Variant report

Variant	rs11995853
Chromosome Location	chr8:68194809-68194810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1138476	0.81[EUR][1000 genomes]
rs11985037	0.81[EUR][1000 genomes]
rs11988175	0.81[EUR][1000 genomes]
rs11990088	0.81[EUR][1000 genomes]
rs11992626	0.81[EUR][1000 genomes]
rs11997189	0.81[EUR][1000 genomes]
rs1466283	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933148	0.81[EUR][1000 genomes]
rs16933178	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17335495	1.00[ASN][1000 genomes]
rs55908039	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55993413	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56070137	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56115408	0.81[EUR][1000 genomes]
rs56902031	0.81[EUR][1000 genomes]
rs57530222	0.81[EUR][1000 genomes]
rs57931195	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58160220	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307420	0.81[EUR][1000 genomes]
rs59061775	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61476700	0.81[EUR][1000 genomes]
rs7004549	0.81[EUR][1000 genomes]
rs7009678	0.81[EUR][1000 genomes]
rs73691187	0.81[EUR][1000 genomes]
rs73691188	0.81[EUR][1000 genomes]
rs73691189	0.81[EUR][1000 genomes]
rs73691190	0.81[EUR][1000 genomes]
rs73691191	0.81[EUR][1000 genomes]
rs73691194	0.81[EUR][1000 genomes]
rs73693106	0.81[EUR][1000 genomes]
rs73693110	0.81[EUR][1000 genomes]
rs73693114	0.81[EUR][1000 genomes]
rs73693117	0.81[EUR][1000 genomes]
rs73693129	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73693136	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693148	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693149	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693150	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693151	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816746	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831052	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:68159000-68221400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:68163200-68198400	Weak transcription	HepG2	liver
6	chr8:68165000-68202400	Weak transcription	Colonic Mucosa	Colon
7	chr8:68166400-68213600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:68172000-68210800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
10	chr8:68174000-68225600	Weak transcription	Esophagus	oesophagus
11	chr8:68174200-68208800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:68174200-68211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:68174400-68199200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:68174600-68199200	Weak transcription	Brain Angular Gyrus	brain
15	chr8:68175000-68219400	Weak transcription	Right Ventricle	heart
16	chr8:68175800-68198200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:68175800-68199200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:68176000-68197000	Weak transcription	Lung	lung
19	chr8:68176000-68219800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:68176600-68197600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:68177200-68199600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:68177400-68197000	Weak transcription	Aorta	Aorta
23	chr8:68177400-68204000	Weak transcription	NHLF	lung
24	chr8:68177800-68198600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:68178000-68199200	Weak transcription	Brain Substantia Nigra	brain
26	chr8:68178200-68197600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:68178400-68196400	Weak transcription	Brain Germinal Matrix	brain
28	chr8:68178400-68197400	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:68178400-68199200	Weak transcription	Fetal Brain Female	brain
30	chr8:68178800-68196400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:68178800-68197000	Weak transcription	Ovary	ovary
32	chr8:68178800-68197000	Weak transcription	Thymus	Thymus
33	chr8:68178800-68197600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:68178800-68198600	Weak transcription	Psoas Muscle	Psoas
35	chr8:68178800-68199000	Weak transcription	Brain Anterior Caudate	brain
36	chr8:68178800-68199200	Weak transcription	A549	lung
37	chr8:68178800-68207000	Weak transcription	Hela-S3	cervix
38	chr8:68179200-68221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:68181000-68196600	Weak transcription	GM12878-XiMat	blood
40	chr8:68181200-68197000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:68181200-68199000	Weak transcription	HSMMtube	muscle
42	chr8:68184000-68199200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:68184200-68196200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:68184200-68196400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:68184400-68197800	Weak transcription	Osteobl	bone
46	chr8:68184400-68199200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:68185200-68201400	Weak transcription	Fetal Intestine Small	intestine
48	chr8:68186400-68213800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:68187200-68214000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr8:68187800-68214200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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