Variant report

Variant	rs74051925
Chromosome Location	chr11:4166686-4166687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4164447..4167115-chr11:4182459..4184235,3	K562	blood:
2	chr11:4164447..4167814-chr11:4181176..4184235,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10498198	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11031003	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11031065	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11031082	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11031136	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12271818	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12273142	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12273534	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12273972	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12274313	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12288551	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12295358	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2268166	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2268167	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55666376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58517549	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7130539	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74054319	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1053482	chr11:4138062-4276133	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3380413	chr11:4159374-4323846	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv8777	chr11:4159953-4387268	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1045527	chr11:4162019-4225100	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv34983	chr11:4162474-4325792	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv2757417	chr11:4162477-4325792	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv975087	chr11:4166641-4168239	Weak transcription Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4149600-4169400	Weak transcription	Pancreas	Pancrea
2	chr11:4159400-4168000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:4160000-4169200	Weak transcription	NHLF	lung
4	chr11:4160000-4172200	Weak transcription	NHEK	skin
5	chr11:4161200-4166800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:4161400-4169400	Weak transcription	Brain Anterior Caudate	brain
7	chr11:4161600-4179600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:4161800-4166800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:4162400-4167400	Weak transcription	Esophagus	oesophagus
10	chr11:4162400-4167400	Weak transcription	Fetal Stomach	stomach
11	chr11:4162400-4167600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:4162400-4168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:4162400-4168200	Weak transcription	Fetal Kidney	kidney
14	chr11:4162400-4169400	Weak transcription	Brain Germinal Matrix	brain
15	chr11:4162400-4172200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:4162600-4167200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:4162600-4167200	Weak transcription	HMEC	breast
18	chr11:4162600-4167800	Weak transcription	Spleen	Spleen
19	chr11:4163000-4173000	Weak transcription	Psoas Muscle	Psoas
20	chr11:4163200-4167000	Weak transcription	Adipose Nuclei	Adipose
21	chr11:4163200-4167200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:4163200-4168600	Weak transcription	Fetal Brain Male	brain
23	chr11:4163200-4170800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:4163400-4166800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:4163400-4167200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:4163400-4169200	Weak transcription	Aorta	Aorta
27	chr11:4163400-4169200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:4163400-4173000	Weak transcription	HSMM	muscle
29	chr11:4163600-4168600	Weak transcription	Brain Angular Gyrus	brain
30	chr11:4163600-4168600	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:4163800-4167200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:4163800-4167400	Weak transcription	Fetal Intestine Large	intestine
33	chr11:4163800-4167600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:4163800-4169200	Weak transcription	Left Ventricle	heart
35	chr11:4164800-4166800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:4164800-4169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:4165000-4166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:4165000-4168800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:4165000-4168800	Weak transcription	GM12878-XiMat	blood
40	chr11:4165000-4169000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:4165200-4166800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:4165200-4168000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:4165200-4172200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:4165400-4169200	Weak transcription	Dnd41	blood
45	chr11:4165600-4167000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:4165600-4167000	Enhancers	K562	blood
47	chr11:4165600-4169600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:4165800-4167000	Weak transcription	Thymus	Thymus
49	chr11:4165800-4167400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:4165800-4169400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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