Variant report

Variant	rs386830
Chromosome Location	chr5:112182379-112182380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112181863..112184195-chr5:112311547..112314044,2	K562	blood:
2	chr5:112176263..112181367-chr5:112181688..112184725,5	K562	blood:
3	chr5:112089718..112092112-chr5:112180535..112183405,2	K562	blood:
4	chr5:112180772..112183270-chr5:112188278..112191041,2	K562	blood:
5	chr5:112181480..112186029-chr5:112194933..112197058,4	MCF-7	breast:
6	chr5:111990789..111993618-chr5:112182329..112184626,2	K562	blood:
7	chr5:112180694..112183270-chr5:112188278..112192219,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction
ENSG00000153037	Chromatin interaction
ENSG00000272869	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1093677	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12656359	0.88[ASN][1000 genomes]
rs1441375	0.81[EUR][1000 genomes]
rs151976	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs151977	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs151978	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs153545	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1661035	0.83[EUR][1000 genomes]
rs1661036	0.82[EUR][1000 genomes]
rs1734243	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs187075	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs193527	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1966476	0.82[EUR][1000 genomes]
rs1966477	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2229992	0.83[EUR][1000 genomes]
rs2431240	0.82[ASN][1000 genomes]
rs2439591	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2464805	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2545159	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2545162	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2545163	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2545164	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2545165	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2545166	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2545167	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2545169	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2546110	0.83[EUR][1000 genomes]
rs2546111	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2546116	0.85[EUR][1000 genomes]
rs2909786	0.87[ASN][1000 genomes]
rs2909787	0.87[ASN][1000 genomes]
rs2909904	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2909958	0.89[ASN][1000 genomes]
rs2952615	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs351769	0.92[ASN][1000 genomes]
rs351771	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35726351	0.91[ASN][1000 genomes]
rs372492	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs382260	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs392907	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs395266	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs397768	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs401908	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41115	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs411356	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs419632	0.91[ASN][1000 genomes]
rs42427	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs429427	0.92[ASN][1000 genomes]
rs430665	0.91[ASN][1000 genomes]
rs431287	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs433429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434090	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs434157	0.81[AMR][1000 genomes]
rs438252	0.81[AMR][1000 genomes]
rs439456	0.93[ASN][1000 genomes]
rs446567	0.86[ASN][1000 genomes]
rs455412	0.87[ASN][1000 genomes]
rs455469	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs456313	0.85[ASN][1000 genomes]
rs458451	0.87[ASN][1000 genomes]
rs458967	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs460301	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs460832	0.90[ASN][1000 genomes]
rs461424	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs461866	0.90[ASN][1000 genomes]
rs463229	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs464002	0.88[EUR][1000 genomes]
rs464708	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs465454	0.90[ASN][1000 genomes]
rs465899	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs466443	0.84[ASN][1000 genomes]
rs468179	0.83[EUR][1000 genomes]
rs468783	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs469663	0.90[ASN][1000 genomes]
rs469727	0.86[ASN][1000 genomes]
rs469760	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs481789	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs497844	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs501250	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs519397	0.90[ASN][1000 genomes]
rs529076	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs563556	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs565453	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs565603	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs569940	0.87[ASN][1000 genomes]
rs580237	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs698405	0.86[ASN][1000 genomes]
rs712662	0.90[ASN][1000 genomes]
rs712664	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs712665	0.91[ASN][1000 genomes]
rs712666	0.88[ASN][1000 genomes]
rs712668	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs712671	0.93[ASN][1000 genomes]
rs818423	0.91[ASN][1000 genomes]
rs818424	0.87[ASN][1000 genomes]
rs818425	0.87[ASN][1000 genomes]
rs818426	0.82[ASN][1000 genomes]
rs818427	0.80[AMR][1000 genomes]
rs864682	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs866006	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9011	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv1034239	chr5:112161239-112194693	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs386830	SRP19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112140400-112183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:112152000-112183800	Weak transcription	Gastric	stomach
4	chr5:112155000-112183800	Weak transcription	Aorta	Aorta
5	chr5:112163400-112183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:112165400-112182400	Weak transcription	Right Ventricle	heart
7	chr5:112174000-112182400	Weak transcription	Esophagus	oesophagus
8	chr5:112174000-112183800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:112174200-112183800	Weak transcription	Hela-S3	cervix
10	chr5:112174400-112182400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:112174400-112183600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:112174600-112183800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:112174600-112184200	Weak transcription	Ovary	ovary
14	chr5:112174800-112183800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:112174800-112183800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:112174800-112183800	Weak transcription	NHEK	skin
17	chr5:112175200-112183800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:112175400-112183800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:112175400-112187600	Weak transcription	NHLF	lung
20	chr5:112175600-112183800	Weak transcription	Psoas Muscle	Psoas
21	chr5:112175600-112183800	Weak transcription	GM12878-XiMat	blood
22	chr5:112175600-112184000	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:112175600-112184000	Weak transcription	Placenta	Placenta
24	chr5:112175800-112183600	Weak transcription	Liver	Liver
25	chr5:112175800-112183800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:112175800-112183800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:112175800-112183800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:112175800-112183800	Weak transcription	A549	lung
29	chr5:112175800-112183800	Weak transcription	Dnd41	blood
30	chr5:112176000-112183800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:112176000-112183800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:112176200-112182400	Weak transcription	Pancreas	Pancrea
33	chr5:112176200-112183800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:112176200-112183800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:112176200-112183800	Weak transcription	HUVEC	blood vessel
36	chr5:112176200-112183800	Weak transcription	NH-A	brain
37	chr5:112176200-112183800	Weak transcription	Osteobl	bone
38	chr5:112176200-112184000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:112176400-112182400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:112176400-112183600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:112176400-112183800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr5:112176400-112183800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:112176400-112183800	Weak transcription	Fetal Intestine Large	intestine
44	chr5:112176400-112183800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:112176600-112183800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:112176600-112183800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:112176600-112183800	Weak transcription	Adipose Nuclei	Adipose
48	chr5:112176600-112183800	Weak transcription	Brain Anterior Caudate	brain
49	chr5:112176600-112183800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:112176600-112183800	Weak transcription	Brain Substantia Nigra	brain

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