Variant report

Variant	rs34243788
Chromosome Location	chr3:42602278-42602279
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	chr3:42601326..42604045-chr3:42837393..42838978,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13064597	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067987	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13085143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13086680	0.91[EUR][1000 genomes]
rs13100261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17030458	0.81[EUR][1000 genomes]
rs2290976	0.93[EUR][1000 genomes]
rs339708	0.91[EUR][1000 genomes]
rs34077739	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34196076	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34721465	0.90[EUR][1000 genomes]
rs35216140	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35384559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35871059	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36043081	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733059	0.93[EUR][1000 genomes]
rs3733061	0.91[EUR][1000 genomes]
rs3900780	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959327	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994846	1.00[ASN][1000 genomes]
rs56047094	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58645732	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58825152	1.00[ASN][1000 genomes]
rs60535002	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66933062	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67174294	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67583158	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771105	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67832425	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790204	0.83[EUR][1000 genomes]
rs6794643	1.00[ASN][1000 genomes]
rs6797491	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797545	1.00[ASN][1000 genomes]
rs68004576	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71323162	1.00[ASN][1000 genomes]
rs72864022	1.00[ASN][1000 genomes]
rs73067957	1.00[ASN][1000 genomes]
rs73829255	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614219	1.00[ASN][1000 genomes]
rs7616701	1.00[ASN][1000 genomes]
rs7623867	0.83[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
rs34243788	SEC22C	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42587000-42602400	Weak transcription	Colonic Mucosa	Colon
2	chr3:42587400-42606800	Weak transcription	Small Intestine	intestine
3	chr3:42587800-42611800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:42588000-42613000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:42588400-42613000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:42588600-42618000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:42589000-42611800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:42589200-42611000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:42589400-42610800	Weak transcription	Stomach Mucosa	stomach
10	chr3:42589400-42611000	Strong transcription	Fetal Stomach	stomach
11	chr3:42589400-42612400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:42589400-42614000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:42589600-42611200	Strong transcription	Fetal Intestine Small	intestine
14	chr3:42589600-42611800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:42589800-42610600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:42589800-42611000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:42589800-42616400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:42590000-42603800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:42590000-42611600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr3:42590000-42612600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr3:42590200-42611600	Strong transcription	Fetal Muscle Leg	muscle
22	chr3:42590200-42611800	Strong transcription	Adipose Nuclei	Adipose
23	chr3:42591000-42605400	Strong transcription	Left Ventricle	heart
24	chr3:42591000-42609200	Strong transcription	Fetal Intestine Large	intestine
25	chr3:42591000-42614000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:42591200-42610400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:42591200-42611800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:42591400-42611200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:42591600-42609400	Strong transcription	Primary B cells from cord blood	blood
30	chr3:42591600-42611800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:42591800-42609400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:42591800-42609400	Strong transcription	Fetal Lung	lung
33	chr3:42591800-42610600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:42592000-42611800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:42592600-42603600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:42592800-42609200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:42592800-42609200	Strong transcription	Placenta	Placenta
38	chr3:42592800-42610600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:42593200-42605000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr3:42593400-42605200	Strong transcription	NH-A	brain
41	chr3:42593400-42611000	Strong transcription	Liver	Liver
42	chr3:42593400-42612000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr3:42593600-42611600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:42593800-42603000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:42593800-42611600	Strong transcription	Fetal Brain Female	brain
46	chr3:42594200-42603000	Strong transcription	NHDF-Ad	bronchial
47	chr3:42594200-42605200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr3:42594400-42611600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:42594600-42602800	Strong transcription	HSMM	muscle
50	chr3:42594600-42615200	Strong transcription	Fetal Muscle Trunk	muscle

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