Variant report

Variant	rs73932784
Chromosome Location	chr2:54731634-54731635
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:21)

rs_ID	r²[population]
rs10166179	1.00[EUR][1000 genomes]
rs1030601	1.00[EUR][1000 genomes]
rs11885098	1.00[EUR][1000 genomes]
rs11895933	1.00[EUR][1000 genomes]
rs13386997	1.00[EUR][1000 genomes]
rs13394958	1.00[EUR][1000 genomes]
rs13409783	1.00[EUR][1000 genomes]
rs13419870	1.00[EUR][1000 genomes]
rs3936082	1.00[EUR][1000 genomes]
rs56726104	1.00[EUR][1000 genomes]
rs61332964	1.00[EUR][1000 genomes]
rs61743072	1.00[EUR][1000 genomes]
rs6545436	1.00[EUR][1000 genomes]
rs6753590	1.00[EUR][1000 genomes]
rs6753689	1.00[EUR][1000 genomes]
rs6756814	1.00[EUR][1000 genomes]
rs6757017	1.00[EUR][1000 genomes]
rs72918768	1.00[EUR][1000 genomes]
rs73932783	0.85[AFR][1000 genomes]
rs73934323	1.00[EUR][1000 genomes]
rs7559157	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv518406	chr2:54723271-54761329	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
3	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
4	chr2:54723800-54732600	Enhancers	Fetal Heart	heart
5	chr2:54723800-54733000	Enhancers	Adipose Nuclei	Adipose
6	chr2:54724200-54732800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:54724200-54732800	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:54724400-54732800	Enhancers	Brain Hippocampus Middle	brain
9	chr2:54724600-54732800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:54724800-54732200	Enhancers	Ovary	ovary
11	chr2:54725000-54733000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:54725200-54732200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:54725200-54737600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:54725600-54732600	Weak transcription	Small Intestine	intestine
15	chr2:54725800-54732800	Enhancers	NHDF-Ad	bronchial
16	chr2:54726000-54733000	Enhancers	Brain Angular Gyrus	brain
17	chr2:54726200-54731800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:54726400-54732200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:54726400-54740000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:54726400-54740000	Weak transcription	Pancreas	Pancrea
21	chr2:54726600-54733000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:54727400-54732400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:54727600-54737800	Weak transcription	A549	lung
24	chr2:54728000-54732800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:54728000-54737400	Weak transcription	HSMM	muscle
26	chr2:54728200-54732600	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:54728400-54732200	Weak transcription	Stomach Mucosa	stomach
28	chr2:54728400-54732600	Weak transcription	Fetal Intestine Small	intestine
29	chr2:54729000-54732800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:54729000-54733400	Weak transcription	Gastric	stomach
31	chr2:54729600-54732400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:54729800-54732800	Enhancers	NHLF	lung
33	chr2:54730000-54739400	Weak transcription	Fetal Brain Female	brain
34	chr2:54730200-54732800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:54730200-54735400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:54730200-54736800	Weak transcription	Placenta	Placenta
37	chr2:54730400-54732200	Weak transcription	Liver	Liver
38	chr2:54730400-54732800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:54730400-54736800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:54730400-54747600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:54730600-54732600	Weak transcription	Left Ventricle	heart
42	chr2:54730600-54732600	Weak transcription	Lung	lung
43	chr2:54730600-54735600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:54730600-54736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:54730600-54739000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:54730600-54739200	Weak transcription	Spleen	Spleen
47	chr2:54730600-54739400	Weak transcription	HepG2	liver
48	chr2:54730600-54740000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:54730800-54731800	Enhancers	Fetal Muscle Leg	muscle
50	chr2:54730800-54732600	Weak transcription	Right Ventricle	heart

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