Variant report

Variant	rs7810213
Chromosome Location	chr7:65946579-65946580
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-14	chr7:65946528-65946586	NONHSAT121184
2	lnc-GUSB-14	chr7:65946528-65946586	NONHSAT147568

Extended variants
information (count: 77 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10261710	0.88[EUR][1000 genomes]
rs1065265	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10950035	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10950036	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10950040	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763224	0.91[EUR][1000 genomes]
rs11766183	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11767262	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11769702	0.92[EUR][1000 genomes]
rs11770063	0.92[EUR][1000 genomes]
rs12668269	0.85[EUR][1000 genomes]
rs12668859	0.94[ASN][1000 genomes]
rs12670811	0.86[EUR][1000 genomes]
rs12672427	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12672544	0.88[ASN][1000 genomes]
rs1267814	0.83[EUR][1000 genomes]
rs13311962	0.83[EUR][1000 genomes]
rs1547529	0.91[EUR][1000 genomes]
rs1638724	0.83[EUR][1000 genomes]
rs1638728	0.80[EUR][1000 genomes]
rs1638735	0.80[EUR][1000 genomes]
rs17138156	0.91[EUR][1000 genomes]
rs1796217	0.81[EUR][1000 genomes]
rs1796219	0.80[EUR][1000 genomes]
rs1796226	0.80[EUR][1000 genomes]
rs1796227	0.82[EUR][1000 genomes]
rs1862085	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1909508	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2173571	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2279757	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2420456	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2420612	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2533284	0.80[EUR][1000 genomes]
rs2707851	0.80[EUR][1000 genomes]
rs35459055	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735147	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3936065	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4718335	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718346	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718348	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4718364	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6460298	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6460311	0.80[EUR][1000 genomes]
rs66594357	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6945896	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950988	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6960848	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6961853	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6969224	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6970498	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6979636	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73146609	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73148639	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73148689	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73150604	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73152714	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7783889	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7785117	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7801332	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7811204	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs801199	0.83[EUR][1000 genomes]
rs801210	0.83[EUR][1000 genomes]
rs801212	0.83[EUR][1000 genomes]
rs801213	0.83[EUR][1000 genomes]
rs964971	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1027068	chr7:65901543-65991211	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv981508	chr7:65941357-65958736	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7810213	RNU6-96P	cis	Thyroid	GTEx
rs7810213	GTF2IRD1P1	cis	Thyroid	GTEx
rs7810213	GS1-124K5.11	cis	Thyroid	GTEx
rs7810213	GS1-124K5.4	cis	Stomach	GTEx
rs7810213	RP4-756H11.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
2	chr7:65905600-65957600	Weak transcription	Fetal Lung	lung
3	chr7:65911400-65957800	Weak transcription	Aorta	Aorta
4	chr7:65913000-65946800	Weak transcription	Esophagus	oesophagus
5	chr7:65915800-65954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:65917000-65957800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:65925000-65948400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:65925000-65957200	Weak transcription	Dnd41	blood
9	chr7:65925000-65957600	Weak transcription	Left Ventricle	heart
10	chr7:65925400-65955400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:65925400-65957200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:65927600-65950000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:65927600-65957600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:65931200-65957600	Weak transcription	Right Ventricle	heart
15	chr7:65931400-65957800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:65934600-65955200	Weak transcription	HMEC	breast
17	chr7:65935800-65957600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:65937200-65957200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:65937200-65957200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:65937200-65957600	Weak transcription	HSMMtube	muscle
21	chr7:65937400-65957200	Weak transcription	Right Atrium	heart
22	chr7:65937600-65946800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:65937600-65958000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:65937800-65956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:65937800-65957600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:65937800-65957800	Weak transcription	Fetal Kidney	kidney
27	chr7:65937800-65957800	Weak transcription	Small Intestine	intestine
28	chr7:65938200-65950800	Weak transcription	Fetal Brain Female	brain
29	chr7:65938200-65957600	Weak transcription	HSMM	muscle
30	chr7:65938600-65948400	Weak transcription	Osteobl	bone
31	chr7:65938600-65948600	Strong transcription	Liver	Liver
32	chr7:65938600-65948800	Strong transcription	Fetal Muscle Leg	muscle
33	chr7:65938800-65948600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:65938800-65957600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:65939200-65946600	Strong transcription	Adipose Nuclei	Adipose
36	chr7:65939200-65957600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:65939400-65957600	Weak transcription	Brain Germinal Matrix	brain
38	chr7:65939800-65948200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:65940200-65957200	Weak transcription	Brain Substantia Nigra	brain
40	chr7:65940400-65957600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:65940600-65954800	Weak transcription	HepG2	liver
42	chr7:65940600-65957400	Weak transcription	Pancreas	Pancrea
43	chr7:65940600-65957600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:65940800-65957200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:65940800-65957600	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:65940800-65957600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:65941000-65957200	Weak transcription	Gastric	stomach
48	chr7:65941000-65957400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:65941000-65957600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:65941000-65957600	Weak transcription	Spleen	Spleen

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