Variant report

Variant	rs10034154
Chromosome Location	chr4:57176028-57176029
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57175601..57178505-chr4:57178570..57181893,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10031550	0.83[EUR][1000 genomes]
rs11733474	0.80[ASN][1000 genomes]
rs12331363	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12331412	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13114104	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1356788	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1401912	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1464286	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1976815	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1996650	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2030365	0.81[EUR][1000 genomes]
rs28559894	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2899063	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3796542	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3796547	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822003	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4167	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4865087	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4865100	0.80[AMR][1000 genomes]
rs4865101	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57503982	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59615456	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61750793	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62310633	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6554352	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6554355	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6554356	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6812041	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6826795	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7657711	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7661712	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7683781	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9683679	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9684298	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9993277	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9997639	0.80[AMR][1000 genomes];0.80[EUR][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	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10034154	PPAT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57149400-57179400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:57156800-57177800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:57162800-57189400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:57163000-57177800	Weak transcription	Colonic Mucosa	Colon
5	chr4:57163000-57184000	Weak transcription	Right Atrium	heart
6	chr4:57163400-57180400	Weak transcription	Pancreas	Pancrea
7	chr4:57167600-57179600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:57167600-57203400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:57167800-57176200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:57167800-57176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:57167800-57177000	Weak transcription	Brain Substantia Nigra	brain
12	chr4:57167800-57178800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:57167800-57179000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:57167800-57218600	Weak transcription	Small Intestine	intestine
15	chr4:57168000-57177000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:57168400-57179600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:57168600-57179200	Weak transcription	Ovary	ovary
18	chr4:57170200-57176600	Weak transcription	Fetal Lung	lung
19	chr4:57170400-57176400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:57171000-57187400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:57171800-57176400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:57172000-57176400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:57172000-57180000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:57172000-57204000	Weak transcription	Stomach Mucosa	stomach
25	chr4:57172600-57179800	Weak transcription	Placenta	Placenta
26	chr4:57172600-57180000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:57173000-57180200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:57173200-57202800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:57173600-57176200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:57173600-57180000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:57173800-57177600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:57173800-57182600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr4:57173800-57185200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:57174200-57176400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:57174400-57176200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:57174400-57176200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:57174400-57176400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:57174400-57179400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:57174400-57195000	Strong transcription	Fetal Intestine Small	intestine
40	chr4:57174400-57203800	Weak transcription	Fetal Kidney	kidney
41	chr4:57174600-57176400	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:57174600-57179000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:57174600-57180200	Strong transcription	Fetal Intestine Large	intestine
44	chr4:57174600-57182200	Weak transcription	HepG2	liver
45	chr4:57174600-57197200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr4:57175000-57177000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:57175000-57179400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:57175200-57177400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:57175800-57176200	Weak transcription	Fetal Brain Female	brain
50	chr4:57175800-57177400	Weak transcription	Fetal Stomach	stomach

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