Variant report

Variant	rs3772390
Chromosome Location	chr3:135806811-135806812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1154988	1.00[CHB][hapmap]
rs1279840	0.88[CHB][hapmap]
rs34330586	0.89[ASN][1000 genomes]
rs34894639	0.90[ASN][1000 genomes]
rs3755636	0.88[CHB][hapmap]
rs4678322	0.88[ASN][1000 genomes]
rs4678428	0.88[CHB][hapmap]
rs548288	0.88[CHB][hapmap]
rs606725	0.88[CHB][hapmap]
rs61791721	0.91[ASN][1000 genomes]
rs645040	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs684773	1.00[CHB][hapmap]
rs687339	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs9840812	1.00[CHB][hapmap]

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	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv4023	chr3:135772198-135816635	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3772390	PCCB	cis	lymphoblastoid	seeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135771200-135809600	Weak transcription	Gastric	stomach
2	chr3:135775000-135809600	Weak transcription	Fetal Brain Male	brain
3	chr3:135775000-135809600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:135790200-135830800	Weak transcription	Psoas Muscle	Psoas
5	chr3:135790600-135809600	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:135790800-135807000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:135790800-135809400	Weak transcription	Adipose Nuclei	Adipose
8	chr3:135790800-135809600	Weak transcription	Aorta	Aorta
9	chr3:135790800-135809600	Weak transcription	Brain Angular Gyrus	brain
10	chr3:135790800-135809600	Weak transcription	Brain Anterior Caudate	brain
11	chr3:135790800-135809600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:135790800-135809600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:135794400-135809600	Weak transcription	NH-A	brain
14	chr3:135798200-135809400	Weak transcription	Brain Substantia Nigra	brain
15	chr3:135800400-135808000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:135800400-135815400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr3:135800600-135808400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:135802200-135809000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:135802600-135809800	Weak transcription	Placenta	Placenta
20	chr3:135802800-135807000	Weak transcription	Fetal Kidney	kidney
21	chr3:135803000-135826600	Weak transcription	Liver	Liver
22	chr3:135803200-135809000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:135803200-135809600	Weak transcription	Pancreas	Pancrea
24	chr3:135803200-135809600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:135803400-135848000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr3:135803600-135807200	Strong transcription	Fetal Stomach	stomach
27	chr3:135803600-135809400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:135803600-135809400	Weak transcription	HSMMtube	muscle
29	chr3:135803600-135809600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:135803600-135809600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:135803600-135809600	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:135803600-135809600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:135803600-135809600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:135803600-135821600	Weak transcription	Right Ventricle	heart
35	chr3:135803600-135860600	Weak transcription	Esophagus	oesophagus
36	chr3:135803800-135809200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:135803800-135809200	Weak transcription	Fetal Intestine Large	intestine
38	chr3:135803800-135809400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:135803800-135809400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:135803800-135832400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:135803800-135860000	Weak transcription	NHLF	lung
42	chr3:135804000-135807000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:135804000-135809400	Weak transcription	HSMM	muscle
44	chr3:135804000-135814800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:135804000-135832000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr3:135804000-135833200	Weak transcription	HMEC	breast
47	chr3:135804200-135809800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:135804200-135819400	Weak transcription	Colonic Mucosa	Colon
49	chr3:135804400-135807000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:135804400-135807000	Weak transcription	Lung	lung

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