Variant report

Variant	rs7693683
Chromosome Location	chr4:57239180-57239181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57237069..57240019-chr4:57249640..57251353,2	K562	blood:
2	chr4:57237841..57240347-chr4:57243784..57245813,2	K562	blood:
3	chr4:57223936..57226086-chr4:57238093..57240180,2	K562	blood:

Variant related genes	Relation type
ENSG00000157426	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10031012	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10031550	0.86[EUR][1000 genomes]
rs11133438	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11133439	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11724302	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13114104	0.92[EUR][1000 genomes]
rs13133016	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13138648	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13141793	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13147824	0.91[EUR][1000 genomes]
rs1356788	0.85[EUR][1000 genomes]
rs1401912	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1464286	0.92[EUR][1000 genomes]
rs1474178	0.81[EUR][1000 genomes]
rs1976815	0.92[EUR][1000 genomes]
rs1996650	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2030362	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2030365	0.92[EUR][1000 genomes]
rs2139512	0.91[EUR][1000 genomes]
rs2292985	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2899063	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3796542	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4167	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4864578	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4864581	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4865087	0.86[EUR][1000 genomes]
rs4865090	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4865100	0.88[EUR][1000 genomes]
rs4865101	0.92[EUR][1000 genomes]
rs6554348	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554349	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6554352	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6554355	0.92[EUR][1000 genomes]
rs6554356	0.92[EUR][1000 genomes]
rs6812041	0.92[EUR][1000 genomes]
rs6826795	0.86[EUR][1000 genomes]
rs6836864	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6841016	0.81[EUR][1000 genomes]
rs6856845	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7657711	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7661712	0.92[EUR][1000 genomes]
rs7683781	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7692385	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7693137	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9312673	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9683679	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9684298	0.92[EUR][1000 genomes]
rs9762333	0.80[AMR][1000 genomes]
rs9997639	0.92[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	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	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
4	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
5	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7693683	PPAT	Cis_1M	lymphoblastoid	RTeQTL
rs7693683	AASDH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 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	chr4:57202800-57252400	Weak transcription	NHDF-Ad	bronchial
3	chr4:57203000-57252600	Weak transcription	Right Ventricle	heart
4	chr4:57203200-57251800	Weak transcription	A549	lung
5	chr4:57203400-57252400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:57204000-57252200	Weak transcription	NH-A	brain
7	chr4:57204200-57252200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:57204800-57251800	Weak transcription	Fetal Brain Male	brain
9	chr4:57207800-57253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:57211000-57251600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:57211800-57252200	Weak transcription	Fetal Heart	heart
12	chr4:57212400-57251800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:57213000-57244200	Weak transcription	Spleen	Spleen
14	chr4:57213400-57251600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:57213400-57252200	Weak transcription	NHLF	lung
16	chr4:57213600-57250200	Weak transcription	K562	blood
17	chr4:57213600-57252000	Weak transcription	HMEC	breast
18	chr4:57214400-57251800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:57214600-57252200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:57215800-57251600	Weak transcription	Brain Anterior Caudate	brain
21	chr4:57216000-57241200	Weak transcription	Pancreas	Pancrea
22	chr4:57216000-57251800	Weak transcription	HepG2	liver
23	chr4:57216000-57252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:57216000-57253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:57216200-57245600	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:57216200-57246000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:57216200-57246200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:57216400-57251800	Weak transcription	Psoas Muscle	Psoas
29	chr4:57218400-57241200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:57220600-57243400	Weak transcription	HSMM	muscle
31	chr4:57223000-57253200	Weak transcription	Esophagus	oesophagus
32	chr4:57223200-57253200	Weak transcription	Gastric	stomach
33	chr4:57223600-57251600	Weak transcription	Fetal Kidney	kidney
34	chr4:57225000-57243600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:57225000-57252200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:57226600-57245800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:57227400-57252400	Weak transcription	NHEK	skin
38	chr4:57229800-57244000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:57229800-57248200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:57229800-57251800	Weak transcription	Thymus	Thymus
41	chr4:57229800-57252400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:57229800-57252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:57229800-57252400	Weak transcription	Brain Germinal Matrix	brain
44	chr4:57229800-57253000	Weak transcription	Ovary	ovary
45	chr4:57229800-57253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:57229800-57253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:57232800-57246800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:57232800-57252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:57232800-57252400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:57232800-57253000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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