Variant report

Variant	rs2513515
Chromosome Location	chr11:76219950-76219951
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1044265	0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10793164	0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10793166	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10793167	0.92[YRI][hapmap]
rs10793169	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs10899219	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899220	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899225	0.88[AFR][1000 genomes]
rs11236749	0.84[AFR][1000 genomes]
rs11236761	0.89[ASN][1000 genomes]
rs11606394	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2155220	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2251075	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508738	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508755	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2508756	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2508760	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs2513505	0.84[AFR][1000 genomes]
rs2513508	0.83[YRI][hapmap]
rs2513511	0.85[ASN][1000 genomes]
rs2513514	0.85[ASN][1000 genomes]
rs2513520	0.89[AFR][1000 genomes]
rs2513525	0.87[YRI][hapmap]
rs3016373	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272809	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs4300410	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs4625500	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4945087	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4945090	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs5023625	0.88[AFR][1000 genomes]
rs7107058	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs7109548	0.80[AFR][1000 genomes]
rs7926009	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs7928101	0.91[ASN][1000 genomes]
rs7940390	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3383733	chr11:76186353-76225544	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76168800-76234800	Weak transcription	Psoas Muscle	Psoas
2	chr11:76171200-76221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:76184400-76235000	Weak transcription	NHEK	skin
4	chr11:76189000-76231400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:76189400-76223000	Weak transcription	HUVEC	blood vessel
6	chr11:76190800-76234200	Weak transcription	Left Ventricle	heart
7	chr11:76191400-76221200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:76191400-76239000	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:76191600-76231600	Weak transcription	NHDF-Ad	bronchial
10	chr11:76192800-76221200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:76192800-76242800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:76204000-76221200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:76205200-76234200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:76205200-76235800	Weak transcription	NHLF	lung
15	chr11:76205200-76254400	Weak transcription	Aorta	Aorta
16	chr11:76205400-76221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:76205400-76227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:76205400-76235800	Weak transcription	Lung	lung
19	chr11:76205400-76240000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:76205400-76254600	Weak transcription	Right Ventricle	heart
21	chr11:76205400-76255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:76205600-76221200	Weak transcription	Pancreas	Pancrea
23	chr11:76205600-76239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:76205800-76221200	Weak transcription	Ovary	ovary
25	chr11:76205800-76235800	Weak transcription	Esophagus	oesophagus
26	chr11:76206000-76249200	Weak transcription	Colonic Mucosa	Colon
27	chr11:76207400-76221400	Weak transcription	Gastric	stomach
28	chr11:76207400-76239400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:76207400-76240000	Weak transcription	Brain Substantia Nigra	brain
30	chr11:76207400-76254400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:76207600-76239400	Weak transcription	Brain Angular Gyrus	brain
32	chr11:76207800-76221400	Weak transcription	Osteobl	bone
33	chr11:76208000-76234200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:76208000-76234200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:76208000-76235200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:76208200-76234200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:76208400-76234200	Weak transcription	Brain Anterior Caudate	brain
38	chr11:76211200-76232400	Weak transcription	Fetal Stomach	stomach
39	chr11:76212000-76234200	Weak transcription	Thymus	Thymus
40	chr11:76212000-76234400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:76212000-76235200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:76212000-76235400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:76212200-76224400	Weak transcription	K562	blood
44	chr11:76212200-76229200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:76212200-76234200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:76212400-76221400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:76212400-76224400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:76212400-76224400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:76212400-76228200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:76212600-76224400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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