Variant report

Variant	rs6486314
Chromosome Location	chr11:16862363-16862364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11024078	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11024091	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11024092	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12275536	1.00[EUR][1000 genomes]
rs12276960	1.00[EUR][1000 genomes]
rs12278736	1.00[EUR][1000 genomes]
rs12278828	1.00[EUR][1000 genomes]
rs12280548	1.00[EUR][1000 genomes]
rs12292955	1.00[EUR][1000 genomes]
rs16933508	0.92[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933515	0.83[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16933529	0.83[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16933548	0.92[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16933592	1.00[EUR][1000 genomes]
rs16933661	1.00[EUR][1000 genomes]
rs2057788	0.83[YRI][hapmap]
rs2190751	1.00[EUR][1000 genomes]
rs369457	0.83[YRI][hapmap]
rs371905	0.83[YRI][hapmap]
rs390974	0.83[YRI][hapmap]
rs400458	0.83[YRI][hapmap]
rs401820	0.83[YRI][hapmap]
rs402982	0.83[YRI][hapmap]
rs428933	0.83[YRI][hapmap]
rs431208	0.83[YRI][hapmap]
rs433212	0.83[YRI][hapmap]
rs433225	0.83[YRI][hapmap]
rs434761	0.83[YRI][hapmap]
rs440212	0.83[YRI][hapmap]
rs452745	0.83[YRI][hapmap]
rs454869	0.83[YRI][hapmap]
rs4757471	1.00[MEX][hapmap]
rs56721354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56918856	1.00[EUR][1000 genomes]
rs57289260	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57818898	1.00[EUR][1000 genomes]
rs58540437	1.00[EUR][1000 genomes]
rs60553604	1.00[EUR][1000 genomes]
rs60977991	1.00[EUR][1000 genomes]
rs61129651	1.00[EUR][1000 genomes]
rs61217675	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61475718	1.00[EUR][1000 genomes]
rs6486315	0.92[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6486316	1.00[EUR][1000 genomes]
rs7102075	1.00[EUR][1000 genomes]
rs7102357	1.00[EUR][1000 genomes]
rs7103382	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7117859	1.00[EUR][1000 genomes]
rs7119994	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs7122601	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7129494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73423200	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73425209	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73425215	1.00[EUR][1000 genomes]
rs73425221	1.00[EUR][1000 genomes]
rs73425302	1.00[EUR][1000 genomes]
rs73427252	1.00[EUR][1000 genomes]
rs73427255	1.00[EUR][1000 genomes]
rs73427263	1.00[EUR][1000 genomes]
rs7927866	1.00[EUR][1000 genomes]
rs7935333	1.00[EUR][1000 genomes]
rs7944088	1.00[EUR][1000 genomes]
rs7946609	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16813200-16871400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:16823000-16871400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:16839200-16878800	Weak transcription	Thymus	Thymus
4	chr11:16842600-16873400	Weak transcription	Hela-S3	cervix
5	chr11:16843000-16874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:16846600-16874000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:16847000-16864000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:16847000-16871200	Weak transcription	Brain Substantia Nigra	brain
9	chr11:16847200-16871400	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:16847800-16865000	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:16847800-16871600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:16848000-16862400	Weak transcription	Adipose Nuclei	Adipose
13	chr11:16848000-16863000	Weak transcription	Lung	lung
14	chr11:16848200-16862400	Weak transcription	Esophagus	oesophagus
15	chr11:16848200-16863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:16848200-16871400	Weak transcription	Aorta	Aorta
17	chr11:16848200-16875200	Weak transcription	Right Ventricle	heart
18	chr11:16848400-16866600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:16848400-16878600	Weak transcription	Small Intestine	intestine
20	chr11:16848600-16868400	Weak transcription	HSMMtube	muscle
21	chr11:16849800-16865400	Strong transcription	Fetal Intestine Small	intestine
22	chr11:16849800-16871400	Weak transcription	Pancreas	Pancrea
23	chr11:16850400-16871200	Weak transcription	Fetal Brain Female	brain
24	chr11:16850600-16865600	Weak transcription	Psoas Muscle	Psoas
25	chr11:16850600-16871800	Weak transcription	Colonic Mucosa	Colon
26	chr11:16850800-16870600	Weak transcription	Fetal Brain Male	brain
27	chr11:16853400-16883800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:16854000-16868000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:16855000-16863400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:16855200-16862600	Weak transcription	Left Ventricle	heart
31	chr11:16855200-16863600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:16855200-16873000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:16855200-16877600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:16855200-16878800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:16855400-16862600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:16856200-16863200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:16857800-16862600	Weak transcription	Stomach Mucosa	stomach
38	chr11:16858000-16876800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:16858200-16862400	Weak transcription	Brain Anterior Caudate	brain
40	chr11:16858200-16871600	Weak transcription	A549	lung
41	chr11:16858200-16878800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:16858400-16876400	Weak transcription	Brain Germinal Matrix	brain
43	chr11:16858800-16863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:16859200-16868800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:16859800-16863000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:16860000-16870000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:16861000-16864000	Strong transcription	Fetal Intestine Large	intestine
48	chr11:16861200-16863200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:16861200-16863400	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr11:16861200-16864000	Strong transcription	Rectal Mucosa Donor 31	rectum

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