Variant report

Variant	rs7336053
Chromosome Location	chr13:53034030-53034031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53033923..53036375-chr13:53036479..53039026,2	K562	blood:
2	chr13:53028078..53032210-chr13:53033257..53037371,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136108	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9536227	1.00[AFR][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	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
8	nsv900085	chr13:53022518-53216622	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv900086	chr13:53030565-53208030	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7336053	CKAP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53030200-53050800	Weak transcription	Gastric	stomach
2	chr13:53030200-53052600	Weak transcription	Spleen	Spleen
3	chr13:53030200-53053800	Weak transcription	Small Intestine	intestine
4	chr13:53030400-53034200	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr13:53030400-53035200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:53030400-53035400	Weak transcription	Left Ventricle	heart
7	chr13:53030400-53035600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:53030400-53037200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:53030400-53039200	Weak transcription	Psoas Muscle	Psoas
10	chr13:53030400-53048200	Weak transcription	Pancreas	Pancrea
11	chr13:53030400-53048400	Weak transcription	Ovary	ovary
12	chr13:53030400-53048600	Weak transcription	Aorta	Aorta
13	chr13:53030400-53050000	Weak transcription	Esophagus	oesophagus
14	chr13:53030400-53055800	Weak transcription	Lung	lung
15	chr13:53030600-53035200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr13:53030600-53035400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:53030600-53035400	Weak transcription	Placenta	Placenta
18	chr13:53030600-53037000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:53030600-53040800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr13:53030600-53044400	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:53030600-53044600	Weak transcription	Colonic Mucosa	Colon
22	chr13:53030600-53049600	Weak transcription	Brain Hippocampus Middle	brain
23	chr13:53030600-53050200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr13:53030600-53050600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:53030600-53050800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:53030600-53050800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr13:53030600-53051400	Weak transcription	Fetal Brain Male	brain
28	chr13:53030600-53052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr13:53030600-53052800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:53030800-53035000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr13:53030800-53035000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr13:53030800-53035000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr13:53030800-53035200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:53030800-53035200	Weak transcription	Fetal Kidney	kidney
35	chr13:53030800-53035600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr13:53030800-53036000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr13:53030800-53037000	Weak transcription	Brain Angular Gyrus	brain
38	chr13:53030800-53041200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr13:53030800-53042600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr13:53031000-53035000	Weak transcription	Liver	Liver
41	chr13:53031000-53035200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr13:53031000-53035200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr13:53031000-53035200	Weak transcription	Brain Anterior Caudate	brain
44	chr13:53031000-53035400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr13:53031000-53041000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr13:53031000-53042600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:53031000-53043000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr13:53031000-53049200	Weak transcription	Fetal Brain Female	brain
49	chr13:53031000-53050800	Weak transcription	Stomach Mucosa	stomach
50	chr13:53031000-53051200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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