Variant report

Variant	rs12589568
Chromosome Location	chr14:21281296-21281297
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21273010..21275835-chr14:21280713..21283155,2	K562	blood:
2	chr14:21280049..21281991-chr14:21288269..21289909,2	K562	blood:
3	chr14:21270447..21273130-chr14:21280293..21282365,2	K562	blood:

Variant related genes	Relation type
ENSG00000129538	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55637360	1.00[AMR][1000 genomes]
rs73581754	1.00[AMR][1000 genomes]
rs73581777	1.00[AMR][1000 genomes]
rs73584040	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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
7	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21274000-21294800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:21274400-21285400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:21274400-21288000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:21274400-21288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:21277000-21285400	Weak transcription	Thymus	Thymus
6	chr14:21277800-21281600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr14:21278000-21282200	Enhancers	Pancreas	Pancrea
8	chr14:21278600-21284200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:21279200-21282800	Enhancers	Fetal Intestine Small	intestine
10	chr14:21279800-21281400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:21279800-21281600	Enhancers	Stomach Mucosa	stomach
12	chr14:21279800-21282000	Enhancers	Fetal Intestine Large	intestine
13	chr14:21279800-21282800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr14:21280000-21281400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:21280000-21281600	Enhancers	Fetal Muscle Trunk	muscle
16	chr14:21280000-21283600	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:21280200-21281600	Enhancers	Spleen	Spleen
18	chr14:21280400-21281800	Weak transcription	Right Ventricle	heart
19	chr14:21280400-21282600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:21280600-21282000	Enhancers	Small Intestine	intestine
21	chr14:21280600-21284200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:21280600-21285000	Weak transcription	Adipose Nuclei	Adipose
23	chr14:21280600-21285200	Weak transcription	K562	blood
24	chr14:21280800-21281800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:21280800-21282400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr14:21280800-21285000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:21281200-21281400	Bivalent Enhancer	HepG2	liver
28	chr14:21281200-21281800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:21281200-21282000	Bivalent Enhancer	Placenta	Placenta
30	chr14:21281200-21284800	Weak transcription	Primary monocytes fromperipheralblood	blood

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