Variant report

Variant	rs6893648
Chromosome Location	chr5:68605148-68605149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68602688..68605181-chr5:68606991..68608519,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAF9-3	chr5:68603495-68607031	NONHSAT101909

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10940215	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11741775	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11741826	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11742878	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11745537	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11745591	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11749723	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11750525	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11957698	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12189282	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13154469	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168973	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28499200	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34449757	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34862981	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35316810	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35438259	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4288083	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62373182	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66514959	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs68083627	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6865481	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6869305	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6877725	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6881767	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71622283	0.83[ASN][1000 genomes]
rs72767881	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6893648	CCDC125	cis	lung	GTEx
rs6893648	CCDC125	cis	Skin Sun Exposed Lower leg	GTEx
rs6893648	MRPS36	Cis_1M	lymphoblastoid	RTeQTL
rs6893648	CCDC125	cis	Thyroid	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
2	chr5:68564200-68611200	Weak transcription	Fetal Brain Male	brain
3	chr5:68565600-68627400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:68566800-68610800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:68575600-68608200	Weak transcription	Right Ventricle	heart
6	chr5:68576000-68605200	Weak transcription	Left Ventricle	heart
7	chr5:68576200-68605200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:68576200-68609400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:68576400-68614400	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:68576400-68627600	Weak transcription	Brain Substantia Nigra	brain
11	chr5:68576400-68627800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:68576600-68627800	Weak transcription	Brain Angular Gyrus	brain
13	chr5:68577400-68605200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:68577400-68607800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:68577400-68628200	Weak transcription	Small Intestine	intestine
16	chr5:68577600-68619800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:68577600-68627400	Weak transcription	NHEK	skin
18	chr5:68577800-68626600	Weak transcription	A549	lung
19	chr5:68581600-68627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:68581800-68605200	Weak transcription	GM12878-XiMat	blood
21	chr5:68581800-68608200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:68581800-68609000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:68581800-68609200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:68581800-68611000	Weak transcription	Psoas Muscle	Psoas
25	chr5:68581800-68617800	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:68581800-68626800	Weak transcription	Fetal Brain Female	brain
27	chr5:68581800-68627600	Weak transcription	Brain Anterior Caudate	brain
28	chr5:68582800-68622400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:68585000-68609000	Weak transcription	Spleen	Spleen
30	chr5:68588600-68615800	Weak transcription	Colonic Mucosa	Colon
31	chr5:68590800-68605200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:68591200-68606200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:68591400-68605200	Weak transcription	Thymus	Thymus
34	chr5:68591400-68606200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:68591600-68609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:68591600-68614000	Weak transcription	Osteobl	bone
37	chr5:68591600-68627600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:68595800-68605200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:68595800-68605200	Weak transcription	Lung	lung
40	chr5:68596000-68605200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:68596000-68605200	Weak transcription	Gastric	stomach
42	chr5:68596000-68605400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:68596000-68626800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:68596200-68606200	Weak transcription	Adipose Nuclei	Adipose
45	chr5:68596400-68606000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:68596600-68607800	Weak transcription	Esophagus	oesophagus
47	chr5:68596600-68612800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:68597000-68608800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:68597000-68611400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:68597200-68608000	Weak transcription	Fetal Stomach	stomach

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