Variant report

Variant	rs9833207
Chromosome Location	chr3:136415217-136415218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10513014	0.92[JPT][hapmap]
rs12630999	0.90[CHB][hapmap];0.87[CHD][hapmap]
rs12635723	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1681817	0.92[JPT][hapmap]
rs28452147	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34992220	0.81[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3856637	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs4456810	0.82[ASN][1000 genomes]
rs4678433	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs4678437	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs4678438	0.89[CHB][hapmap];0.92[CHD][hapmap]
rs61322732	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61508594	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61790842	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6789329	0.92[JPT][hapmap]
rs6794351	0.90[CHB][hapmap];0.87[CHD][hapmap]
rs6808312	0.90[CHB][hapmap]
rs699165	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs833752	0.89[CHB][hapmap]
rs900048	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs9289511	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9812541	0.81[ASN][1000 genomes]
rs9813590	0.92[ASN][1000 genomes]
rs9820485	1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap]
rs9821478	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9845762	1.00[CHB][hapmap];0.92[CHD][hapmap]

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	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1008866	chr3:136364511-136427790	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9833207	PCCB	cis	lymphoblastoid	seeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136390800-136447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:136395000-136418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:136409400-136417800	Weak transcription	Aorta	Aorta
4	chr3:136409400-136422000	Weak transcription	Lung	lung
5	chr3:136411000-136415600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
6	chr3:136411000-136416200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:136411000-136444400	Weak transcription	Fetal Lung	lung
8	chr3:136411400-136416800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:136411400-136417800	Weak transcription	Left Ventricle	heart
10	chr3:136411600-136416400	ZNF genes & repeats	Dnd41	blood
11	chr3:136411600-136419200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:136411600-136427800	Weak transcription	Right Ventricle	heart
13	chr3:136411800-136416400	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr3:136411800-136417000	Weak transcription	Brain Substantia Nigra	brain
15	chr3:136412000-136415400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr3:136412000-136415400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:136412000-136416200	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr3:136412600-136416200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
19	chr3:136413200-136415400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr3:136413200-136416000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:136413200-136420200	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:136413200-136420800	Weak transcription	Right Atrium	heart
23	chr3:136413400-136415400	Weak transcription	Adipose Nuclei	Adipose
24	chr3:136413400-136423400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:136413400-136447200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:136413800-136447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:136414000-136415400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
28	chr3:136414200-136415400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
29	chr3:136414200-136415400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:136414200-136415600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr3:136414400-136415400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr3:136414400-136415400	ZNF genes & repeats	Psoas Muscle	Psoas
33	chr3:136414400-136415400	Enhancers	Stomach Mucosa	stomach
34	chr3:136414400-136415800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
35	chr3:136414600-136415400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:136414600-136415400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:136414800-136415400	ZNF genes & repeats	K562	blood
38	chr3:136414800-136416800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:136414800-136426400	Weak transcription	Fetal Kidney	kidney
40	chr3:136415000-136415400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr3:136415000-136415400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr3:136415000-136415400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr3:136415000-136415400	Enhancers	NHDF-Ad	bronchial
44	chr3:136415000-136417200	Enhancers	Brain Hippocampus Middle	brain
45	chr3:136415000-136420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:136415200-136417400	Weak transcription	A549	lung
47	chr3:136415200-136417800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:136415200-136417800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:136415200-136422600	Weak transcription	Fetal Thymus	thymus
50	chr3:136415200-136426200	Weak transcription	HepG2	liver

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