Variant report

Variant	rs17361216
Chromosome Location	chr4:153029463-153029464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11727245	0.97[ASN][1000 genomes]
rs11732677	0.83[MEX][hapmap]
rs11734900	0.97[ASN][1000 genomes]
rs13107968	0.97[ASN][1000 genomes]
rs13140099	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13147317	0.93[ASN][1000 genomes]
rs13151283	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17276450	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17276520	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17361258	1.00[ASN][1000 genomes]
rs1991223	0.87[MEX][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs28531716	0.92[ASN][1000 genomes]
rs34067446	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34509512	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34771630	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35336515	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35897176	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66476112	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843300	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh 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	12 gene(s)	inside rSNPs	diseases
2	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17361216	FGB	cis	cerebellum	SCAN
rs17361216	RP11-18H21.1	cis	Whole Blood	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153023800-153040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:153024200-153031400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:153024200-153032600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr4:153024400-153030800	Weak transcription	Fetal Brain Female	brain
5	chr4:153024800-153030000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:153024800-153032200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr4:153024800-153032200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:153024800-153032200	Enhancers	Fetal Muscle Leg	muscle
9	chr4:153024800-153037000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:153025400-153032600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr4:153025400-153032600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr4:153025600-153030600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr4:153026200-153032600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:153026400-153032200	Enhancers	Thymus	Thymus
15	chr4:153026600-153030600	Weak transcription	Fetal Kidney	kidney
16	chr4:153026600-153031800	Enhancers	Fetal Thymus	thymus
17	chr4:153026800-153030600	Enhancers	Stomach Smooth Muscle	stomach
18	chr4:153027000-153030800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:153027000-153031600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:153027200-153031600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:153027200-153032400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr4:153027600-153030800	Enhancers	Brain Angular Gyrus	brain
23	chr4:153027600-153030800	Enhancers	Brain Anterior Caudate	brain
24	chr4:153027800-153030400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:153027800-153031000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:153027800-153031400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:153027800-153031600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:153028000-153030400	Weak transcription	Fetal Lung	lung
29	chr4:153028000-153030400	Weak transcription	Dnd41	blood
30	chr4:153028000-153030600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:153028000-153031800	Enhancers	Fetal Brain Male	brain
32	chr4:153028000-153033200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr4:153028000-153035800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:153028200-153030200	Weak transcription	HUVEC	blood vessel
35	chr4:153028200-153030600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:153028200-153030800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:153028200-153033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:153028400-153030200	Weak transcription	Adipose Nuclei	Adipose
39	chr4:153028400-153030200	Weak transcription	Right Ventricle	heart
40	chr4:153028400-153030200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:153028400-153030600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:153028400-153030800	Weak transcription	NH-A	brain
43	chr4:153028400-153033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:153028400-153033600	Weak transcription	Psoas Muscle	Psoas
45	chr4:153028600-153030200	Weak transcription	Left Ventricle	heart
46	chr4:153028600-153030600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:153028600-153030600	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:153028600-153030600	Weak transcription	Osteobl	bone
49	chr4:153028600-153031400	Enhancers	Brain Cingulate Gyrus	brain
50	chr4:153028600-153033200	Weak transcription	Right Atrium	heart

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