Variant report

Variant	rs61969236
Chromosome Location	chr13:111264015-111264016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr13:111263520-111264076	GM12878	blood:	n/a	n/a
2	MTA3	chr13:111263204-111264136	GM12878	blood:	n/a	n/a
3	ATF2	chr13:111263279-111264374	GM12878	blood:	n/a	n/a
4	BATF	chr13:111263251-111264016	GM12878	blood:	n/a	n/a
5	NFIC	chr13:111263178-111264301	GM12878	blood:	n/a	n/a
6	STAT5A	chr13:111263227-111264063	GM12878	blood:	n/a	n/a
7	NFIC	chr13:111263071-111264029	GM12878	blood:	n/a	n/a
8	STAT3	chr13:111263430-111264171	GM12878	blood:	n/a	chr13:111263594-111263605
9	EP300	chr13:111263356-111264041	GM12878	blood:	n/a	n/a
10	FOXM1	chr13:111263217-111264049	GM12878	blood:	n/a	n/a
11	MAX	chr13:111263639-111264099	GM12878	blood:	n/a	n/a
12	RCOR1	chr13:111263473-111264086	GM12878	blood:	n/a	n/a
13	JUND	chr13:111263446-111264555	GM12878	blood:	n/a	n/a
14	ATF2	chr13:111263291-111264210	GM12878	blood:	n/a	n/a
15	PML	chr13:111263269-111264058	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111260500..111264112-chr13:111364498..111367166,4	K562	blood:
2	chr13:111260059..111265177-chr13:111265738..111269909,6	K562	blood:
3	chr13:111262796..111264408-chr13:111266461..111269067,2	K562	blood:
4	chr13:111213298..111215293-chr13:111263862..111265630,2	MCF-7	breast:
5	chr13:111254714..111256748-chr13:111263044..111265156,2	K562	blood:
6	chr13:111262131..111264525-chr13:111366020..111367721,2	MCF-7	breast:

No data

Variant related genes	Relation type
CARKD	TF binding region
ENSG00000213995	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000139832	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1043886	0.82[EUR][1000 genomes]
rs11551105	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16940507	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179356	0.85[EUR][1000 genomes]
rs191322	0.85[EUR][1000 genomes]
rs2765341	0.85[EUR][1000 genomes]
rs2986320	0.81[EUR][1000 genomes]
rs330542	0.85[EUR][1000 genomes]
rs330543	0.85[EUR][1000 genomes]
rs330544	0.85[EUR][1000 genomes]
rs330545	0.85[EUR][1000 genomes]
rs330546	0.85[EUR][1000 genomes]
rs330547	0.85[EUR][1000 genomes]
rs330548	0.85[EUR][1000 genomes]
rs330549	0.85[EUR][1000 genomes]
rs330557	0.83[EUR][1000 genomes]
rs330559	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs330572	0.85[EUR][1000 genomes]
rs371162	0.85[EUR][1000 genomes]
rs3759463	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs379324	0.85[EUR][1000 genomes]
rs380564	0.82[EUR][1000 genomes]
rs389541	0.89[EUR][1000 genomes]
rs41275126	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41275128	0.85[EUR][1000 genomes]
rs412822	0.85[EUR][1000 genomes]
rs422789	0.82[EUR][1000 genomes]
rs440771	0.85[EUR][1000 genomes]
rs61970483	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61970484	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61970486	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61970489	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61970494	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9559854	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
4	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv901010	chr13:111165390-111286592	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv901011	chr13:111168951-111280002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
12	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1038089	chr13:111229517-111274823	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
15	nsv563123	chr13:111237260-111292044	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription 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	16 gene(s)	inside rSNPs	diseases
16	nsv525124	chr13:111261267-111280002	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
17	nsv563124	chr13:111261267-111300943	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61969236	CARKD	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111262000-111264200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr13:111262600-111265200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr13:111262600-111267200	Weak transcription	HSMM	muscle
4	chr13:111263000-111267000	Weak transcription	Esophagus	oesophagus
5	chr13:111263000-111267200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:111263000-111267200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:111263000-111267400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:111263000-111267400	Weak transcription	Fetal Kidney	kidney
9	chr13:111263200-111264600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:111263200-111267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:111263200-111267400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:111263400-111264400	Active TSS	Duodenum Mucosa	Duodenum
13	chr13:111263400-111267200	Weak transcription	Placenta	Placenta
14	chr13:111263400-111267400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:111263600-111267400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr13:111263800-111264200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr13:111263800-111264200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:111263800-111264200	Active TSS	Brain Anterior Caudate	brain
19	chr13:111263800-111264200	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr13:111263800-111267600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr13:111264000-111264200	Bivalent Enhancer	Fetal Brain Female	brain
22	chr13:111264000-111264200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr13:111264000-111264200	Enhancers	NHEK	skin
24	chr13:111264000-111264200	Bivalent Enhancer	Osteobl	bone
25	chr13:111264000-111264400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:111264000-111264400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:111264000-111264600	Enhancers	GM12878-XiMat	blood
28	chr13:111264000-111267000	Weak transcription	Hela-S3	cervix
29	chr13:111264000-111267200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:111264000-111267200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:111264000-111267200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:111264000-111267400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:111264000-111267400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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