Variant report

Variant	rs295300
Chromosome Location	chr3:141338415-141338416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141337365..141343869-chr3:141344227..141348794,9	K562	blood:
2	chr3:141336924..141339116-chr3:141456806..141458556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114125	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11711375	0.81[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap]
rs11917587	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1493209	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1493210	0.82[EUR][1000 genomes]
rs16851438	0.83[JPT][hapmap]
rs16851441	1.00[JPT][hapmap]
rs16851483	0.84[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs1863867	0.88[JPT][hapmap]
rs2035935	0.84[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2035936	0.86[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs2312193	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2639997	0.84[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2640017	0.88[CEU][hapmap];0.84[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295299	0.88[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295320	0.81[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap]
rs295321	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs295323	0.81[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap]
rs295324	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3732869	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs3806646	0.88[JPT][hapmap]
rs3821709	0.84[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs3821710	0.92[CHD][hapmap];0.88[JPT][hapmap]
rs3821712	0.89[CHD][hapmap];0.88[JPT][hapmap]
rs4683404	0.88[JPT][hapmap]
rs4683610	0.84[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap]
rs58025624	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6767158	0.81[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap]
rs6785874	0.81[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap]
rs6795168	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs6800122	0.81[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap]
rs6808837	0.81[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap]
rs73871847	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7626871	0.88[JPT][hapmap]
rs7627807	0.84[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap]
rs7643837	0.81[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap]
rs9878347	0.83[JPT][hapmap]
rs9879503	0.83[JPT][hapmap]

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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs295300	ZBTB38	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:141313200-141344000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:141321800-141342600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:141330000-141338800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:141330400-141342000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:141330400-141342000	Weak transcription	Pancreas	Pancrea
7	chr3:141330400-141343200	Weak transcription	Brain Angular Gyrus	brain
8	chr3:141330400-141344000	Weak transcription	HMEC	breast
9	chr3:141330400-141344600	Weak transcription	NHLF	lung
10	chr3:141330600-141339000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:141330600-141339200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:141330600-141344200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:141330600-141344200	Weak transcription	Ovary	ovary
14	chr3:141330800-141344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:141331600-141338800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:141331800-141338600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:141332000-141344600	Weak transcription	NHDF-Ad	bronchial
18	chr3:141332200-141339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:141332400-141339200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:141332400-141340600	Weak transcription	A549	lung
21	chr3:141332400-141344200	Weak transcription	HSMM	muscle
22	chr3:141332400-141344400	Weak transcription	Osteobl	bone
23	chr3:141332400-141345800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:141333600-141344200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:141334000-141339000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:141335200-141344200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:141335200-141344200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:141335400-141338600	Weak transcription	Dnd41	blood
29	chr3:141335600-141341600	Weak transcription	NH-A	brain
30	chr3:141335800-141339200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:141336000-141338800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr3:141336000-141339600	Enhancers	Fetal Intestine Large	intestine
33	chr3:141336000-141344200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:141336200-141340600	Weak transcription	Fetal Stomach	stomach
35	chr3:141336200-141343800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:141336400-141339600	Enhancers	Fetal Intestine Small	intestine
37	chr3:141337000-141338600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:141337200-141339000	Weak transcription	Primary B cells from cord blood	blood
39	chr3:141337200-141339600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:141337400-141340400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:141338000-141338600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr3:141338000-141338600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:141338000-141339800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:141338200-141338600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:141338200-141338600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:141338200-141338600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:141338400-141338600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:141338400-141338600	Enhancers	Adipose Nuclei	Adipose
49	chr3:141338400-141340200	Weak transcription	Primary T cells from cord blood	blood
50	chr3:141338400-141343800	Weak transcription	H1 Cell Line	embryonic stem cell

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