Variant report

Variant	rs72913102
Chromosome Location	chr2:54700904-54700905
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	chr2:54699717..54702089-chr2:54703143..54705442,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56801102	1.00[AMR][1000 genomes]
rs60870157	1.00[AMR][1000 genomes]
rs72906405	1.00[AMR][1000 genomes]
rs72911148	1.00[AMR][1000 genomes]
rs72915026	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72920524	1.00[AMR][1000 genomes]
rs72920525	1.00[AMR][1000 genomes]
rs72920549	1.00[AMR][1000 genomes]
rs72920570	1.00[AMR][1000 genomes]
rs72920576	1.00[AMR][1000 genomes]
rs7597532	0.90[AFR][1000 genomes];1.00[AMR][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	chr2:54695200-54701800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:54695600-54701200	Enhancers	Brain Angular Gyrus	brain
3	chr2:54695600-54701400	Enhancers	Adipose Nuclei	Adipose
4	chr2:54695600-54701400	Enhancers	Brain Substantia Nigra	brain
5	chr2:54695600-54701800	Enhancers	Brain Anterior Caudate	brain
6	chr2:54695600-54701800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:54695800-54701600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:54696200-54701200	Enhancers	Fetal Brain Male	brain
9	chr2:54696200-54701800	Enhancers	Brain Hippocampus Middle	brain
10	chr2:54696800-54703600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:54697200-54701200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:54697200-54707200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:54697200-54709600	Weak transcription	Placenta	Placenta
14	chr2:54698400-54701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:54698600-54701400	Enhancers	HSMM	muscle
16	chr2:54698800-54701000	Weak transcription	Ovary	ovary
17	chr2:54698800-54701400	Enhancers	Stomach Smooth Muscle	stomach
18	chr2:54698800-54701600	Enhancers	Fetal Lung	lung
19	chr2:54698800-54702600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:54698800-54702600	Weak transcription	Gastric	stomach
21	chr2:54698800-54702600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:54698800-54702600	Weak transcription	Spleen	Spleen
23	chr2:54698800-54703400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:54698800-54705200	Weak transcription	Lung	lung
25	chr2:54698800-54707200	Weak transcription	Pancreas	Pancrea
26	chr2:54699000-54701000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:54699000-54701000	Enhancers	Fetal Heart	heart
28	chr2:54699000-54701000	Weak transcription	Fetal Stomach	stomach
29	chr2:54699000-54702400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:54699000-54702600	Weak transcription	Right Atrium	heart
31	chr2:54699000-54706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:54699200-54706200	Weak transcription	HUVEC	blood vessel
33	chr2:54699600-54701000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:54699600-54701800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:54699600-54703200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:54699600-54706600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:54699600-54709200	Weak transcription	Aorta	Aorta
38	chr2:54699800-54701000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:54699800-54701000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:54699800-54702400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:54699800-54702400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:54699800-54703200	Weak transcription	Fetal Brain Female	brain
43	chr2:54699800-54707000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:54699800-54709600	Weak transcription	Osteobl	bone
45	chr2:54700000-54701000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:54700000-54701000	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:54700000-54701000	Weak transcription	Left Ventricle	heart
48	chr2:54700000-54701000	Weak transcription	Psoas Muscle	Psoas
49	chr2:54700000-54701000	Weak transcription	Right Ventricle	heart
50	chr2:54700000-54702000	Weak transcription	Fetal Muscle Trunk	muscle

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