Variant report

Variant	rs395266
Chromosome Location	chr5:112144954-112144955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112137172..112140072-chr5:112143234..112145432,3	K562	blood:
2	chr5:112133420..112135351-chr5:112144014..112145746,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10463643	0.81[EUR][1000 genomes]
rs1441375	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1661035	0.87[EUR][1000 genomes]
rs1661036	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1734243	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs187075	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1966476	0.83[EUR][1000 genomes]
rs1966477	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2229992	0.83[EUR][1000 genomes]
rs2431242	0.83[ASN][1000 genomes]
rs2439591	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2464805	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2545159	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2545162	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2545163	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2545164	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2545165	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2545169	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2546110	0.83[EUR][1000 genomes]
rs2546111	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2546116	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2952615	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35130225	0.83[ASN][1000 genomes]
rs351771	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs380144	0.81[ASN][1000 genomes]
rs386830	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs392907	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397768	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs401908	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41115	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs411356	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs42427	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs433429	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs434157	0.85[ASN][1000 genomes]
rs438252	0.81[ASN][1000 genomes]
rs458967	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs459552	0.92[ASN][1000 genomes]
rs464002	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs464708	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs465899	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs468179	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs501250	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529076	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544243	0.92[ASN][1000 genomes]
rs563556	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs866006	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs395266	SRP19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
5	chr5:112115800-112151200	Weak transcription	NHEK	skin
6	chr5:112118200-112151200	Weak transcription	Gastric	stomach
7	chr5:112118200-112155600	Weak transcription	Right Ventricle	heart
8	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
9	chr5:112129000-112149800	Weak transcription	Left Ventricle	heart
10	chr5:112129000-112151600	Weak transcription	Hela-S3	cervix
11	chr5:112129000-112154600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:112129000-112157400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:112129400-112163800	Weak transcription	Small Intestine	intestine
14	chr5:112129600-112163600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:112129800-112154800	Weak transcription	NH-A	brain
16	chr5:112130400-112145800	Weak transcription	Placenta	Placenta
17	chr5:112130600-112150000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:112130600-112150200	Weak transcription	NHLF	lung
19	chr5:112130600-112154800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:112130600-112155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:112130600-112155600	Weak transcription	Fetal Heart	heart
22	chr5:112130800-112146600	Weak transcription	HSMMtube	muscle
23	chr5:112130800-112149800	Weak transcription	Lung	lung
24	chr5:112130800-112150000	Weak transcription	Spleen	Spleen
25	chr5:112130800-112150200	Weak transcription	Aorta	Aorta
26	chr5:112130800-112151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:112130800-112151400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:112130800-112154800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:112130800-112155400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:112131200-112146400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:112131200-112151200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:112131200-112151200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:112131400-112146600	Weak transcription	Ovary	ovary
34	chr5:112131400-112151200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:112131800-112157800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:112131800-112164000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:112132000-112150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:112132000-112154800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:112132000-112174000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:112132200-112146800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:112132200-112151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:112132200-112155200	Weak transcription	Fetal Brain Male	brain
43	chr5:112132800-112179800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:112133400-112150400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:112133400-112151200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:112133400-112154800	Weak transcription	HepG2	liver
47	chr5:112133600-112150000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:112133600-112160800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:112133600-112161400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:112134000-112146400	Weak transcription	Rectal Mucosa Donor 29	rectum

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