Variant report

Variant	rs74043025
Chromosome Location	chr13:30712599-30712600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30710819..30713785-chr13:31038397..31039974,2	MCF-7	breast:
2	chr13:30710616..30714136-chr13:30716937..30719066,3	K562	blood:

Variant related genes	Relation type
ENSG00000189403	Chromatin interaction

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

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

rs_ID	r²[population]
rs17504394	1.00[ASN][1000 genomes]
rs499135	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs527603	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs550775	1.00[EUR][1000 genomes]
rs550786	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55804174	1.00[ASN][1000 genomes]
rs55966797	1.00[ASN][1000 genomes]
rs56126555	1.00[ASN][1000 genomes]
rs587669	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs603466	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs661049	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73161515	1.00[ASN][1000 genomes]
rs73161517	1.00[ASN][1000 genomes]
rs73161519	1.00[ASN][1000 genomes]
rs7321451	1.00[EUR][1000 genomes]
rs9579516	1.00[ASN][1000 genomes]
rs9579518	1.00[ASN][1000 genomes]
rs9579519	1.00[ASN][1000 genomes]
rs9579520	1.00[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	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30700200-30717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:30707400-30714400	Weak transcription	Spleen	Spleen
3	chr13:30707400-30714400	Weak transcription	GM12878-XiMat	blood
4	chr13:30707800-30715200	Weak transcription	Dnd41	blood
5	chr13:30708000-30714400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr13:30708800-30715600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:30708800-30716800	Weak transcription	Brain Anterior Caudate	brain
8	chr13:30709400-30715600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:30709600-30714600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:30709600-30715200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:30711600-30712600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:30711600-30712800	Enhancers	Osteobl	bone
13	chr13:30712000-30712800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:30712200-30712800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:30712200-30712800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:30712200-30712800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:30712200-30712800	Enhancers	Adipose Nuclei	Adipose
18	chr13:30712200-30712800	Enhancers	Brain Substantia Nigra	brain
19	chr13:30712200-30712800	Enhancers	Placenta	Placenta
20	chr13:30712200-30712800	Enhancers	Lung	lung
21	chr13:30712200-30712800	Flanking Active TSS	Hela-S3	cervix
22	chr13:30712200-30712800	Enhancers	NH-A	brain
23	chr13:30712200-30713000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:30712200-30713000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:30712200-30713000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr13:30712200-30713000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:30712200-30713000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:30712200-30713000	Enhancers	A549	lung
29	chr13:30712200-30713000	Enhancers	HUVEC	blood vessel
30	chr13:30712400-30712600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:30712400-30712600	Enhancers	NHDF-Ad	bronchial
32	chr13:30712400-30712800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:30712400-30712800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:30712400-30712800	Enhancers	Fetal Lung	lung
35	chr13:30712400-30713000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links