Variant report

Variant	rs67989872
Chromosome Location	chr4:119648150-119648151
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119642303..119644836-chr4:119647066..119649868,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11724866	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11730728	0.88[EUR][1000 genomes]
rs11735989	0.89[EUR][1000 genomes]
rs11945703	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12640223	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12646268	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12646298	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12648682	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12648778	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13105145	0.84[EUR][1000 genomes]
rs13105732	0.82[EUR][1000 genomes]
rs13111664	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13115157	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13124091	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13146440	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13146816	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13150663	0.89[EUR][1000 genomes]
rs2029399	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2046779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2288307	0.89[EUR][1000 genomes]
rs3087958	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34091082	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270389	0.85[EUR][1000 genomes]
rs34508500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34628947	0.85[EUR][1000 genomes]
rs35023705	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35071348	0.87[EUR][1000 genomes]
rs35392662	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35404779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35522890	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35613641	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35952841	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36023173	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3733517	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66500248	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66942289	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67151421	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813357	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6814447	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6817790	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6818241	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6821350	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6827740	0.89[EUR][1000 genomes]
rs6828070	0.86[ASN][1000 genomes]
rs6829010	0.87[EUR][1000 genomes]
rs6831197	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6836005	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6837652	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6847706	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6849714	0.83[EUR][1000 genomes]
rs6852706	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6853722	0.89[EUR][1000 genomes]
rs6855919	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6857285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610228	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72679004	0.82[AMR][1000 genomes]
rs72679023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7653962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7662650	0.86[EUR][1000 genomes]
rs7681835	0.88[EUR][1000 genomes]
rs7692721	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7695602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7696543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67989872	RP11-384K6.6	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
4	chr4:119609200-119648600	Weak transcription	Fetal Heart	heart
5	chr4:119620000-119660200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
7	chr4:119627400-119648600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:119627800-119648600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:119628000-119659800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:119628400-119657600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:119630400-119674200	Weak transcription	A549	lung
12	chr4:119631600-119648800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:119631600-119650800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:119631800-119649800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:119633200-119662800	Weak transcription	Brain Anterior Caudate	brain
16	chr4:119633400-119667600	Weak transcription	Brain Germinal Matrix	brain
17	chr4:119634400-119660000	Weak transcription	Brain Angular Gyrus	brain
18	chr4:119634600-119648600	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:119638400-119650200	Strong transcription	Osteobl	bone
20	chr4:119638400-119650600	Strong transcription	NH-A	brain
21	chr4:119638400-119650800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:119638600-119648800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:119638600-119650600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:119639400-119648600	Strong transcription	HSMM	muscle
25	chr4:119639600-119651600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:119640600-119662200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr4:119640800-119692600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:119641200-119652600	Strong transcription	HSMMtube	muscle
29	chr4:119641200-119659600	Strong transcription	Fetal Intestine Large	intestine
30	chr4:119641400-119649200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:119641400-119649800	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr4:119641400-119650600	Strong transcription	NHDF-Ad	bronchial
33	chr4:119641600-119649000	Weak transcription	Fetal Brain Male	brain
34	chr4:119641600-119650800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:119641600-119659400	Strong transcription	Liver	Liver
36	chr4:119641600-119679800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr4:119641800-119650600	Strong transcription	HepG2	liver
38	chr4:119642000-119649800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:119642000-119650600	Strong transcription	HUVEC	blood vessel
40	chr4:119642000-119653200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:119642000-119653400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:119642000-119654400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr4:119642000-119661200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:119642000-119662000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:119642000-119662000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr4:119642000-119666800	Strong transcription	Placenta	Placenta
47	chr4:119642200-119650400	Strong transcription	NHLF	lung
48	chr4:119642200-119668200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr4:119642400-119656400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr4:119642400-119662000	Strong transcription	Adipose Nuclei	Adipose

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