Variant report

Variant	rs7321936
Chromosome Location	chr13:53005914-53005915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61957976	0.84[EUR][1000 genomes]
rs61957977	0.84[EUR][1000 genomes]
rs61957978	0.84[EUR][1000 genomes]
rs9526890	0.84[EUR][1000 genomes]
rs9526895	0.84[EUR][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	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3434605	chr13:52999509-53034851	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7321936	CKAP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52980200-53021600	Weak transcription	Small Intestine	intestine
2	chr13:52981000-53022800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:52982800-53012600	Weak transcription	Fetal Brain Male	brain
4	chr13:52983800-53016600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr13:52984400-53023400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:52984800-53013400	Strong transcription	Dnd41	blood
7	chr13:52985000-53013400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:52985000-53017400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr13:52985000-53019400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:52985600-53010600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr13:52986000-53017000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr13:52986600-53013400	Strong transcription	Liver	Liver
13	chr13:52987200-53023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr13:52988800-53010000	Weak transcription	Esophagus	oesophagus
15	chr13:52989000-53006000	Weak transcription	NHLF	lung
16	chr13:52989000-53015000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:52989000-53016200	Strong transcription	Adipose Nuclei	Adipose
18	chr13:52989000-53021600	Weak transcription	Fetal Heart	heart
19	chr13:52989000-53022800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:52989400-53015000	Weak transcription	Lung	lung
21	chr13:52990800-53015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:52991000-53007200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr13:52991200-53017000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:52991600-53008800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr13:52993200-53010000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr13:52993400-53008000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr13:52993400-53008400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:52993400-53008400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:52995000-53017800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:52995200-53023800	Weak transcription	Aorta	Aorta
31	chr13:52995600-53008800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:52995800-53019800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:52995800-53023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:52996200-53011200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr13:52999000-53022400	Weak transcription	Right Ventricle	heart
36	chr13:53000400-53007800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr13:53000600-53022200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:53001200-53006600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:53001800-53022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr13:53002000-53016400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr13:53002000-53016800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:53002200-53017000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:53002200-53019400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:53002400-53006400	Strong transcription	Primary T cells from cord blood	blood
45	chr13:53002400-53006400	Enhancers	HUVEC	blood vessel
46	chr13:53002400-53006600	Strong transcription	Fetal Muscle Leg	muscle
47	chr13:53002400-53010400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr13:53002400-53017000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr13:53002400-53017600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr13:53002800-53008200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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