Variant report

Variant	rs7372313
Chromosome Location	chr3:135872958-135872959
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:135861871..135867047-chr3:135867816..135873226,7	K562	blood:
2	chr3:135865547..135867656-chr3:135871463..135873226,2	K562	blood:
3	chr3:135871355..135873070-chr3:135914710..135916565,2	K562	blood:

Variant related genes	Relation type
ENSG00000174579	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10935177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1153877	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs1154988	1.00[JPT][hapmap]
rs1278493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1279086	0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs1279425	0.86[JPT][hapmap]
rs1279831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1279840	0.86[JPT][hapmap]
rs1711171	0.86[JPT][hapmap]
rs3755636	0.86[JPT][hapmap]
rs3957816	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4678428	0.86[JPT][hapmap]
rs483465	0.86[JPT][hapmap]
rs518972	0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs548288	0.86[JPT][hapmap]
rs553018	0.92[CHB][hapmap]
rs556788	0.85[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs576771	0.81[JPT][hapmap]
rs589092	0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs595532	0.92[CHB][hapmap];1.00[YRI][hapmap]
rs606725	0.86[JPT][hapmap]
rs642075	0.85[EUR][1000 genomes]
rs645040	1.00[JPT][hapmap]
rs650326	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs654237	0.81[JPT][hapmap];1.00[YRI][hapmap]
rs661739	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs667920	0.86[JPT][hapmap]
rs684773	1.00[JPT][hapmap]
rs687339	1.00[JPT][hapmap]
rs695983	0.81[JPT][hapmap]
rs696081	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs696516	0.81[JPT][hapmap]
rs696520	0.85[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs7349597	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs895894	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9810089	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9811753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs9840812	1.00[JPT][hapmap]
rs9845457	0.92[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv877518	chr3:135861666-135885554	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv967232	chr3:135871526-135887926	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7372313	PCCB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135831400-135874800	Weak transcription	Fetal Brain Male	brain
2	chr3:135843800-135873800	Weak transcription	Colonic Mucosa	Colon
3	chr3:135845600-135880400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:135861600-135873000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:135861800-135873000	Weak transcription	Stomach Mucosa	stomach
6	chr3:135862000-135904800	Weak transcription	Hela-S3	cervix
7	chr3:135864200-135882400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:135864400-135882600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:135864400-135885200	Weak transcription	Brain Germinal Matrix	brain
10	chr3:135865600-135882400	Weak transcription	Fetal Heart	heart
11	chr3:135868800-135883000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:135869000-135876400	Weak transcription	HSMMtube	muscle
13	chr3:135869800-135882400	Weak transcription	Brain Angular Gyrus	brain
14	chr3:135870000-135874000	Weak transcription	A549	lung
15	chr3:135870400-135873200	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:135870400-135874400	Weak transcription	Pancreas	Pancrea
17	chr3:135870400-135876000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:135870400-135881000	Weak transcription	Right Atrium	heart
19	chr3:135870800-135873200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:135870800-135895200	Weak transcription	Fetal Intestine Small	intestine
21	chr3:135871000-135873200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:135871000-135873200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:135871000-135873800	Weak transcription	Gastric	stomach
24	chr3:135871000-135874000	Weak transcription	Spleen	Spleen
25	chr3:135871000-135874400	Weak transcription	Lung	lung
26	chr3:135871000-135881800	Weak transcription	Right Ventricle	heart
27	chr3:135871000-135882400	Weak transcription	Esophagus	oesophagus
28	chr3:135871000-135882400	Weak transcription	Small Intestine	intestine
29	chr3:135871000-135897600	Weak transcription	Aorta	Aorta
30	chr3:135871200-135873200	Weak transcription	NHDF-Ad	bronchial
31	chr3:135871200-135873600	Weak transcription	Fetal Brain Female	brain
32	chr3:135871200-135873800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:135871200-135874400	Weak transcription	Left Ventricle	heart
34	chr3:135871200-135874600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:135871200-135876000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:135871200-135882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:135871200-135905000	Weak transcription	Fetal Stomach	stomach
38	chr3:135871400-135873200	Weak transcription	Fetal Intestine Large	intestine
39	chr3:135871400-135873200	Weak transcription	Osteobl	bone
40	chr3:135871400-135873400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:135871400-135873400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:135871400-135874400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:135871400-135875200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:135871400-135880000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:135871400-135880200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr3:135871400-135882200	Weak transcription	HUVEC	blood vessel
47	chr3:135871400-135882400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:135871400-135885000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:135871400-135885000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:135871400-135885600	Weak transcription	Fetal Kidney	kidney

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