Variant report

Variant	rs2030362
Chromosome Location	chr4:57225788-57225789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57223936..57226086-chr4:57238093..57240180,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10031012	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11133438	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11133439	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11724302	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11733474	0.87[EUR][1000 genomes]
rs13133016	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13138648	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13141793	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292985	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4864578	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4864581	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4865090	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554348	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554349	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6836864	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6856845	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7692385	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7693137	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7693683	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9312673	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9762333	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv964045	chr4:57221208-57226954	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2030362	PPAT	Cis_1M	lymphoblastoid	RTeQTL
rs2030362	AASDH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57190600-57252400	Weak transcription	Colonic Mucosa	Colon
2	chr4:57195200-57238000	Weak transcription	HUVEC	blood vessel
3	chr4:57196000-57238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:57202800-57252400	Weak transcription	NHDF-Ad	bronchial
5	chr4:57203000-57252600	Weak transcription	Right Ventricle	heart
6	chr4:57203200-57235200	Weak transcription	Osteobl	bone
7	chr4:57203200-57251800	Weak transcription	A549	lung
8	chr4:57203400-57252400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:57203600-57229400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:57204000-57252200	Weak transcription	NH-A	brain
11	chr4:57204200-57227200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:57204200-57252200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:57204800-57235400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:57204800-57251800	Weak transcription	Fetal Brain Male	brain
15	chr4:57205000-57228000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:57205200-57228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:57205200-57229200	Weak transcription	Brain Germinal Matrix	brain
18	chr4:57205400-57228000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:57207800-57253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:57211000-57251600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:57211800-57252200	Weak transcription	Fetal Heart	heart
22	chr4:57212400-57251800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:57213000-57244200	Weak transcription	Spleen	Spleen
24	chr4:57213200-57229200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:57213400-57251600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:57213400-57252200	Weak transcription	NHLF	lung
27	chr4:57213600-57250200	Weak transcription	K562	blood
28	chr4:57213600-57252000	Weak transcription	HMEC	breast
29	chr4:57214400-57251800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:57214600-57252200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:57214800-57227800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:57214800-57229000	Weak transcription	Fetal Thymus	thymus
33	chr4:57215000-57238000	Weak transcription	Brain Substantia Nigra	brain
34	chr4:57215800-57228400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:57215800-57251600	Weak transcription	Brain Anterior Caudate	brain
36	chr4:57216000-57228800	Weak transcription	Dnd41	blood
37	chr4:57216000-57235800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:57216000-57236400	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:57216000-57241200	Weak transcription	Pancreas	Pancrea
40	chr4:57216000-57251800	Weak transcription	HepG2	liver
41	chr4:57216000-57252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:57216000-57253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:57216200-57226200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:57216200-57226200	Weak transcription	Placenta	Placenta
45	chr4:57216200-57245600	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:57216200-57246000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:57216200-57246200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:57216400-57228600	Weak transcription	GM12878-XiMat	blood
49	chr4:57216400-57229200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:57216400-57251800	Weak transcription	Psoas Muscle	Psoas

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