Variant report

Variant	rs7349597
Chromosome Location	chr3:135911172-135911173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:135909566..135911641-chr3:135968444..135970948,2	MCF-7	breast:
2	chr3:135870333..135872175-chr3:135909037..135911378,2	MCF-7	breast:
3	chr3:135904444..135906124-chr3:135910756..135912454,2	MCF-7	breast:
4	chr3:135876657..135878200-chr3:135910756..135912522,2	K562	blood:
5	chr3:135896850..135898541-chr3:135910028..135912852,2	K562	blood:

Variant related genes	Relation type
ENSG00000114054	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10935177	0.84[EUR][1000 genomes]
rs1278493	0.82[EUR][1000 genomes]
rs1279831	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs642075	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7372313	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9810089	0.80[EUR][1000 genomes]
rs9845457	0.89[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7349597	PCCB	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135903400-135911200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:135906000-135911200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:135907200-135912400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:135907400-135914600	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr3:135907600-135911200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:135907600-135911400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:135907800-135911400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:135907800-135911600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:135908200-135912200	Weak transcription	Gastric	stomach
10	chr3:135908200-135912600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:135908400-135912000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:135908800-135911800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:135909000-135911400	Enhancers	Brain Substantia Nigra	brain
14	chr3:135909000-135911800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:135909000-135912200	Weak transcription	Esophagus	oesophagus
16	chr3:135909200-135911200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:135909200-135911400	Enhancers	Small Intestine	intestine
18	chr3:135909200-135913000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:135909600-135911200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr3:135909600-135911600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:135909800-135911400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:135909800-135912800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr3:135909800-135913200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr3:135910000-135911200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:135910000-135911400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:135910000-135913000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:135910000-135915600	Active TSS	GM12878-XiMat	blood
28	chr3:135910000-135916400	Active TSS	Thymus	Thymus
29	chr3:135910200-135911200	Enhancers	Fetal Heart	heart
30	chr3:135910200-135911200	Enhancers	Placenta	Placenta
31	chr3:135910200-135911400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:135910200-135911400	Enhancers	Fetal Stomach	stomach
33	chr3:135910200-135911600	Enhancers	Fetal Muscle Leg	muscle
34	chr3:135910200-135911600	Enhancers	Pancreas	Pancrea
35	chr3:135910200-135913600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr3:135910200-135913800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:135910200-135916400	Active TSS	Aorta	Aorta
38	chr3:135910400-135911200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr3:135910400-135911200	Enhancers	Osteobl	bone
40	chr3:135910400-135911400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr3:135910400-135911400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr3:135910400-135911800	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr3:135910400-135912000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:135910400-135912200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr3:135910400-135912200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr3:135910400-135912800	Flanking Active TSS	HUVEC	blood vessel
47	chr3:135910400-135913000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr3:135910400-135913000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:135910400-135914000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:135910400-135916200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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