Variant report

Variant	rs295324
Chromosome Location	chr3:141328918-141328919
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141321841..141324278-chr3:141328067..141329902,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1493210	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16851483	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035935	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035936	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2312193	0.88[ASN][1000 genomes]
rs2639997	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2640017	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs295299	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs295300	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs295321	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34558081	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3732869	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3806648	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821709	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4683610	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4683612	0.90[ASN][1000 genomes]
rs58025624	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60654199	0.84[ASN][1000 genomes]
rs73871847	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7627774	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7627807	0.81[EUR][1000 genomes];0.94[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	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
rs295324	ZBTB38	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141265200-141336200	Weak transcription	Psoas Muscle	Psoas
2	chr3:141276400-141329400	Weak transcription	Small Intestine	intestine
3	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:141281800-141329400	Weak transcription	Fetal Brain Male	brain
5	chr3:141305200-141329000	Weak transcription	NHLF	lung
6	chr3:141313200-141344000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:141319400-141329400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:141319600-141329000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:141319600-141329600	Weak transcription	HSMMtube	muscle
10	chr3:141320200-141329000	Weak transcription	Pancreas	Pancrea
11	chr3:141320200-141329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:141320400-141331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:141320400-141333600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:141320400-141337200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:141321400-141329000	Weak transcription	Esophagus	oesophagus
16	chr3:141321400-141329800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:141321600-141331800	Weak transcription	Brain Substantia Nigra	brain
18	chr3:141321800-141329000	Weak transcription	Fetal Stomach	stomach
19	chr3:141321800-141329600	Weak transcription	A549	lung
20	chr3:141321800-141342600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:141322200-141329000	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:141324000-141333800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:141324200-141333600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr3:141324200-141336000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:141324600-141329400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:141324600-141332000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:141324800-141330000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:141324800-141332200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr3:141324800-141334000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:141325000-141329400	Weak transcription	Aorta	Aorta
31	chr3:141325000-141329400	Weak transcription	Gastric	stomach
32	chr3:141325000-141330000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:141325000-141332200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:141325000-141338000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:141325200-141329200	Weak transcription	Brain Germinal Matrix	brain
36	chr3:141325200-141329400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:141325600-141333600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr3:141325600-141335000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:141325800-141333600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:141326000-141332400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:141326000-141333000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:141326200-141332600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:141326400-141332400	Strong transcription	HSMM	muscle
44	chr3:141326600-141334000	Strong transcription	Dnd41	blood
45	chr3:141326600-141334200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:141326600-141335400	Strong transcription	HUVEC	blood vessel
47	chr3:141326800-141329600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:141326800-141329800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:141326800-141330200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:141326800-141330400	Strong transcription	HMEC	breast

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