Variant report

Variant	rs4754361
Chromosome Location	chr11:108785673-108785674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1035724	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10502105	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890907	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212815	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11212820	0.91[ASN][1000 genomes]
rs11212821	0.91[ASN][1000 genomes]
rs11212822	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12794068	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2059540	0.94[EUR][1000 genomes]
rs2162158	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2466927	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2466928	0.94[EUR][1000 genomes]
rs2466939	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2466940	0.94[EUR][1000 genomes]
rs2514118	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2514120	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553748	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553755	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553762	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2553766	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553767	0.94[EUR][1000 genomes]
rs2615716	0.82[ASN][1000 genomes]
rs2615718	0.80[ASN][1000 genomes]
rs2615728	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2615729	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2615732	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2615755	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2615760	0.83[ASN][1000 genomes]
rs2615761	0.83[ASN][1000 genomes]
rs2624128	0.81[ASN][1000 genomes]
rs2624149	0.81[ASN][1000 genomes]
rs2726869	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2726871	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2726875	0.83[ASN][1000 genomes]
rs2726893	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2726894	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2726895	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2726899	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2726901	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2726902	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2726903	0.93[EUR][1000 genomes]
rs2726904	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2726912	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2726923	0.94[EUR][1000 genomes]
rs35273823	0.92[EUR][1000 genomes]
rs4027412	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4754362	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4754364	0.91[ASN][1000 genomes]
rs7112835	0.91[ASN][1000 genomes]
rs7113892	0.91[ASN][1000 genomes]
rs7130411	0.92[ASN][1000 genomes]
rs919038	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
2	chr11:108763000-108797600	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:108768000-108810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:108769000-108791200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:108769200-108788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:108769800-108789600	Weak transcription	Primary B cells from cord blood	blood
7	chr11:108775000-108794400	Weak transcription	Aorta	Aorta
8	chr11:108777200-108797000	Weak transcription	Psoas Muscle	Psoas
9	chr11:108777800-108786800	Weak transcription	NHEK	skin
10	chr11:108778000-108786800	Weak transcription	NHDF-Ad	bronchial
11	chr11:108778000-108799600	Weak transcription	HMEC	breast
12	chr11:108778200-108810600	Weak transcription	Ovary	ovary
13	chr11:108778600-108785800	Weak transcription	NHLF	lung
14	chr11:108780600-108810600	Weak transcription	Pancreas	Pancrea
15	chr11:108780800-108790000	Weak transcription	Dnd41	blood
16	chr11:108781400-108787800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:108781600-108810400	Weak transcription	GM12878-XiMat	blood
18	chr11:108781800-108793200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:108782200-108792000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:108783000-108810600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:108784000-108785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:108784000-108786200	Weak transcription	Osteobl	bone
23	chr11:108784000-108786800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:108784000-108787000	Weak transcription	HSMMtube	muscle
25	chr11:108784200-108786800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:108784200-108796600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:108784400-108786800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:108784400-108793200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:108784400-108804000	Weak transcription	K562	blood
30	chr11:108785000-108787600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:108785000-108787600	Enhancers	A549	lung
32	chr11:108785000-108788400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:108785200-108785800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:108785200-108786400	Weak transcription	NH-A	brain
35	chr11:108785200-108807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:108785400-108785800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:108785600-108786600	Enhancers	Hela-S3	cervix
38	chr11:108785600-108788200	Enhancers	Muscle Satellite Cultured Cells	--

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