Variant report

Variant	rs67832425
Chromosome Location	chr3:42617430-42617431
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	chr3:42616974..42619530-chr3:42669674..42671253,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs13064597	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067987	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13072295	0.82[EUR][1000 genomes]
rs13085143	1.00[ASN][1000 genomes]
rs13085695	0.82[EUR][1000 genomes]
rs13089845	0.82[EUR][1000 genomes]
rs13090902	0.82[EUR][1000 genomes]
rs13093680	0.82[EUR][1000 genomes]
rs13095447	0.82[EUR][1000 genomes]
rs13100261	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17030458	0.97[EUR][1000 genomes]
rs17074662	0.82[EUR][1000 genomes]
rs17074673	0.82[EUR][1000 genomes]
rs17074674	0.82[EUR][1000 genomes]
rs17074693	0.82[EUR][1000 genomes]
rs2284303	0.82[EUR][1000 genomes]
rs2284304	0.82[EUR][1000 genomes]
rs2300057	0.82[EUR][1000 genomes]
rs2300058	0.82[EUR][1000 genomes]
rs2302352	0.82[EUR][1000 genomes]
rs33969824	0.82[EUR][1000 genomes]
rs339705	0.89[EUR][1000 genomes]
rs33984028	0.82[EUR][1000 genomes]
rs34077739	1.00[ASN][1000 genomes]
rs34196076	1.00[ASN][1000 genomes]
rs34243788	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34683820	0.82[EUR][1000 genomes]
rs34687113	0.80[EUR][1000 genomes]
rs34762478	0.82[EUR][1000 genomes]
rs34801786	0.82[EUR][1000 genomes]
rs34852409	0.82[EUR][1000 genomes]
rs34977988	0.82[EUR][1000 genomes]
rs35216140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35384559	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35676838	0.82[EUR][1000 genomes]
rs35871059	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35890296	0.82[EUR][1000 genomes]
rs36033201	0.82[EUR][1000 genomes]
rs36043081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774401	0.82[EUR][1000 genomes]
rs3774402	0.82[EUR][1000 genomes]
rs3774404	0.82[EUR][1000 genomes]
rs3774407	0.82[EUR][1000 genomes]
rs3846058	0.82[EUR][1000 genomes]
rs3846059	0.82[EUR][1000 genomes]
rs3856737	0.82[EUR][1000 genomes]
rs3900780	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959327	1.00[ASN][1000 genomes]
rs55994846	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56047094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56797870	0.82[EUR][1000 genomes]
rs57259216	0.82[EUR][1000 genomes]
rs58645732	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58825152	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58868911	0.82[EUR][1000 genomes]
rs59914338	0.82[EUR][1000 genomes]
rs60232916	0.82[EUR][1000 genomes]
rs60348477	0.82[EUR][1000 genomes]
rs60535002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61149998	0.82[EUR][1000 genomes]
rs6441928	0.82[EUR][1000 genomes]
rs66786953	0.81[EUR][1000 genomes]
rs66933062	1.00[ASN][1000 genomes]
rs67059259	0.82[EUR][1000 genomes]
rs67174294	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67533173	0.80[EUR][1000 genomes]
rs67583158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771105	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778982	0.82[EUR][1000 genomes]
rs6782164	0.82[EUR][1000 genomes]
rs6788548	0.82[EUR][1000 genomes]
rs6790204	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6793186	0.82[EUR][1000 genomes]
rs6794643	1.00[ASN][1000 genomes]
rs6795296	0.82[EUR][1000 genomes]
rs6797491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68004576	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68028490	0.82[EUR][1000 genomes]
rs68071013	0.82[EUR][1000 genomes]
rs71323162	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72864022	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72864072	0.82[EUR][1000 genomes]
rs73067957	1.00[ASN][1000 genomes]
rs73829255	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614219	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7616701	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7617403	0.82[EUR][1000 genomes]
rs7617736	0.82[EUR][1000 genomes]
rs7623867	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7624628	0.82[EUR][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	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67832425	SEC22C	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42588600-42618000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:42603000-42622800	Weak transcription	Colonic Mucosa	Colon
3	chr3:42604200-42622800	Weak transcription	Psoas Muscle	Psoas
4	chr3:42604200-42623000	Weak transcription	Esophagus	oesophagus
5	chr3:42604600-42622400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:42605000-42621400	Weak transcription	HMEC	breast
7	chr3:42605200-42622400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:42607800-42621600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:42607800-42622800	Weak transcription	Pancreas	Pancrea
10	chr3:42608000-42623000	Weak transcription	Gastric	stomach
11	chr3:42608600-42621400	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:42608600-42622800	Weak transcription	Aorta	Aorta
13	chr3:42609000-42621600	Weak transcription	NHLF	lung
14	chr3:42609000-42622800	Weak transcription	HSMMtube	muscle
15	chr3:42609000-42623000	Weak transcription	Spleen	Spleen
16	chr3:42609200-42621200	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:42609200-42621600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:42609200-42621600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:42609200-42621800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:42609200-42622400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:42609600-42623000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:42610000-42622000	Weak transcription	Osteobl	bone
23	chr3:42610400-42622600	Weak transcription	Right Ventricle	heart
24	chr3:42610600-42622200	Weak transcription	NH-A	brain
25	chr3:42610600-42623000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:42611000-42621800	Weak transcription	Liver	Liver
27	chr3:42611200-42621600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:42611200-42622000	Weak transcription	Brain Substantia Nigra	brain
29	chr3:42611400-42621800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:42611400-42622800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:42611600-42619600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:42611600-42621200	Weak transcription	HepG2	liver
33	chr3:42611600-42621600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:42611600-42622800	Weak transcription	Ovary	ovary
35	chr3:42611800-42621600	Weak transcription	Adipose Nuclei	Adipose
36	chr3:42611800-42621800	Weak transcription	Fetal Heart	heart
37	chr3:42613000-42617800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:42614200-42618800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:42614200-42621800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:42614200-42622200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr3:42614200-42622800	Weak transcription	Left Ventricle	heart
42	chr3:42615000-42617600	ZNF genes & repeats	GM12878-XiMat	blood
43	chr3:42615000-42617800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:42615000-42623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:42615000-42623000	Weak transcription	Lung	lung
46	chr3:42615200-42622600	Weak transcription	Thymus	Thymus
47	chr3:42615400-42618400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:42615600-42617600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
49	chr3:42615600-42620000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:42615600-42621400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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