Variant report

Variant	rs74085781
Chromosome Location	chr13:52997599-52997600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52995666..52997611-chr13:53023270..53025763,2	K562	blood:

Variant related genes	Relation type
ENSG00000136100	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55645852	1.00[AFR][1000 genomes]
rs55796806	0.88[AFR][1000 genomes]
rs55924773	1.00[AFR][1000 genomes]
rs56116089	1.00[AFR][1000 genomes]
rs56252739	1.00[AFR][1000 genomes]
rs56758534	0.89[AFR][1000 genomes]
rs57339165	0.88[AFR][1000 genomes]
rs57461595	0.88[AFR][1000 genomes]
rs60539260	0.82[AFR][1000 genomes]
rs60864284	1.00[AFR][1000 genomes]
rs61285838	0.88[AFR][1000 genomes]
rs74085735	0.88[AFR][1000 genomes]
rs74085745	1.00[AFR][1000 genomes]
rs74085746	1.00[AFR][1000 genomes]
rs74085748	1.00[AFR][1000 genomes]
rs74085750	1.00[AFR][1000 genomes]
rs74085767	1.00[AFR][1000 genomes]
rs74085773	0.89[AFR][1000 genomes]
rs74085776	1.00[AFR][1000 genomes]
rs74085783	0.88[AFR][1000 genomes]
rs74087342	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52980200-53002000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:52980200-53021600	Weak transcription	Small Intestine	intestine
3	chr13:52981000-53022800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:52982800-53012600	Weak transcription	Fetal Brain Male	brain
5	chr13:52983600-53000800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr13:52983800-53016600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr13:52984000-53002400	Weak transcription	Hela-S3	cervix
8	chr13:52984400-53023400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:52984800-53013400	Strong transcription	Dnd41	blood
10	chr13:52985000-53000600	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:52985000-53001400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:52985000-53002400	Weak transcription	K562	blood
13	chr13:52985000-53013400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:52985000-53017400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr13:52985000-53019400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr13:52985600-53000800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr13:52985600-53004000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:52985600-53010600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr13:52985800-53001400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr13:52986000-53017000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr13:52986200-53001600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr13:52986600-53013400	Strong transcription	Liver	Liver
23	chr13:52986800-53002400	Weak transcription	Stomach Mucosa	stomach
24	chr13:52987000-53004200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr13:52987200-53023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr13:52988000-53001200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr13:52988200-52999400	Strong transcription	Fetal Muscle Leg	muscle
28	chr13:52988200-53001200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr13:52988400-53001400	Strong transcription	Fetal Thymus	thymus
30	chr13:52988800-53002600	Weak transcription	Psoas Muscle	Psoas
31	chr13:52988800-53010000	Weak transcription	Esophagus	oesophagus
32	chr13:52989000-53003400	Weak transcription	Gastric	stomach
33	chr13:52989000-53006000	Weak transcription	NHLF	lung
34	chr13:52989000-53015000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:52989000-53016200	Strong transcription	Adipose Nuclei	Adipose
36	chr13:52989000-53021600	Weak transcription	Fetal Heart	heart
37	chr13:52989000-53022800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:52989400-53003400	Weak transcription	Spleen	Spleen
39	chr13:52989400-53015000	Weak transcription	Lung	lung
40	chr13:52990400-52998600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:52990400-53002400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:52990400-53003000	Weak transcription	Brain Angular Gyrus	brain
43	chr13:52990600-53001400	Strong transcription	Osteobl	bone
44	chr13:52990800-53001600	Strong transcription	Fetal Intestine Small	intestine
45	chr13:52990800-53015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr13:52991000-53000200	Strong transcription	Fetal Stomach	stomach
47	chr13:52991000-53007200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr13:52991200-53001400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:52991200-53017000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr13:52991400-52999600	Weak transcription	NHDF-Ad	bronchial

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