Variant report

Variant	rs6532056
Chromosome Location	chr4:76867449-76867450
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	chr4:76866002..76869034-chr4:76870161..76872901,3	K562	blood:

Variant related genes	Relation type
ENSG00000268788	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17224545	1.00[ASN][1000 genomes]
rs7656736	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7685116	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6532056	NUP54	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76862000-76868200	Weak transcription	Fetal Lung	lung
2	chr4:76862000-76871600	Weak transcription	Fetal Kidney	kidney
3	chr4:76862000-76875600	Weak transcription	Fetal Heart	heart
4	chr4:76862000-76896600	Weak transcription	Stomach Mucosa	stomach
5	chr4:76862200-76868000	Weak transcription	GM12878-XiMat	blood
6	chr4:76862200-76868200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:76862200-76871000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:76862200-76871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:76862200-76875200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:76862200-76876400	Weak transcription	Gastric	stomach
11	chr4:76862200-76876600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:76862200-76886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:76862400-76867600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:76862400-76867800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:76862400-76868000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:76862400-76868000	Weak transcription	Lung	lung
17	chr4:76862400-76868000	Weak transcription	HUVEC	blood vessel
18	chr4:76862400-76868400	Weak transcription	Ovary	ovary
19	chr4:76862400-76868400	Weak transcription	HSMMtube	muscle
20	chr4:76862400-76868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:76862400-76873400	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:76862400-76875400	Weak transcription	Spleen	Spleen
23	chr4:76862400-76876600	Weak transcription	Aorta	Aorta
24	chr4:76862400-76876600	Weak transcription	Small Intestine	intestine
25	chr4:76862600-76867600	Weak transcription	Thymus	Thymus
26	chr4:76862600-76867800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:76862600-76867800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:76862600-76867800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:76862600-76867800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:76862600-76867800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:76862600-76867800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:76862600-76867800	Weak transcription	Liver	Liver
33	chr4:76862600-76867800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:76862600-76867800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:76862600-76867800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:76862600-76867800	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:76862600-76867800	Weak transcription	Fetal Stomach	stomach
38	chr4:76862600-76867800	Weak transcription	Fetal Thymus	thymus
39	chr4:76862600-76868000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:76862600-76868000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:76862600-76868000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:76862600-76868000	Weak transcription	Primary B cells from cord blood	blood
43	chr4:76862600-76868000	Weak transcription	Primary T cells from cord blood	blood
44	chr4:76862600-76868000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:76862600-76868000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:76862600-76868000	Weak transcription	Adipose Nuclei	Adipose
47	chr4:76862600-76868000	Weak transcription	Colonic Mucosa	Colon
48	chr4:76862600-76868000	Weak transcription	Fetal Brain Female	brain
49	chr4:76862600-76868000	Weak transcription	Left Ventricle	heart
50	chr4:76862600-76868000	Weak transcription	Rectal Mucosa Donor 29	rectum

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