Variant report

Variant	rs68002803
Chromosome Location	chr11:46539110-46539111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10838601	0.90[EUR][1000 genomes]
rs11038910	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17787804	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3740973	0.81[EUR][1000 genomes]
rs3802890	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61882719	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7130028	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7484125	0.83[EUR][1000 genomes]
rs7925678	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7949282	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46503400-46563000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:46517200-46550000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:46529800-46542400	Weak transcription	NHLF	lung
4	chr11:46529800-46542600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:46530000-46540600	Weak transcription	Gastric	stomach
6	chr11:46530000-46542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:46530000-46542600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:46530200-46542400	Weak transcription	Hela-S3	cervix
9	chr11:46530200-46544200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:46530200-46550200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:46530200-46550600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:46530400-46541000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:46530400-46541000	Weak transcription	Aorta	Aorta
14	chr11:46530400-46542600	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:46530400-46542600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:46530400-46544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:46530400-46550400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:46530400-46550600	Weak transcription	Spleen	Spleen
19	chr11:46530400-46556000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:46530400-46559000	Weak transcription	Fetal Thymus	thymus
21	chr11:46530400-46561800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:46530600-46550800	Weak transcription	Colonic Mucosa	Colon
23	chr11:46533200-46542600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:46534000-46542600	Weak transcription	Fetal Intestine Small	intestine
25	chr11:46534400-46540000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:46534400-46543400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:46534400-46550400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:46534400-46550600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:46534600-46540000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:46534600-46540600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:46534600-46542600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:46534800-46542600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:46534800-46544600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:46535200-46550600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr11:46535600-46563200	Weak transcription	Small Intestine	intestine
36	chr11:46535800-46542600	Weak transcription	Adipose Nuclei	Adipose
37	chr11:46535800-46542600	Weak transcription	Fetal Intestine Large	intestine
38	chr11:46535800-46549200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:46535800-46550800	Weak transcription	Lung	lung
40	chr11:46535800-46563200	Weak transcription	Pancreas	Pancrea
41	chr11:46536000-46540200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:46536000-46540800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:46536000-46541000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:46536000-46541800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr11:46536000-46542400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:46536000-46542600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:46536000-46542600	Weak transcription	Brain Anterior Caudate	brain
48	chr11:46536000-46542600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:46536000-46542600	Weak transcription	Right Atrium	heart
50	chr11:46536000-46543000	Weak transcription	Fetal Brain Male	brain

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