Variant report

Variant	rs798496
Chromosome Location	chr7:2796763-2796764
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2770824..2773530-chr7:2796217..2798133,2	K562	blood:
2	chr7:2791509..2794960-chr7:2795693..2799845,4	MCF-7	breast:
3	chr7:2788053..2792290-chr7:2793052..2798708,8	K562	blood:
4	chr7:2795602..2798449-chr7:2895895..2897670,2	MCF-7	breast:
5	chr7:2790104..2792525-chr7:2796033..2798907,2	K562	blood:
6	chr7:2796622..2799533-chr7:2800643..2803648,3	K562	blood:
7	chr7:2795268..2798027-chr7:2834691..2837534,2	MCF-7	breast:
8	chr7:2796001..2798506-chr7:2858838..2860975,2	MCF-7	breast:
9	chr7:2795883..2797584-chr7:2821948..2824040,2	K562	blood:
10	chr7:2755108..2759929-chr7:2796424..2799629,5	K562	blood:
11	chr7:2726208..2729496-chr7:2795829..2800431,6	MCF-7	breast:
12	chr7:2795941..2797705-chr7:2869093..2871326,2	K562	blood:
13	chr7:2725821..2728860-chr7:2795958..2798636,3	MCF-7	breast:
14	chr7:2796509..2799619-chr7:2800643..2805239,7	K562	blood:
15	chr7:2755108..2758694-chr7:2796336..2799311,5	K562	blood:
16	chr7:2796044..2799256-chr7:2882341..2885825,4	K562	blood:
17	chr7:2559472..2562107-chr7:2794956..2796961,2	MCF-7	breast:
18	chr7:2793193..2795230-chr7:2796231..2799768,5	K562	blood:
19	chr7:2795660..2798637-chr7:2882064..2885301,4	MCF-7	breast:
20	chr20:60639339..60641070-chr7:2796081..2797652,2	MCF-7	breast:
21	chr7:2796032..2797990-chr7:2809805..2811746,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265306	Chromatin interaction
ENSG00000106003	Chromatin interaction
ENSG00000130699	Chromatin interaction
ENSG00000174945	Chromatin interaction
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1182207	0.84[EUR][1000 genomes]
rs1182208	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13243214	0.85[EUR][1000 genomes]
rs2260230	0.82[EUR][1000 genomes]
rs2283779	0.81[ASN][1000 genomes]
rs2533884	0.82[EUR][1000 genomes]
rs2644294	0.81[EUR][1000 genomes]
rs2644312	0.81[EUR][1000 genomes]
rs35957220	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs709282	0.84[ASN][1000 genomes]
rs7777484	0.83[ASN][1000 genomes]
rs7807978	0.83[ASN][1000 genomes]
rs798480	0.83[ASN][1000 genomes]
rs798482	0.83[ASN][1000 genomes]
rs798485	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs798486	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs798487	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs798488	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs798489	0.80[EUR][1000 genomes]
rs798490	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs798491	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs798492	0.92[ASN][1000 genomes]
rs798493	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs798494	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs798495	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs798497	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs798498	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs798499	0.88[ASN][1000 genomes]
rs798500	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs798502	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs798508	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs798511	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs798512	0.90[ASN][1000 genomes]
rs798513	0.90[ASN][1000 genomes]
rs798514	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs798518	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs798526	0.87[ASN][1000 genomes]
rs798528	0.85[ASN][1000 genomes]
rs798531	0.84[ASN][1000 genomes]
rs798547	0.83[ASN][1000 genomes]
rs798550	0.83[ASN][1000 genomes]
rs798551	0.83[ASN][1000 genomes]
rs798552	0.83[ASN][1000 genomes]
rs798554	0.83[ASN][1000 genomes]
rs798555	0.81[ASN][1000 genomes]
rs798556	0.83[ASN][1000 genomes]
rs798557	0.81[ASN][1000 genomes]
rs798558	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
6	nsv966746	chr7:2781545-2797621	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1032282	chr7:2789555-2820774	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs798496	GNA12	Cis_1M	lymphoblastoid	RTeQTL
rs798496	GNA12	cis	Artery Tibial	GTEx
rs798496	GNA12	cis	Nerve Tibial	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:2773200-2797000	Weak transcription	Pancreas	Pancrea
3	chr7:2775400-2797400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:2775400-2801200	Weak transcription	Primary T cells from cord blood	blood
5	chr7:2776200-2797000	Weak transcription	Spleen	Spleen
6	chr7:2782800-2797000	Weak transcription	Right Ventricle	heart
7	chr7:2782800-2797200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:2783000-2798000	Weak transcription	Lung	lung
9	chr7:2783600-2796800	Weak transcription	Fetal Intestine Large	intestine
10	chr7:2783800-2797200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:2788400-2797400	Weak transcription	Thymus	Thymus
12	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:2790000-2797000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:2790000-2797200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
16	chr7:2790400-2799800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:2790800-2797000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:2791200-2796800	Weak transcription	Adipose Nuclei	Adipose
19	chr7:2791200-2803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:2791400-2797200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:2791400-2797200	Weak transcription	Fetal Kidney	kidney
22	chr7:2791400-2800200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:2791600-2797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:2792200-2799400	Weak transcription	Gastric	stomach
25	chr7:2792400-2796800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:2793400-2799200	Weak transcription	Fetal Brain Male	brain
27	chr7:2793800-2797000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:2794000-2797000	Weak transcription	Brain Angular Gyrus	brain
29	chr7:2794000-2797000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:2794200-2797000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:2794400-2797000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:2794800-2799000	Weak transcription	Fetal Brain Female	brain
33	chr7:2795000-2797200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:2795000-2797200	Weak transcription	Small Intestine	intestine
35	chr7:2795400-2797000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:2795400-2799400	Weak transcription	Liver	Liver
37	chr7:2795600-2797600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr7:2795800-2797400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:2796000-2796800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:2796000-2797000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:2796000-2797000	Strong transcription	Fetal Intestine Small	intestine
42	chr7:2796000-2797000	Enhancers	A549	lung
43	chr7:2796000-2797400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:2796200-2796800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:2796200-2796800	Strong transcription	Primary B cells from cord blood	blood
46	chr7:2796200-2796800	Strong transcription	HepG2	liver
47	chr7:2796200-2796800	Genic enhancers	HSMMtube	muscle
48	chr7:2796200-2796800	Enhancers	NHEK	skin
49	chr7:2796200-2797000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:2796200-2797000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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