Variant report

Variant	rs1394094
Chromosome Location	chr3:136195788-136195789
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11719310	0.88[ASN][1000 genomes]
rs711977	0.83[ASN][1000 genomes]
rs73226190	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv877520	chr3:136056861-136310985	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv877521	chr3:136069286-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv877522	chr3:136088038-136241028	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv877523	chr3:136088038-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv520012	chr3:136088038-136314119	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv877524	chr3:136112109-136295283	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv877525	chr3:136112109-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv877526	chr3:136149139-136310985	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv877527	chr3:136182053-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1394094	PCCB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136176400-136314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:136176600-136196600	Weak transcription	HUVEC	blood vessel
3	chr3:136176600-136212000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:136176600-136222800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:136176600-136224200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:136176600-136224400	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:136176600-136231800	Weak transcription	Psoas Muscle	Psoas
8	chr3:136176600-136240000	Weak transcription	HMEC	breast
9	chr3:136176600-136260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:136176800-136205800	Weak transcription	Small Intestine	intestine
11	chr3:136176800-136228000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:136176800-136266200	Weak transcription	Hela-S3	cervix
13	chr3:136177200-136236400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:136177400-136198400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:136178000-136212000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:136178400-136208200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:136178600-136220200	Weak transcription	Fetal Brain Male	brain
18	chr3:136179400-136204000	Weak transcription	Fetal Intestine Small	intestine
19	chr3:136179800-136212000	Weak transcription	Fetal Heart	heart
20	chr3:136181200-136205400	Weak transcription	Fetal Kidney	kidney
21	chr3:136181400-136211600	Weak transcription	A549	lung
22	chr3:136181800-136196000	Weak transcription	K562	blood
23	chr3:136182000-136204400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:136183800-136212000	Weak transcription	Lung	lung
25	chr3:136189400-136196600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:136189800-136195800	Strong transcription	Liver	Liver
27	chr3:136189800-136196600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr3:136189800-136196600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:136189800-136197200	Strong transcription	Dnd41	blood
30	chr3:136189800-136197600	Weak transcription	Brain Substantia Nigra	brain
31	chr3:136190400-136195800	Strong transcription	Fetal Thymus	thymus
32	chr3:136190400-136196600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:136190400-136196600	Strong transcription	Primary T cells from cord blood	blood
34	chr3:136190600-136196200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:136190800-136196400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:136191000-136196600	Weak transcription	Gastric	stomach
37	chr3:136191000-136220000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr3:136191400-136209400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:136191400-136268000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:136192000-136196400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:136192000-136204000	Weak transcription	Fetal Stomach	stomach
42	chr3:136192200-136196800	Weak transcription	GM12878-XiMat	blood
43	chr3:136192200-136205400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:136192200-136212600	Weak transcription	Pancreas	Pancrea
45	chr3:136192200-136225600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:136192400-136196800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:136192400-136252400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:136192600-136206000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:136193000-136195800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:136193400-136196000	Strong transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links