes]
rs58535348	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59621223	0.93[ASN][1000 genomes]
rs59791195	0.96[ASN][1000 genomes]
rs60096196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60289595	0.96[ASN][1000 genomes]
rs6534417	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv879871	chr4:124437842-124527958	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879872	chr4:124441989-124527958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124428000-124471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:124460800-124475600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:124466600-124469400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:124467000-124469400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:124467000-124469400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:124467200-124469400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr4:124467200-124469400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:124467200-124469600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:124467200-124469600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:124467400-124469200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:124467400-124469200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:124467600-124469200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:124468000-124469600	Enhancers	Esophagus	oesophagus
14	chr4:124468000-124470800	Enhancers	HepG2	liver
15	chr4:124468600-124469200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr4:124468600-124469200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr4:124468600-124469200	Flanking Active TSS	Stomach Mucosa	stomach
18	chr4:124468600-124470600	Enhancers	Fetal Intestine Small	intestine
19	chr4:124468800-124469400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
20	chr4:124468800-124469600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:124468800-124470000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:124468800-124471000	Enhancers	Fetal Intestine Large	intestine
23	chr4:124469000-124469200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:124469000-124469200	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr4:124469000-124469200	Flanking Active TSS	Fetal Kidney	kidney
26	chr4:124469000-124469200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr4:124469000-124469400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
28	chr4:124469000-124469400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr4:124469000-124469400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:124469000-124469400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:124469000-124469400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:124469000-124469400	Enhancers	Fetal Lung	lung
33	chr4:124469000-124469600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr4:124469000-124469600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:124469000-124469600	Enhancers	Pancreas	Pancrea
36	chr4:124469000-124469600	Enhancers	HMEC	breast
37	chr4:124469000-124469600	Enhancers	NHEK	skin
38	chr4:124469000-124469800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:124469000-124470200	Enhancers	Colonic Mucosa	Colon
40	chr4:124469000-124470200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr4:124469000-124474800	Weak transcription	Placenta	Placenta

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