Variant report

Variant	rs4752814
Chromosome Location	chr11:46975387-46975388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10838638	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039048	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11488791	0.90[AMR][1000 genomes]
rs12224831	1.00[AMR][1000 genomes]
rs12273333	0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12274845	0.82[ASW][hapmap];0.80[AMR][1000 genomes]
rs12280455	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12291377	0.85[AMR][1000 genomes]
rs2035067	0.88[ASW][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs57683872	0.80[AMR][1000 genomes]
rs59520560	0.90[AMR][1000 genomes]
rs60741480	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6485713	0.88[ASW][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes]
rs6485718	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7117243	0.80[AMR][1000 genomes]
rs7117590	0.82[ASW][hapmap];0.80[AMR][1000 genomes]
rs7123059	0.90[AMR][1000 genomes]
rs73462027	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7935192	0.82[ASW][hapmap];0.80[AMR][1000 genomes]
rs7940468	0.90[AMR][1000 genomes]
rs7944021	0.80[AMR][1000 genomes]
rs7945052	0.80[AMR][1000 genomes]
rs9804415	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9971621	0.80[AMR][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	esv1805201	chr11:46971012-47063429	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1819852	chr11:46971012-47064542	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46959000-46975600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:46959000-46977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:46959000-46980000	Weak transcription	Aorta	Aorta
4	chr11:46959000-46980000	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:46959000-46980000	Weak transcription	Ovary	ovary
6	chr11:46959000-46980200	Weak transcription	Primary B cells from cord blood	blood
7	chr11:46959000-46980200	Weak transcription	Gastric	stomach
8	chr11:46959000-46980200	Weak transcription	Lung	lung
9	chr11:46959000-46980200	Weak transcription	Thymus	Thymus
10	chr11:46959000-46981000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:46959000-46982200	Weak transcription	Fetal Kidney	kidney
12	chr11:46959000-46982400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:46959000-46982600	Weak transcription	Fetal Thymus	thymus
14	chr11:46959000-46998600	Weak transcription	Left Ventricle	heart
15	chr11:46959200-46980200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:46959200-46980200	Weak transcription	Dnd41	blood
17	chr11:46959200-46985000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:46959200-46990600	Weak transcription	Brain Angular Gyrus	brain
19	chr11:46959200-46990600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:46959200-46993800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:46959600-46978800	Weak transcription	Fetal Brain Male	brain
22	chr11:46959600-46980000	Weak transcription	Fetal Brain Female	brain
23	chr11:46965200-46975400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:46965200-46984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:46967200-46978800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:46969000-46980200	Weak transcription	Fetal Lung	lung
27	chr11:46969400-46980000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:46969400-46980200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:46969800-46980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:46970000-46977000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:46970200-46980000	Weak transcription	Fetal Stomach	stomach
32	chr11:46970200-46983400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:46970400-46976800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:46970400-46980200	Weak transcription	HSMMtube	muscle
35	chr11:46970600-46976200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:46970600-46980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:46970600-46980200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:46970600-46980200	Weak transcription	HSMM	muscle
39	chr11:46970600-46993200	Weak transcription	Small Intestine	intestine
40	chr11:46970800-46980600	Weak transcription	A549	lung
41	chr11:46971000-46975800	Weak transcription	Fetal Intestine Small	intestine
42	chr11:46971000-46980000	Weak transcription	Fetal Intestine Large	intestine
43	chr11:46971000-46992400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:46971200-46980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:46971600-46980200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr11:46971600-46995600	Weak transcription	Pancreas	Pancrea
47	chr11:46971600-47006600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:46973800-46975600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:46974000-46980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:46974000-46980200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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