Variant report

Variant	rs72792271
Chromosome Location	chr5:127343989-127343990
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	chr5:127338244..127340714-chr5:127341909..127344131,2	K562	blood:
2	chr5:127341675..127343994-chr5:127346186..127349178,2	K562	blood:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10455050	1.00[ASN][1000 genomes]
rs12188497	1.00[ASN][1000 genomes]
rs12189448	1.00[ASN][1000 genomes]
rs55965126	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv599667	chr5:127336033-127347056	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv599668	chr5:127336033-127347815	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv599669	chr5:127336280-127348710	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72792271	FBN2	cis	thalamus	BrainEAC

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:127324000-127350400	Weak transcription	HSMMtube	muscle
3	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
6	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
8	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:127331800-127345000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
11	chr5:127333600-127354200	Weak transcription	Left Ventricle	heart
12	chr5:127333600-127358200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:127333600-127358400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
16	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:127334600-127394000	Weak transcription	Lung	lung
18	chr5:127335000-127355800	Weak transcription	Primary T cells from cord blood	blood
19	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
20	chr5:127335800-127349400	Weak transcription	Fetal Intestine Small	intestine
21	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:127338400-127355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:127338600-127344600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:127338600-127346400	Weak transcription	NHEK	skin
25	chr5:127338600-127358400	Weak transcription	HMEC	breast
26	chr5:127338600-127359400	Weak transcription	Ovary	ovary
27	chr5:127339000-127354600	Weak transcription	Primary B cells from cord blood	blood
28	chr5:127341200-127345000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:127341800-127356000	Weak transcription	Psoas Muscle	Psoas
30	chr5:127342000-127358600	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:127342800-127344000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:127343000-127380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:127343200-127344400	Enhancers	A549	lung
34	chr5:127343800-127361600	Weak transcription	Adipose Nuclei	Adipose

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