Variant report

Variant	rs72618661
Chromosome Location	chr2:54703114-54703115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10171331	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10205013	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12477221	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17039554	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17045917	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3087854	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4233950	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4561702	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4635562	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4671218	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671933	0.81[EUR][1000 genomes]
rs4671940	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671943	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58779052	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6545409	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6718276	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6754429	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618660	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618662	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7599380	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1004645	chr2:54686497-54718440	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1008888	chr2:54690695-54715300	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3693290	chr2:54693204-54707562	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv438348	chr2:54693204-54714066	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv817939	chr2:54693204-54718181	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54696800-54703600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:54697200-54707200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:54697200-54709600	Weak transcription	Placenta	Placenta
4	chr2:54698800-54703400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:54698800-54705200	Weak transcription	Lung	lung
6	chr2:54698800-54707200	Weak transcription	Pancreas	Pancrea
7	chr2:54699000-54706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:54699200-54706200	Weak transcription	HUVEC	blood vessel
9	chr2:54699600-54703200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:54699600-54706600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:54699600-54709200	Weak transcription	Aorta	Aorta
12	chr2:54699800-54703200	Weak transcription	Fetal Brain Female	brain
13	chr2:54699800-54707000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:54699800-54709600	Weak transcription	Osteobl	bone
15	chr2:54700200-54703400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:54700400-54703600	Weak transcription	NHLF	lung
17	chr2:54700600-54705600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:54700600-54705600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:54701000-54703400	Enhancers	Psoas Muscle	Psoas
20	chr2:54701000-54703800	Enhancers	Fetal Muscle Leg	muscle
21	chr2:54701000-54703800	Genic enhancers	Left Ventricle	heart
22	chr2:54701000-54703800	Enhancers	Ovary	ovary
23	chr2:54701200-54705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:54701200-54707200	Weak transcription	Fetal Brain Male	brain
25	chr2:54701400-54703200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:54701400-54703800	Genic enhancers	HSMM	muscle
27	chr2:54701400-54704800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:54701400-54705000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:54701400-54709800	Weak transcription	Brain Germinal Matrix	brain
30	chr2:54701600-54703600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:54701600-54703600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:54701600-54703600	Weak transcription	A549	lung
33	chr2:54701600-54703800	Enhancers	HSMMtube	muscle
34	chr2:54701600-54704800	Weak transcription	Fetal Stomach	stomach
35	chr2:54701600-54715400	Weak transcription	Fetal Kidney	kidney
36	chr2:54702200-54703600	Enhancers	Brain Hippocampus Middle	brain
37	chr2:54702200-54703800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:54702200-54703800	Enhancers	Right Ventricle	heart
39	chr2:54702200-54704000	Enhancers	Brain Anterior Caudate	brain
40	chr2:54702200-54712200	Enhancers	Fetal Heart	heart
41	chr2:54702400-54703800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr2:54702400-54704600	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:54702400-54704800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:54702400-54705600	Enhancers	Brain Substantia Nigra	brain
45	chr2:54702400-54708200	Enhancers	Adipose Nuclei	Adipose
46	chr2:54702400-54712000	Enhancers	Colon Smooth Muscle	Colon
47	chr2:54702600-54703200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:54702600-54703600	Enhancers	Brain Angular Gyrus	brain
49	chr2:54702600-54703800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:54702600-54703800	Enhancers	Liver	Liver

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