Variant report

Variant	rs549865
Chromosome Location	chr13:91787971-91787972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:91787952-91788113	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91786712..91788459-chr13:91998699..92001086,2	K562	blood:
2	chr13:91786353..91788781-chr13:91998699..92002863,6	K562	blood:
3	chr13:91786618..91788402-chr13:92003318..92004961,2	K562	blood:
4	chr13:91785963..91788672-chr13:91792933..91794568,2	K562	blood:
5	chr13:91785529..91788379-chr13:92011883..92013618,2	K562	blood:
6	chr13:91786033..91789821-chr13:91798807..91802638,3	K562	blood:
7	chr13:91785963..91788672-chr13:91792933..91795639,3	K562	blood:
8	chr13:91777983..91781130-chr13:91787322..91791635,3	K562	blood:

No data

Variant related genes	Relation type
LINC00379	TF binding region
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1020800	0.85[EUR][1000 genomes]
rs1020801	0.85[EUR][1000 genomes]
rs1174782	0.88[EUR][1000 genomes]
rs1174784	0.85[EUR][1000 genomes]
rs1332218	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs148771	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167003	0.96[EUR][1000 genomes]
rs16952571	0.96[EUR][1000 genomes]
rs287490	0.91[EUR][1000 genomes]
rs287491	0.89[EUR][1000 genomes]
rs287492	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs287493	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs287494	0.93[EUR][1000 genomes]
rs287495	0.92[EUR][1000 genomes]
rs287496	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287497	0.90[EUR][1000 genomes]
rs287498	0.90[EUR][1000 genomes]
rs287499	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287500	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287501	0.93[EUR][1000 genomes]
rs287502	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs287504	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287505	0.93[EUR][1000 genomes]
rs287506	0.94[EUR][1000 genomes]
rs287508	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287509	0.94[EUR][1000 genomes]
rs287510	0.94[EUR][1000 genomes]
rs287511	0.94[EUR][1000 genomes]
rs287512	0.94[EUR][1000 genomes]
rs287513	0.94[EUR][1000 genomes]
rs287514	0.96[EUR][1000 genomes]
rs287515	0.94[EUR][1000 genomes]
rs287516	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287517	0.96[EUR][1000 genomes]
rs287518	0.96[EUR][1000 genomes]
rs287522	0.96[EUR][1000 genomes]
rs287523	0.96[EUR][1000 genomes]
rs287524	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287525	0.92[EUR][1000 genomes]
rs287526	0.96[EUR][1000 genomes]
rs287527	0.98[EUR][1000 genomes]
rs287528	0.96[EUR][1000 genomes]
rs287529	0.96[EUR][1000 genomes]
rs287535	0.82[EUR][1000 genomes]
rs3764129	0.88[EUR][1000 genomes]
rs476066	0.82[EUR][1000 genomes]
rs481037	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs492117	0.85[EUR][1000 genomes]
rs504180	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs505160	0.85[EUR][1000 genomes]
rs506173	0.85[EUR][1000 genomes]
rs506238	0.85[EUR][1000 genomes]
rs512524	0.85[EUR][1000 genomes]
rs515029	0.85[EUR][1000 genomes]
rs515097	0.85[EUR][1000 genomes]
rs515850	0.85[EUR][1000 genomes]
rs521178	0.83[EUR][1000 genomes]
rs536365	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs538062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539504	0.85[EUR][1000 genomes]
rs543567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544464	0.85[EUR][1000 genomes]
rs550731	0.83[EUR][1000 genomes]
rs558827	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs568455	0.96[EUR][1000 genomes]
rs568694	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571202	0.96[EUR][1000 genomes]
rs582256	0.96[EUR][1000 genomes]
rs583053	0.96[EUR][1000 genomes]
rs612195	0.88[EUR][1000 genomes]
rs613553	0.85[EUR][1000 genomes]
rs620620	0.88[EUR][1000 genomes]
rs622426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623637	0.85[EUR][1000 genomes]
rs644953	0.85[EUR][1000 genomes]
rs647785	0.85[EUR][1000 genomes]
rs650892	0.84[EUR][1000 genomes]
rs657464	0.85[EUR][1000 genomes]
rs665530	0.84[EUR][1000 genomes]
rs684050	0.85[EUR][1000 genomes]
rs693016	0.83[EUR][1000 genomes]
rs693721	0.85[EUR][1000 genomes]
rs7324853	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs76384	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922083	0.85[EUR][1000 genomes]
rs9515887	0.96[EUR][1000 genomes]
rs9523263	0.85[EUR][1000 genomes]
rs9560762	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932206	chr13:91370888-91878374	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
4	nsv900880	chr13:91625722-91848290	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1945 gene(s)	inside rSNPs	diseases
6	nsv900881	chr13:91704312-91829940	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
8	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
9	nsv832678	chr13:91771619-91932241	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91782800-91793800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:91786600-91788800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:91786800-91789200	Enhancers	Fetal Intestine Small	intestine
4	chr13:91786800-91789400	Enhancers	Fetal Kidney	kidney
5	chr13:91786800-91791200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:91786800-91791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:91787200-91788200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:91787200-91788200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:91787400-91788200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:91787400-91788800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr13:91787400-91789400	Enhancers	Fetal Intestine Large	intestine
12	chr13:91787600-91788400	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:91787600-91788400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr13:91787600-91788800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:91787600-91792000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:91787600-91792000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr13:91787600-91795800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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