Variant report

Variant	rs6953749
Chromosome Location	chr7:100000941-100000942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99964487..99968212-chr7:99999516..100003937,5	K562	blood:
2	chr7:99998688..100005691-chr7:100025198..100032529,13	K562	blood:
3	chr7:99999981..100004056-chr7:100025955..100028097,3	MCF-7	breast:
4	chr7:99998986..100001461-chr7:100032501..100034124,2	K562	blood:
5	chr7:99964978..99968212-chr7:99999516..100003937,4	K562	blood:
6	chr7:99999690..100001643-chr7:100005902..100008109,2	K562	blood:
7	chr7:100000444..100003113-chr7:100025108..100027537,3	K562	blood:

Variant related genes	Relation type
ENSG00000078487	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000085514	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000160813	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 44 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1000215	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085549	0.84[ASN][1000 genomes]
rs1063945	0.84[ASN][1000 genomes]
rs1073	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11761253	0.84[ASN][1000 genomes]
rs11761306	0.84[ASN][1000 genomes]
rs11761426	0.84[ASN][1000 genomes]
rs11761725	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11761784	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11763414	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764818	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11765869	0.84[ASN][1000 genomes]
rs11768933	0.84[ASN][1000 genomes]
rs11768967	0.84[ASN][1000 genomes]
rs11769057	0.84[ASN][1000 genomes]
rs11769886	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771241	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771419	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11771799	0.84[ASN][1000 genomes]
rs11771936	0.84[ASN][1000 genomes]
rs1636980	0.84[ASN][1000 genomes]
rs1964242	0.84[ASN][1000 genomes]
rs2003507	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108269	0.84[ASN][1000 genomes]
rs2406255	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28490152	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28495773	0.84[ASN][1000 genomes]
rs28578163	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28629346	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28660238	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680963	0.84[ASN][1000 genomes]
rs3087502	0.84[ASN][1000 genomes]
rs35111986	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35986051	0.84[ASN][1000 genomes]
rs3900792	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074838	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41280971	0.84[ASN][1000 genomes]
rs4989959	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60257855	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61735533	0.84[ASN][1000 genomes]
rs66632384	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67163493	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67196635	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67239991	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67315960	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67471932	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67483801	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68116612	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946768	0.84[ASN][1000 genomes]
rs6948685	0.84[ASN][1000 genomes]
rs6955367	0.84[ASN][1000 genomes]
rs6957928	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962151	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6965207	0.84[ASN][1000 genomes]
rs6965458	0.84[ASN][1000 genomes]
rs6970806	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970828	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6975563	0.84[ASN][1000 genomes]
rs6975660	0.84[ASN][1000 genomes]
rs6975729	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6979910	0.84[ASN][1000 genomes]
rs705866	0.84[ASN][1000 genomes]
rs73161759	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161762	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401443	0.84[ASN][1000 genomes]
rs73401450	0.84[ASN][1000 genomes]
rs73401451	0.84[ASN][1000 genomes]
rs73403312	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7341507	0.84[ASN][1000 genomes]
rs7783159	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783550	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7786844	0.84[ASN][1000 genomes]
rs7792525	0.84[ASN][1000 genomes]
rs7795656	0.84[ASN][1000 genomes]
rs7795805	0.84[ASN][1000 genomes]
rs7799894	0.84[ASN][1000 genomes]
rs7799932	0.84[ASN][1000 genomes]
rs7800667	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7803454	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases

mRNA abundance (count:44)

SNP	Gene	Cis/trans	Tissue	Source
rs6953749	PILRB	cis	lung	GTEx
rs6953749	PILRB	cis	Esophagus Muscularis	GTEx
rs6953749	PILRA	cis	Adipose Subcutaneous	GTEx
rs6953749	PILRA	cis	Thyroid	GTEx
rs6953749	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs6953749	PMS2P1	cis	Thyroid	GTEx
rs6953749	PILRA	cis	Artery Tibial	GTEx
rs6953749	STAG3L5P	cis	Thyroid	GTEx
rs6953749	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs6953749	STAG3L5P	cis	Muscle Skeletal	GTEx
rs6953749	PILRB	cis	Nerve Tibial	GTEx
rs6953749	STAG3L5P	cis	Artery Aorta	GTEx
rs6953749	PVRIG2P	cis	lung	GTEx
rs6953749	PVRIG2P	cis	Thyroid	GTEx
rs6953749	PILRB	cis	Adipose Subcutaneous	GTEx
rs6953749	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs6953749	PILRB	cis	Artery Aorta	GTEx
rs6953749	PILRA	cis	Muscle Skeletal	GTEx
rs6953749	STAG3L5P	cis	lung	GTEx
rs6953749	PVRIG2P	cis	Nerve Tibial	GTEx
rs6953749	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs6953749	PILRA	cis	Esophagus Mucosa	GTEx
rs6953749	STAG3L5P	cis	Stomach	GTEx
rs6953749	PILRB	cis	Esophagus Mucosa	GTEx
rs6953749	PILRB	cis	Thyroid	GTEx
rs6953749	STAG3L5P	cis	Nerve Tibial	GTEx
rs6953749	PILRA	cis	Stomach	GTEx
rs6953749	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs6953749	PILRB	cis	Whole Blood	GTEx
rs6953749	PILRB	cis	Artery Tibial	GTEx
rs6953749	PILRA	cis	Artery Aorta	GTEx
rs6953749	PILRA	cis	Heart Left Ventricle	GTEx
rs6953749	PILRA	cis	Esophagus Muscularis	GTEx
rs6953749	PILRB	cis	Muscle Skeletal	GTEx
rs6953749	STAG3L5P	cis	Artery Tibial	GTEx
rs6953749	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs6953749	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs6953749	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs6953749	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs6953749	PILRA	cis	Nerve Tibial	GTEx
rs6953749	PILRB	cis	Heart Left Ventricle	GTEx
rs6953749	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs6953749	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs6953749	PVRIG2P	cis	Artery Tibial	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
2	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:99987800-100025400	Weak transcription	Right Ventricle	heart
4	chr7:99995000-100025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:99995000-100026000	Weak transcription	Primary T cells from cord blood	blood
6	chr7:99995200-100005000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:99995600-100004400	Weak transcription	GM12878-XiMat	blood
8	chr7:99995600-100004800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:99995800-100005200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:99995800-100005200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:99996000-100006800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:99996200-100001200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:99996200-100007200	Weak transcription	Spleen	Spleen
14	chr7:99996200-100013800	Weak transcription	Fetal Stomach	stomach
15	chr7:99996200-100025400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:99996400-100004800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:99996400-100005000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:99996600-100004800	Weak transcription	Primary B cells from cord blood	blood
19	chr7:99996600-100016800	Weak transcription	Brain Angular Gyrus	brain
20	chr7:99996600-100017000	Weak transcription	Adipose Nuclei	Adipose
21	chr7:99997000-100016000	Weak transcription	Ovary	ovary
22	chr7:99997400-100025600	Weak transcription	Aorta	Aorta
23	chr7:99997800-100005000	Weak transcription	Thymus	Thymus
24	chr7:99998200-100002800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:99998800-100008200	Weak transcription	Lung	lung
26	chr7:99998800-100025400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:99999000-100025400	Weak transcription	Left Ventricle	heart
28	chr7:99999400-100025400	Weak transcription	Psoas Muscle	Psoas
29	chr7:100000200-100002000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:100000200-100003800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:100000200-100004800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:100000200-100013000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:100000200-100016800	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:100000200-100025400	Weak transcription	Liver	Liver
35	chr7:100000400-100002200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:100000400-100004000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:100000800-100001400	Genic enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links