Variant report

Variant	rs34799319
Chromosome Location	chr3:136586618-136586619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:136581625..136583340-chr3:136586499..136589172,2	K562	blood:
2	chr3:136580843..136582615-chr3:136582882..136586674,6	MCF-7	breast:
3	chr3:136580474..136583340-chr3:136584375..136587999,4	K562	blood:

Variant related genes	Relation type
ENSG00000239213	Chromatin interaction
ENSG00000158092	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10935199	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12486911	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1609391	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17366234	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67782618	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877530	chr3:136514310-136604697	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	n/a
2	nsv877531	chr3:136517016-136662954	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv877532	chr3:136526939-136662603	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv877533	chr3:136539689-136662954	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34799319	PCCB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136582000-136587800	Weak transcription	Lung	lung
2	chr3:136582000-136591400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:136582000-136591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:136582000-136592600	Weak transcription	Gastric	stomach
5	chr3:136582000-136601400	Weak transcription	Spleen	Spleen
6	chr3:136582200-136591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:136582200-136591400	Weak transcription	Left Ventricle	heart
8	chr3:136582200-136594000	Weak transcription	Esophagus	oesophagus
9	chr3:136582400-136586800	Weak transcription	Fetal Intestine Large	intestine
10	chr3:136582400-136587800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:136582400-136590800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:136582400-136590800	Weak transcription	Right Atrium	heart
13	chr3:136582400-136591400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:136582400-136593000	Weak transcription	Right Ventricle	heart
15	chr3:136582400-136594600	Weak transcription	Colonic Mucosa	Colon
16	chr3:136582400-136602600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:136582400-136612600	Weak transcription	Pancreas	Pancrea
18	chr3:136582600-136586800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:136582600-136586800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:136582600-136587000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:136582600-136587000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:136582600-136587000	Weak transcription	Fetal Brain Female	brain
23	chr3:136582600-136587000	Weak transcription	Fetal Stomach	stomach
24	chr3:136582600-136587200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:136582600-136587400	Weak transcription	Fetal Intestine Small	intestine
26	chr3:136582600-136587400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:136582600-136587600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:136582600-136587600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:136582600-136587800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:136582600-136588000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:136582600-136589400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:136582600-136590000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:136582600-136590000	Weak transcription	NHDF-Ad	bronchial
34	chr3:136582600-136590400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:136582600-136590400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr3:136582600-136590400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:136582600-136591400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:136582600-136591400	Weak transcription	Aorta	Aorta
39	chr3:136582600-136591400	Weak transcription	A549	lung
40	chr3:136582600-136592200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:136582600-136592400	Weak transcription	Fetal Lung	lung
42	chr3:136582600-136592600	Weak transcription	HUVEC	blood vessel
43	chr3:136582600-136593200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr3:136582600-136593800	Weak transcription	Brain Substantia Nigra	brain
45	chr3:136582600-136595000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr3:136582600-136595600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:136582600-136601400	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:136582600-136602000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:136582600-136604200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr3:136582600-136604200	Weak transcription	Stomach Smooth Muscle	stomach

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