Variant report

Variant	rs1734243
Chromosome Location	chr5:112130086-112130087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112123801..112127041-chr5:112128309..112132302,4	K562	blood:
2	chr5:112123613..112127041-chr5:112129146..112132302,3	K562	blood:
3	chr5:112129867..112132143-chr5:112136582..112139044,2	K562	blood:
4	chr5:112126744..112130086-chr5:112131543..112134649,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1661035	0.82[EUR][1000 genomes]
rs1661036	0.81[EUR][1000 genomes]
rs187075	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1966477	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2431242	0.83[ASN][1000 genomes]
rs2439591	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2464805	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2545159	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2545162	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2545163	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2545164	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2545165	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2545169	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2546111	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2546116	0.85[EUR][1000 genomes]
rs2952615	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35130225	0.83[ASN][1000 genomes]
rs351771	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs386830	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs392907	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs395266	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397768	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs401908	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41115	0.90[AMR][1000 genomes]
rs411356	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs42427	0.91[AMR][1000 genomes]
rs433429	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs434157	0.82[ASN][1000 genomes]
rs458967	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs459552	0.89[ASN][1000 genomes]
rs464002	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs464708	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs465899	0.84[AMR][1000 genomes]
rs468179	0.83[EUR][1000 genomes]
rs501250	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs529076	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs544243	0.89[ASN][1000 genomes]
rs563556	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs866006	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
rs1734243	SRP19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr5:112098600-112131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
6	chr5:112104800-112130800	Weak transcription	Stomach Mucosa	stomach
7	chr5:112108400-112130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:112115600-112134600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:112115600-112140000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:112115800-112151200	Weak transcription	NHEK	skin
11	chr5:112117000-112130200	Weak transcription	K562	blood
12	chr5:112118200-112130200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:112118200-112136600	Weak transcription	Pancreas	Pancrea
14	chr5:112118200-112151200	Weak transcription	Gastric	stomach
15	chr5:112118200-112155600	Weak transcription	Right Ventricle	heart
16	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
17	chr5:112119000-112130200	Weak transcription	Fetal Kidney	kidney
18	chr5:112121000-112131000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:112122000-112132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:112123200-112130200	Weak transcription	A549	lung
21	chr5:112123600-112141800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:112124000-112144800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:112125000-112130800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:112125000-112131200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:112125000-112132000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr5:112125000-112140000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:112125400-112131400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:112125600-112130800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:112125600-112131000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:112125600-112132200	Strong transcription	Fetal Thymus	thymus
31	chr5:112125600-112134800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:112125800-112132000	Strong transcription	Primary T cells from cord blood	blood
33	chr5:112126200-112131000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr5:112126200-112131200	Strong transcription	Fetal Stomach	stomach
35	chr5:112126200-112131800	Strong transcription	Fetal Brain Female	brain
36	chr5:112126200-112132400	Strong transcription	Fetal Muscle Leg	muscle
37	chr5:112126400-112131600	Strong transcription	Fetal Lung	lung
38	chr5:112126400-112131600	Strong transcription	Dnd41	blood
39	chr5:112126800-112130600	Strong transcription	Primary B cells from cord blood	blood
40	chr5:112126800-112131800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:112126800-112131800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr5:112126800-112132000	Strong transcription	Adipose Nuclei	Adipose
43	chr5:112126800-112132000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:112126800-112132200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:112126800-112132400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:112126800-112134200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr5:112126800-112142000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:112127000-112131600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr5:112127600-112132000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:112127800-112140000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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