Variant report

Variant	rs2513523
Chromosome Location	chr11:76239150-76239151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10793169	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10793171	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10899222	0.82[EUR][1000 genomes]
rs10899225	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10899227	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2508740	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2508741	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2508753	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2508759	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2508760	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2508761	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508762	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2513504	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2513505	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2513508	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513513	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513520	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2513525	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3814711	0.81[EUR][1000 genomes]
rs4245443	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4272809	0.82[AFR][1000 genomes]
rs4300410	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4945090	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5023625	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55977477	0.83[EUR][1000 genomes]
rs7106564	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7107058	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7926009	0.80[AFR][1000 genomes]
rs8848	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76192800-76242800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:76205200-76254400	Weak transcription	Aorta	Aorta
3	chr11:76205400-76240000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:76205400-76254600	Weak transcription	Right Ventricle	heart
5	chr11:76205400-76255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:76205600-76239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:76206000-76249200	Weak transcription	Colonic Mucosa	Colon
8	chr11:76207400-76239400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:76207400-76240000	Weak transcription	Brain Substantia Nigra	brain
10	chr11:76207400-76254400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:76207600-76239400	Weak transcription	Brain Angular Gyrus	brain
12	chr11:76213000-76254200	Weak transcription	Fetal Heart	heart
13	chr11:76220000-76255600	Weak transcription	Small Intestine	intestine
14	chr11:76222200-76252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:76222600-76249200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:76224200-76254600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:76224400-76262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:76224400-76263800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:76224800-76251200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:76225400-76253200	Weak transcription	HSMMtube	muscle
21	chr11:76229000-76239800	Weak transcription	HUVEC	blood vessel
22	chr11:76230000-76265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:76232400-76239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:76232800-76245000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:76233000-76249200	Weak transcription	Fetal Stomach	stomach
26	chr11:76233600-76251000	Strong transcription	Primary B cells from cord blood	blood
27	chr11:76233600-76258800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:76233800-76258600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:76233800-76260200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:76233800-76262000	Strong transcription	Placenta	Placenta
31	chr11:76233800-76262400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:76233800-76262600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:76233800-76263200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:76234000-76245200	Strong transcription	Fetal Thymus	thymus
35	chr11:76234000-76245400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:76234000-76262600	Strong transcription	Dnd41	blood
37	chr11:76234200-76240800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:76234200-76250800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:76234200-76251200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:76234200-76262000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:76234400-76243400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:76234600-76246400	Weak transcription	Fetal Brain Male	brain
43	chr11:76234800-76263000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:76235000-76239200	Weak transcription	Brain Anterior Caudate	brain
45	chr11:76235800-76239800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:76235800-76243200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:76236000-76239800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:76236000-76240000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:76236000-76247400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:76236000-76254400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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