Variant report

Variant	rs62443573
Chromosome Location	chr7:38942698-38942699
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	chr7:38906776..38909465-chr7:38940924..38943623,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10085898	0.86[ASN][1000 genomes]
rs1019065	0.98[ASN][1000 genomes]
rs10229531	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10244901	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245301	0.81[AFR][1000 genomes]
rs10245322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245333	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249090	0.86[ASN][1000 genomes]
rs10250120	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251632	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10266910	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269756	0.98[ASN][1000 genomes]
rs10272658	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10274968	0.90[ASN][1000 genomes]
rs10279181	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279990	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281823	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951576	0.86[ASN][1000 genomes]
rs10951578	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980197	0.98[ASN][1000 genomes]
rs11980627	0.96[ASN][1000 genomes]
rs11983390	0.98[ASN][1000 genomes]
rs12533017	0.86[ASN][1000 genomes]
rs12533808	0.86[ASN][1000 genomes]
rs12535711	0.96[ASN][1000 genomes]
rs12672018	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228087	0.96[ASN][1000 genomes]
rs1473138	0.86[ASN][1000 genomes]
rs1473139	0.83[ASN][1000 genomes]
rs17618395	0.84[ASN][1000 genomes]
rs17619021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17680408	0.88[ASN][1000 genomes]
rs17680879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008199	0.92[ASN][1000 genomes]
rs2009277	0.98[ASN][1000 genomes]
rs2067683	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072248	0.86[ASN][1000 genomes]
rs2074853	0.87[ASN][1000 genomes]
rs2159018	0.86[ASN][1000 genomes]
rs2189853	0.82[ASN][1000 genomes]
rs2392601	0.86[ASN][1000 genomes]
rs2392602	0.86[ASN][1000 genomes]
rs2392603	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2392604	0.98[ASN][1000 genomes]
rs2392605	0.94[ASN][1000 genomes]
rs2392606	0.94[ASN][1000 genomes]
rs2392607	0.96[ASN][1000 genomes]
rs28369620	0.98[ASN][1000 genomes]
rs28460817	0.96[ASN][1000 genomes]
rs28552512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2893568	0.80[ASN][1000 genomes]
rs3735346	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779122	0.90[ASN][1000 genomes]
rs3779124	0.81[ASN][1000 genomes]
rs3779125	0.88[ASN][1000 genomes]
rs3801111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801114	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801116	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801119	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801124	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801126	0.96[ASN][1000 genomes]
rs3801127	0.96[ASN][1000 genomes]
rs3801128	0.90[ASN][1000 genomes]
rs3801132	0.86[ASN][1000 genomes]
rs3801134	0.86[ASN][1000 genomes]
rs4623319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720306	0.83[ASN][1000 genomes]
rs4723791	0.84[ASN][1000 genomes]
rs4723792	0.84[ASN][1000 genomes]
rs4723795	0.86[ASN][1000 genomes]
rs4723796	0.86[ASN][1000 genomes]
rs4723800	0.86[ASN][1000 genomes]
rs56980069	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59626436	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59995998	1.00[ASN][1000 genomes]
rs62443565	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443566	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443575	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62444126	0.86[ASN][1000 genomes]
rs62444137	0.90[ASN][1000 genomes]
rs62444140	0.90[ASN][1000 genomes]
rs6415270	0.84[ASN][1000 genomes]
rs6462868	0.86[ASN][1000 genomes]
rs6462869	0.86[ASN][1000 genomes]
rs6462870	0.86[ASN][1000 genomes]
rs6943746	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945239	0.98[ASN][1000 genomes]
rs6946636	0.86[ASN][1000 genomes]
rs6948026	0.98[ASN][1000 genomes]
rs6955677	0.98[ASN][1000 genomes]
rs6959858	0.90[ASN][1000 genomes]
rs6960585	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963364	0.86[ASN][1000 genomes]
rs6966738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968196	0.86[ASN][1000 genomes]
rs6969435	0.86[ASN][1000 genomes]
rs6973415	0.98[ASN][1000 genomes]
rs6974795	0.98[ASN][1000 genomes]
rs73123612	0.90[ASN][1000 genomes]
rs73127433	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131153	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7776996	0.98[ASN][1000 genomes]
rs7782927	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788383	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793692	0.96[ASN][1000 genomes]
rs7798033	0.81[ASN][1000 genomes]
rs8180877	0.98[ASN][1000 genomes]
rs917320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917322	0.96[ASN][1000 genomes]
rs929422	0.86[ASN][1000 genomes]
rs9639805	0.84[ASN][1000 genomes]
rs9655397	0.90[ASN][1000 genomes]
rs982392	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830967	chr7:38913837-39069253	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62443573	CCDC32	trans	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38886200-38947800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:38889400-38948200	Weak transcription	Gastric	stomach
3	chr7:38903800-38947000	Weak transcription	Small Intestine	intestine
4	chr7:38906000-38947800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:38908800-38943000	Weak transcription	Esophagus	oesophagus
6	chr7:38908800-38947800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:38908800-38948000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:38909000-38947800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:38911800-38948200	Weak transcription	Aorta	Aorta
10	chr7:38916800-38948200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:38918800-38948000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:38921000-38946800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:38921800-38947800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:38925200-38947800	Weak transcription	HUVEC	blood vessel
15	chr7:38926400-38948000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:38928000-38947400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:38929200-38947800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:38930000-38947600	Weak transcription	NHLF	lung
19	chr7:38930200-38946800	Weak transcription	K562	blood
20	chr7:38930200-38947400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:38930200-38947400	Weak transcription	HSMM	muscle
22	chr7:38930200-38947600	Weak transcription	Fetal Kidney	kidney
23	chr7:38930200-38947800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:38931000-38945000	Weak transcription	Primary B cells from cord blood	blood
25	chr7:38931200-38947400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:38932200-38948000	Weak transcription	Psoas Muscle	Psoas
27	chr7:38932800-38948000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:38933000-38947800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:38933000-38948200	Weak transcription	Spleen	Spleen
30	chr7:38934000-38947800	Weak transcription	Brain Angular Gyrus	brain
31	chr7:38934200-38947600	Weak transcription	Fetal Brain Male	brain
32	chr7:38935800-38946800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:38935800-38947800	Weak transcription	Fetal Stomach	stomach
34	chr7:38935800-38948000	Weak transcription	Placenta	Placenta
35	chr7:38935800-38948000	Weak transcription	Ovary	ovary
36	chr7:38936000-38947400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:38936000-38947600	Weak transcription	Fetal Lung	lung
38	chr7:38936000-38947800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:38936000-38947800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:38936000-38947800	Weak transcription	Osteobl	bone
41	chr7:38936200-38943800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:38936200-38947600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:38936200-38947600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:38936200-38947600	Weak transcription	Fetal Brain Female	brain
45	chr7:38936200-38948000	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:38936200-38948000	Weak transcription	Thymus	Thymus
47	chr7:38936400-38946800	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:38936400-38947600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:38936400-38947600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:38936400-38947600	Weak transcription	Adipose Nuclei	Adipose

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