Variant report

Variant	rs790155
Chromosome Location	chr5:127498380-127498381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127496681..127498570-chr5:127514026..127516704,2	K562	blood:
2	chr5:127496681..127498566-chr5:127515204..127518198,2	K562	blood:
3	chr5:127496467..127499438-chr5:127501893..127503521,2	K562	blood:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1112956	1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.84[AFR][1000 genomes]
rs17764730	1.00[ASW][hapmap];0.87[CEU][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap]
rs1993878	0.94[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2250127	0.87[CEU][hapmap]
rs2409110	0.94[CEU][hapmap];0.82[CHB][hapmap];0.84[AFR][1000 genomes]
rs251393	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2568928	1.00[ASW][hapmap];0.94[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2617617	0.84[EUR][1000 genomes]
rs3101725	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3749748	1.00[ASW][hapmap];0.87[CEU][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap]
rs6889311	0.94[CEU][hapmap];0.84[AFR][1000 genomes]
rs7734927	0.93[CEU][hapmap];0.91[CHB][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs790154	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9327468	0.94[CEU][hapmap];0.82[CHB][hapmap];0.94[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs790155	FBN2	cis	cerebellum	SCAN
rs790155	CTC-228N24.3	cis	Thyroid	GTEx
rs790155	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx
rs790155	CTC-228N24.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
2	chr5:127442400-127525000	Weak transcription	Right Ventricle	heart
3	chr5:127447000-127525000	Weak transcription	Fetal Brain Male	brain
4	chr5:127453600-127525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:127457600-127534400	Weak transcription	Pancreas	Pancrea
6	chr5:127460800-127525200	Weak transcription	Spleen	Spleen
7	chr5:127463200-127533000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:127465400-127532200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:127467200-127500600	Weak transcription	Esophagus	oesophagus
10	chr5:127467600-127525000	Weak transcription	Thymus	Thymus
11	chr5:127467800-127508000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:127468000-127536800	Weak transcription	Fetal Brain Female	brain
13	chr5:127469200-127524200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:127469800-127504200	Weak transcription	Fetal Heart	heart
15	chr5:127471200-127515200	Weak transcription	Brain Germinal Matrix	brain
16	chr5:127471800-127499800	Weak transcription	NHLF	lung
17	chr5:127472400-127498800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:127473600-127521800	Weak transcription	Fetal Kidney	kidney
19	chr5:127478000-127514400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:127478400-127500200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:127478400-127524600	Weak transcription	Small Intestine	intestine
22	chr5:127478600-127531600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:127479200-127532200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:127480600-127501600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:127480600-127532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:127480600-127534400	Weak transcription	Gastric	stomach
27	chr5:127482600-127499000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:127483000-127499200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:127483000-127500200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:127484200-127499000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr5:127485000-127536800	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:127486800-127500000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:127487600-127499800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:127488600-127499400	Weak transcription	Placenta	Placenta
35	chr5:127488600-127533200	Weak transcription	Stomach Mucosa	stomach
36	chr5:127488800-127499600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:127488800-127499600	Weak transcription	HMEC	breast
38	chr5:127488800-127505200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:127488800-127523600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:127489400-127499600	Weak transcription	Osteobl	bone
41	chr5:127490400-127498400	Weak transcription	Fetal Stomach	stomach
42	chr5:127490400-127532800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:127490600-127520800	Weak transcription	Dnd41	blood
44	chr5:127490800-127529200	Weak transcription	Aorta	Aorta
45	chr5:127490800-127536600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:127491000-127498400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:127491000-127498600	Weak transcription	Lung	lung
48	chr5:127491000-127518600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:127492200-127527200	Weak transcription	NHDF-Ad	bronchial
50	chr5:127492600-127500000	Strong transcription	Duodenum Mucosa	Duodenum

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