Variant report

Variant	rs74085783
Chromosome Location	chr13:53013218-53013219
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	chr13:52985298..52988100-chr13:53012949..53014836,2	K562	blood:
2	chr13:53011049..53014413-chr13:53028431..53030493,3	K562	blood:

Variant related genes	Relation type
ENSG00000136108	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55645852	0.88[AFR][1000 genomes]
rs55796806	1.00[AFR][1000 genomes]
rs55924773	0.88[AFR][1000 genomes]
rs56116089	0.88[AFR][1000 genomes]
rs56252739	0.88[AFR][1000 genomes]
rs57214011	0.88[AFR][1000 genomes]
rs58762975	0.88[AFR][1000 genomes]
rs60539260	0.94[AFR][1000 genomes]
rs60864284	0.88[AFR][1000 genomes]
rs74085745	0.88[AFR][1000 genomes]
rs74085746	0.88[AFR][1000 genomes]
rs74085748	0.88[AFR][1000 genomes]
rs74085750	0.88[AFR][1000 genomes]
rs74085767	0.88[AFR][1000 genomes]
rs74085776	0.88[AFR][1000 genomes]
rs74085781	0.88[AFR][1000 genomes]
rs74085795	0.88[AFR][1000 genomes]
rs74085799	0.88[AFR][1000 genomes]
rs74087304	0.88[AFR][1000 genomes]
rs74087342	1.00[AFR][1000 genomes]
rs74087343	0.84[AFR][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

No data

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	chr13:52983800-53016600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr13:52984400-53023400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:52984800-53013400	Strong transcription	Dnd41	blood
6	chr13:52985000-53013400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:52985000-53017400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr13:52985000-53019400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr13:52986000-53017000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr13:52986600-53013400	Strong transcription	Liver	Liver
11	chr13:52987200-53023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:52989000-53015000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:52989000-53016200	Strong transcription	Adipose Nuclei	Adipose
14	chr13:52989000-53021600	Weak transcription	Fetal Heart	heart
15	chr13:52989000-53022800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:52989400-53015000	Weak transcription	Lung	lung
17	chr13:52990800-53015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:52991200-53017000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:52995000-53017800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr13:52995200-53023800	Weak transcription	Aorta	Aorta
21	chr13:52995800-53019800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:52995800-53023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:52999000-53022400	Weak transcription	Right Ventricle	heart
24	chr13:53000600-53022200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr13:53001800-53022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr13:53002000-53016400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr13:53002000-53016800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:53002200-53017000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:53002200-53019400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:53002400-53017000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr13:53002400-53017600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr13:53002800-53017800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr13:53003200-53017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr13:53003400-53017000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:53003800-53015000	Weak transcription	Gastric	stomach
36	chr13:53003800-53021600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr13:53003800-53021600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr13:53003800-53021600	Weak transcription	Right Atrium	heart
39	chr13:53003800-53022000	Weak transcription	Brain Substantia Nigra	brain
40	chr13:53003800-53022400	Weak transcription	Psoas Muscle	Psoas
41	chr13:53004200-53017400	Weak transcription	Pancreas	Pancrea
42	chr13:53004800-53018200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:53005000-53017800	Strong transcription	Fetal Thymus	thymus
44	chr13:53005200-53013400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:53005200-53016000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:53005200-53017200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:53005600-53013400	Strong transcription	HSMM	muscle
48	chr13:53005800-53013400	Strong transcription	Primary B cells from cord blood	blood
49	chr13:53006000-53013400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr13:53006000-53016200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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