Variant report

Variant	rs11168191
Chromosome Location	chr12:48053377-48053378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48051468..48053610-chr12:48056133..48058641,2	K562	blood:
2	chr12:48044022..48046311-chr12:48051570..48054955,3	K562	blood:

Variant related genes	Relation type
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10783212	0.97[ASN][1000 genomes]
rs10875666	0.81[EUR][1000 genomes]
rs10875677	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875682	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875685	0.80[ASN][1000 genomes]
rs10875686	0.83[ASN][1000 genomes]
rs10875687	0.81[ASN][1000 genomes]
rs10875688	0.81[ASN][1000 genomes]
rs11168192	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168193	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168199	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168200	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168203	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168208	0.87[ASN][1000 genomes]
rs11168214	0.81[ASN][1000 genomes]
rs11168215	0.81[ASN][1000 genomes]
rs11168216	0.81[ASN][1000 genomes]
rs12366410	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367193	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12370643	0.94[ASN][1000 genomes]
rs1541384	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2072117	0.81[ASN][1000 genomes]
rs2240079	0.81[ASN][1000 genomes]
rs2240080	0.81[ASN][1000 genomes]
rs2283346	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3764013	0.86[ASN][1000 genomes]
rs56011001	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56240307	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs582680	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs583752	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs602143	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs604662	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs605499	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs611627	0.81[EUR][1000 genomes]
rs612773	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61917590	0.92[ASN][1000 genomes]
rs61917591	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61917594	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61917595	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61917616	0.81[ASN][1000 genomes]
rs61917617	0.81[ASN][1000 genomes]
rs622098	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs623894	0.87[EUR][1000 genomes]
rs630777	0.93[ASN][1000 genomes]
rs632944	0.93[ASN][1000 genomes]
rs634833	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs642453	0.84[EUR][1000 genomes]
rs644531	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs646223	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs652380	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs653136	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6580634	0.96[ASN][1000 genomes]
rs658567	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs659836	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs668968	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs671961	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs679789	0.81[EUR][1000 genomes]
rs687676	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7136143	0.81[EUR][1000 genomes]
rs7136561	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7137529	0.94[ASN][1000 genomes]
rs7311663	1.00[ASN][1000 genomes]
rs7316761	0.85[EUR][1000 genomes]
rs739858	0.81[EUR][1000 genomes]
rs7484827	0.81[ASN][1000 genomes]
rs7954502	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968783	0.81[EUR][1000 genomes]
rs7969186	0.88[ASN][1000 genomes]
rs7976748	0.87[ASN][1000 genomes]
rs7977613	1.00[ASN][1000 genomes]
rs7977786	0.87[EUR][1000 genomes]
rs864112	0.85[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	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv695	chr12:48043261-48088221	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv975649	chr12:48047382-48053390	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv518487	chr12:48051456-48057791	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11168191	ENDOU	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
4	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
6	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:48036600-48055400	Weak transcription	Ovary	ovary
8	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
9	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
11	chr12:48042200-48058400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:48042400-48060200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:48042600-48054800	Weak transcription	Placenta	Placenta
14	chr12:48043200-48054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:48043400-48080000	Weak transcription	NHEK	skin
16	chr12:48043800-48053600	Weak transcription	Left Ventricle	heart
17	chr12:48043800-48055600	Weak transcription	Right Ventricle	heart
18	chr12:48045000-48055200	Weak transcription	NH-A	brain
19	chr12:48045200-48059600	Weak transcription	HMEC	breast
20	chr12:48045200-48060200	Weak transcription	Spleen	Spleen
21	chr12:48045200-48079200	Weak transcription	NHLF	lung
22	chr12:48045400-48053800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:48045400-48055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:48045600-48054600	Weak transcription	Osteobl	bone
25	chr12:48045600-48055800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:48045600-48055800	Weak transcription	Hela-S3	cervix
27	chr12:48045600-48056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:48045600-48062200	Weak transcription	Stomach Mucosa	stomach
29	chr12:48045800-48058200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:48045800-48058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:48046000-48055400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:48046000-48058400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:48046200-48053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:48046200-48055000	Weak transcription	Brain Anterior Caudate	brain
35	chr12:48046200-48055000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:48046200-48055200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:48046200-48068000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:48046400-48061200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:48046600-48053600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:48046600-48054800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:48046600-48055200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:48046600-48055200	Weak transcription	Adipose Nuclei	Adipose
43	chr12:48046600-48055200	Weak transcription	Fetal Brain Female	brain
44	chr12:48046600-48055400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:48046600-48057800	Weak transcription	Fetal Intestine Small	intestine
46	chr12:48046600-48058200	Weak transcription	Brain Substantia Nigra	brain
47	chr12:48046600-48058400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:48046600-48060000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:48046600-48060000	Weak transcription	Fetal Kidney	kidney
50	chr12:48046600-48083000	Weak transcription	Rectal Smooth Muscle	rectum

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