Variant report

Variant	rs2054071
Chromosome Location	chr2:234331562-234331563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234327625..234329207-chr2:234329605..234332542,2	MCF-7	breast:
2	chr2:234164721..234166387-chr2:234329039..234331585,2	K562	blood:
3	chr2:234320676..234323507-chr2:234330970..234332948,2	MCF-7	breast:
4	chr2:234330775..234332470-chr2:234335066..234337400,2	K562	blood:
5	chr2:234329436..234331641-chr2:234351887..234353732,2	MCF-7	breast:
6	chr2:234331362..234333513-chr2:234338098..234340435,2	MCF-7	breast:
7	chr2:234329612..234332276-chr2:234340900..234342662,2	K562	blood:
8	chr2:234329686..234332891-chr2:234335011..234337896,4	MCF-7	breast:
9	chr2:234330110..234332906-chr2:234472869..234475585,2	MCF-7	breast:
10	chr2:234331430..234332983-chr2:234364187..234366642,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction
ENSG00000085982	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2924815	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2971868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3762592	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55865137	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6706384	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6723558	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs838730	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs838731	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs838732	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs838733	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs838734	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs838735	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2054071	DGKD	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:234323800-234334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234324400-234335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:234326400-234331600	Enhancers	Fetal Thymus	thymus
7	chr2:234326800-234331800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr2:234327600-234331800	Active TSS	Psoas Muscle	Psoas
9	chr2:234328200-234332200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:234328200-234333200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:234328200-234334200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:234328200-234335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:234328400-234332600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:234328600-234331800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:234328600-234332800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:234328800-234337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:234328800-234343000	Weak transcription	Liver	Liver
18	chr2:234329000-234332000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:234329000-234334800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
22	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
23	chr2:234329200-234331600	Weak transcription	NHLF	lung
24	chr2:234329200-234332600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:234329200-234335000	Weak transcription	Aorta	Aorta
26	chr2:234329200-234335000	Weak transcription	Osteobl	bone
27	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
28	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:234329400-234333000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:234329600-234331600	Enhancers	Adipose Nuclei	Adipose
35	chr2:234329600-234335000	Weak transcription	HUVEC	blood vessel
36	chr2:234330000-234332000	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr2:234330000-234332200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:234330000-234333000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:234330000-234333000	Enhancers	Stomach Mucosa	stomach
40	chr2:234330000-234333600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr2:234330000-234333800	Enhancers	Fetal Intestine Large	intestine
42	chr2:234330200-234331600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:234330200-234331800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:234330200-234334000	Enhancers	Fetal Heart	heart
45	chr2:234330400-234332200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:234330400-234332400	Enhancers	Fetal Intestine Small	intestine
47	chr2:234330400-234333400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:234330400-234333600	Enhancers	Left Ventricle	heart
49	chr2:234330600-234332000	Enhancers	K562	blood
50	chr2:234330600-234332200	Enhancers	Pancreas	Pancrea

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