Variant report

Variant	rs709282
Chromosome Location	chr7:2769921-2769922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2768235..2770318-chr7:2803626..2805162,2	K562	blood:
2	chr7:2768256..2774537-chr7:2775031..2780281,7	K562	blood:
3	chr7:2726497..2731953-chr7:2769904..2775258,10	MCF-7	breast:
4	chr7:2751778..2761552-chr7:2768388..2775125,13	K562	blood:
5	chr7:2769685..2774579-chr7:2777594..2780364,4	K562	blood:

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11354	0.93[AFR][1000 genomes]
rs1182207	0.84[ASN][1000 genomes]
rs1182208	0.88[ASN][1000 genomes]
rs1182209	0.83[EUR][1000 genomes]
rs12484	0.93[AFR][1000 genomes]
rs13243214	0.86[ASN][1000 genomes]
rs2260230	0.82[ASN][1000 genomes]
rs2283779	0.87[ASN][1000 genomes]
rs2527683	0.82[ASN][1000 genomes]
rs2527684	0.82[ASN][1000 genomes]
rs2644294	0.82[ASN][1000 genomes]
rs35957220	0.87[ASN][1000 genomes]
rs4722006	0.92[AFR][1000 genomes]
rs4722008	0.93[AFR][1000 genomes]
rs6461550	0.93[AFR][1000 genomes]
rs6944607	0.93[AFR][1000 genomes]
rs7777484	0.83[ASN][1000 genomes]
rs7807978	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs798480	0.90[ASN][1000 genomes]
rs798481	0.80[EUR][1000 genomes]
rs798482	0.90[ASN][1000 genomes]
rs798485	0.90[ASN][1000 genomes]
rs798486	0.90[ASN][1000 genomes]
rs798487	0.90[ASN][1000 genomes]
rs798488	0.89[ASN][1000 genomes]
rs798490	0.89[ASN][1000 genomes]
rs798491	0.94[ASN][1000 genomes]
rs798492	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs798493	0.94[ASN][1000 genomes]
rs798494	0.94[ASN][1000 genomes]
rs798495	0.94[ASN][1000 genomes]
rs798496	0.84[ASN][1000 genomes]
rs798497	0.93[ASN][1000 genomes]
rs798498	0.90[ASN][1000 genomes]
rs798499	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs798500	0.95[ASN][1000 genomes]
rs798503	0.85[EUR][1000 genomes]
rs798508	0.96[ASN][1000 genomes]
rs798511	0.96[ASN][1000 genomes]
rs798512	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs798513	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs798514	0.95[ASN][1000 genomes]
rs798518	0.89[ASN][1000 genomes]
rs798526	0.93[ASN][1000 genomes]
rs798528	0.97[ASN][1000 genomes]
rs798531	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs798536	0.95[ASN][1000 genomes]
rs798540	0.92[ASN][1000 genomes]
rs798544	0.87[ASN][1000 genomes]
rs798545	0.87[ASN][1000 genomes]
rs798546	0.87[ASN][1000 genomes]
rs798547	0.89[ASN][1000 genomes]
rs798548	0.86[ASN][1000 genomes]
rs798550	0.89[ASN][1000 genomes]
rs798551	0.89[ASN][1000 genomes]
rs798552	0.89[ASN][1000 genomes]
rs798554	0.89[ASN][1000 genomes]
rs798555	0.93[ASN][1000 genomes]
rs798556	0.89[ASN][1000 genomes]
rs798557	0.93[ASN][1000 genomes]
rs798558	0.89[ASN][1000 genomes]
rs798559	0.90[ASN][1000 genomes]
rs798560	0.90[ASN][1000 genomes]
rs798562	0.92[ASN][1000 genomes]
rs798565	0.81[ASN][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	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017611	chr7:2750418-2781716	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv538654	chr7:2750418-2781716	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs709282	GNA12	cis	Nerve Tibial	GTEx
rs709282	GNA12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2749400-2770600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:2749800-2770800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:2752400-2796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:2754800-2774200	Weak transcription	Fetal Brain Male	brain
5	chr7:2755800-2770600	Weak transcription	Fetal Kidney	kidney
6	chr7:2756000-2777800	Weak transcription	Psoas Muscle	Psoas
7	chr7:2756200-2770600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:2757200-2770600	Weak transcription	Esophagus	oesophagus
9	chr7:2757600-2772800	Weak transcription	Small Intestine	intestine
10	chr7:2758600-2771600	Weak transcription	K562	blood
11	chr7:2759200-2774000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:2759400-2771600	Strong transcription	Pancreas	Pancrea
13	chr7:2760800-2770200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:2761000-2773000	Weak transcription	A549	lung
15	chr7:2761000-2774200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:2761000-2774200	Weak transcription	GM12878-XiMat	blood
17	chr7:2761000-2774800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:2761000-2796200	Weak transcription	Hela-S3	cervix
19	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:2761400-2772800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:2762600-2772800	Strong transcription	Fetal Intestine Large	intestine
22	chr7:2762800-2771200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:2762800-2771400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:2764600-2771600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:2764600-2774400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:2764800-2771400	Strong transcription	Primary B cells from cord blood	blood
27	chr7:2764800-2772600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr7:2765200-2771400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:2766400-2770200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:2766600-2770000	Weak transcription	HMEC	breast
31	chr7:2766600-2770600	Weak transcription	Colonic Mucosa	Colon
32	chr7:2766600-2770800	Weak transcription	Aorta	Aorta
33	chr7:2766600-2773400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:2766800-2770000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:2767200-2770400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:2767200-2770600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:2767200-2770600	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:2767200-2773000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:2767800-2771000	Genic enhancers	Fetal Muscle Leg	muscle
40	chr7:2767800-2773000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr7:2768000-2772200	Weak transcription	HUVEC	blood vessel
42	chr7:2768000-2772600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:2768200-2770400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:2768200-2770400	Enhancers	Fetal Lung	lung
45	chr7:2768400-2770000	Genic enhancers	NHLF	lung
46	chr7:2768400-2770200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr7:2768400-2770600	Genic enhancers	Placenta	Placenta
48	chr7:2768400-2770800	Genic enhancers	Fetal Stomach	stomach
49	chr7:2768400-2771200	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr7:2768400-2771400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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