Variant report

Variant	rs2270172
Chromosome Location	chr6:30592414-30592415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30591945..30594693-chr6:30703860..30706448,2	K562	blood:
2	chr6:30590937..30593693-chr6:30609375..30612097,3	MCF-7	breast:
3	chr6:30591157..30598732-chr6:30607879..30619621,21	K562	blood:
4	chr6:30591212..30593070-chr6:30654057..30656652,2	MCF-7	breast:
5	chr6:30590782..30598373-chr6:30685661..30690473,13	MCF-7	breast:
6	chr6:30591444..30595401-chr6:30685466..30689259,5	K562	blood:

Variant related genes	Relation type
ENSG00000201988	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000204564	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16867845	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17189120	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17189134	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17189155	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17195474	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17195488	0.86[AFR][1000 genomes]
rs17195516	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17195544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2106069	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2239514	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2239515	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2239516	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2267638	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2267640	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2302347	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2394387	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs59272830	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs59607822	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs59913575	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6457246	0.82[EUR][1000 genomes]
rs6457247	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6457248	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6457249	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6899769	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6901251	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6911174	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6917434	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6917935	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6927727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6934466	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7742291	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7742650	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7742754	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7749109	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7749807	0.82[AFR][1000 genomes]
rs7749978	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7767002	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9671	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2270172	ADORA2A	trans	brain	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30586400-30592600	Weak transcription	Aorta	Aorta
2	chr6:30586400-30594200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30586400-30594600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:30586600-30594400	Weak transcription	Right Atrium	heart
5	chr6:30586600-30594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:30586800-30594400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:30587000-30593600	Strong transcription	Fetal Muscle Leg	muscle
8	chr6:30587000-30594000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:30587000-30594000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:30587000-30594000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:30587000-30594000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr6:30587000-30594000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:30587000-30594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:30587000-30594200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:30587000-30594200	Strong transcription	Osteobl	bone
16	chr6:30587000-30594400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:30587200-30593400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:30587200-30593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:30587200-30593800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr6:30587200-30593800	Strong transcription	HSMMtube	muscle
21	chr6:30587200-30594000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:30587200-30594000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr6:30587200-30594000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:30587200-30594000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:30587200-30594000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:30587200-30594000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:30587200-30594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:30587200-30594000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:30587200-30594000	Strong transcription	Brain Angular Gyrus	brain
30	chr6:30587200-30594000	Strong transcription	Brain Anterior Caudate	brain
31	chr6:30587200-30594000	Strong transcription	Brain Cingulate Gyrus	brain
32	chr6:30587200-30594000	Strong transcription	Brain Hippocampus Middle	brain
33	chr6:30587200-30594000	Strong transcription	Brain Substantia Nigra	brain
34	chr6:30587200-30594000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:30587200-30594000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr6:30587200-30594000	Strong transcription	Placenta	Placenta
37	chr6:30587200-30594000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr6:30587200-30594000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:30587200-30594200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:30587200-30594200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:30587200-30594200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:30587400-30593400	Strong transcription	K562	blood
43	chr6:30587400-30593600	Strong transcription	Fetal Intestine Small	intestine
44	chr6:30587400-30593600	Strong transcription	A549	lung
45	chr6:30587400-30593800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:30587400-30593800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr6:30587400-30593800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:30587400-30593800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:30587400-30593800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:30587400-30594000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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