Variant report

Variant	rs4886453
Chromosome Location	chr15:75937273-75937274
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75658849..75660884-chr15:75936205..75938906,2	K562	blood:

Variant related genes	Relation type
ENSG00000140400	Chromatin interaction
ENSG00000260274	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1128585	0.82[EUR][1000 genomes]
rs28372916	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28372917	0.89[EUR][1000 genomes]
rs3210683	0.82[EUR][1000 genomes]
rs4886723	0.91[EUR][1000 genomes]
rs55737327	0.82[EUR][1000 genomes]
rs56178382	0.86[EUR][1000 genomes]
rs56267307	0.82[EUR][1000 genomes]
rs8025681	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
7	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	esv1813854	chr15:75898640-76002392	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
10	nsv904391	chr15:75930757-76001654	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
12	nsv904393	chr15:75932177-76001654	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	nsv984485	chr15:75932760-75965433	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4886453	MAN2C1	cis	Esophagus Muscularis	GTEx
rs4886453	MAN2C1	cis	Whole Blood	GTEx
rs4886453	CTD-2323K18.1	cis	Thyroid	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75933200-75937400	Weak transcription	Esophagus	oesophagus
2	chr15:75933200-75938800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:75933200-75938800	Weak transcription	Gastric	stomach
4	chr15:75933200-75938800	Weak transcription	Lung	lung
5	chr15:75933400-75938200	Weak transcription	Adipose Nuclei	Adipose
6	chr15:75933400-75938400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:75933400-75938400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:75933400-75938600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:75933400-75938600	Weak transcription	Colonic Mucosa	Colon
10	chr15:75933400-75938600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:75933400-75938600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:75933400-75938600	Weak transcription	Small Intestine	intestine
13	chr15:75933400-75938600	Weak transcription	NHLF	lung
14	chr15:75933400-75938800	Weak transcription	Aorta	Aorta
15	chr15:75933400-75938800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:75933400-75938800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:75933400-75938800	Weak transcription	Brain Substantia Nigra	brain
18	chr15:75933400-75938800	Weak transcription	Right Atrium	heart
19	chr15:75933400-75938800	Weak transcription	HSMM	muscle
20	chr15:75933400-75938800	Weak transcription	HSMMtube	muscle
21	chr15:75933400-75939000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr15:75933400-75939000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr15:75933600-75938200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:75933600-75938400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:75933600-75938400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:75933600-75938400	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:75933600-75938400	Weak transcription	Colon Smooth Muscle	Colon
28	chr15:75933600-75938400	Weak transcription	Fetal Intestine Large	intestine
29	chr15:75933600-75938400	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:75933600-75938400	Weak transcription	Fetal Stomach	stomach
31	chr15:75933600-75938400	Weak transcription	Psoas Muscle	Psoas
32	chr15:75933600-75938400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:75933600-75938400	Weak transcription	HMEC	breast
34	chr15:75933600-75938400	Weak transcription	NHEK	skin
35	chr15:75933600-75938600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:75933600-75938600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:75933600-75938600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:75933600-75938600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:75933600-75938600	Weak transcription	Fetal Lung	lung
40	chr15:75933600-75938600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr15:75933600-75938600	Weak transcription	Osteobl	bone
42	chr15:75933600-75938800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:75933600-75938800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr15:75933600-75938800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:75933600-75938800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:75933600-75938800	Weak transcription	Placenta	Placenta
47	chr15:75933600-75938800	Weak transcription	Spleen	Spleen
48	chr15:75933600-75939000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:75933600-75939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:75933600-75939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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