Variant report

Variant	rs73421294
Chromosome Location	chr11:4165633-4165634
allele	A/G
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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs61547259	1.00[AMR][1000 genomes]
rs68193687	1.00[AMR][1000 genomes]
rs72555774	1.00[AMR][1000 genomes]
rs73417185	1.00[AMR][1000 genomes]
rs73419262	1.00[AMR][1000 genomes]
rs73419269	1.00[AMR][1000 genomes]
rs73419272	1.00[AMR][1000 genomes]
rs73419294	1.00[AMR][1000 genomes]
rs73421256	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4126600-4166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:4149600-4169400	Weak transcription	Pancreas	Pancrea
3	chr11:4157000-4166000	Weak transcription	NH-A	brain
4	chr11:4159400-4168000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:4160000-4169200	Weak transcription	NHLF	lung
6	chr11:4160000-4172200	Weak transcription	NHEK	skin
7	chr11:4160400-4166000	Weak transcription	Placenta	Placenta
8	chr11:4160600-4165800	Strong transcription	Thymus	Thymus
9	chr11:4161200-4166800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:4161400-4166000	Weak transcription	Fetal Heart	heart
11	chr11:4161400-4166400	Weak transcription	HUVEC	blood vessel
12	chr11:4161400-4169400	Weak transcription	Brain Anterior Caudate	brain
13	chr11:4161600-4179600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:4161800-4166800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:4162400-4165800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr11:4162400-4166000	Strong transcription	Primary T cells from cord blood	blood
17	chr11:4162400-4166000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:4162400-4166200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:4162400-4166400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:4162400-4167400	Weak transcription	Esophagus	oesophagus
21	chr11:4162400-4167400	Weak transcription	Fetal Stomach	stomach
22	chr11:4162400-4167600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:4162400-4168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:4162400-4168200	Weak transcription	Fetal Kidney	kidney
25	chr11:4162400-4169400	Weak transcription	Brain Germinal Matrix	brain
26	chr11:4162400-4172200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:4162600-4166000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:4162600-4166000	Strong transcription	A549	lung
29	chr11:4162600-4166400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:4162600-4167200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:4162600-4167200	Weak transcription	HMEC	breast
32	chr11:4162600-4167800	Weak transcription	Spleen	Spleen
33	chr11:4162800-4166600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:4163000-4166000	Weak transcription	Ovary	ovary
35	chr11:4163000-4173000	Weak transcription	Psoas Muscle	Psoas
36	chr11:4163200-4165800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:4163200-4166000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:4163200-4167000	Weak transcription	Adipose Nuclei	Adipose
39	chr11:4163200-4167200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:4163200-4168600	Weak transcription	Fetal Brain Male	brain
41	chr11:4163200-4170800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:4163400-4165800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:4163400-4166800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:4163400-4167200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:4163400-4169200	Weak transcription	Aorta	Aorta
46	chr11:4163400-4169200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:4163400-4173000	Weak transcription	HSMM	muscle
48	chr11:4163600-4166400	Weak transcription	Primary B cells from cord blood	blood
49	chr11:4163600-4168600	Weak transcription	Brain Angular Gyrus	brain
50	chr11:4163600-4168600	Weak transcription	Fetal Muscle Leg	muscle

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