Variant report

Variant	rs72915032
Chromosome Location	chr2:54725151-54725152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54716343..54718706-chr2:54724549..54726688,2	MCF-7	breast:
2	chr2:54719586..54722384-chr2:54724826..54727546,2	K562	blood:
3	chr2:54715431..54717877-chr2:54722811..54726356,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13405115	1.00[ASN][1000 genomes]
rs17343918	1.00[ASN][1000 genomes]
rs17344343	1.00[ASN][1000 genomes]
rs17415829	1.00[ASN][1000 genomes]
rs17415857	1.00[ASN][1000 genomes]
rs17416291	1.00[ASN][1000 genomes]
rs17521510	1.00[ASN][1000 genomes]
rs17580255	1.00[ASN][1000 genomes]
rs17580855	1.00[ASN][1000 genomes]
rs17580876	1.00[ASN][1000 genomes]
rs41281497	1.00[ASN][1000 genomes]
rs57810131	1.00[ASN][1000 genomes]
rs58143357	1.00[ASN][1000 genomes]
rs59228485	1.00[ASN][1000 genomes]
rs61480394	1.00[ASN][1000 genomes]
rs72911560	1.00[ASN][1000 genomes]
rs72911563	1.00[ASN][1000 genomes]
rs73932786	1.00[ASN][1000 genomes]
rs73932787	1.00[ASN][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:54716000-54730000	Weak transcription	NH-A	brain
10	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
11	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
12	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
13	chr2:54718200-54725200	Weak transcription	Pancreas	Pancrea
14	chr2:54718200-54726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:54718200-54727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:54718600-54727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:54719000-54725200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:54719000-54725800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
20	chr2:54719400-54726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:54719800-54728000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:54719800-54728200	Weak transcription	Gastric	stomach
23	chr2:54721200-54726200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:54721400-54725600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:54721600-54726200	Weak transcription	NHLF	lung
26	chr2:54722000-54726600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:54722600-54725200	Weak transcription	Psoas Muscle	Psoas
28	chr2:54722600-54726400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:54722600-54728200	Weak transcription	Spleen	Spleen
30	chr2:54723400-54725600	Enhancers	Primary hematopoietic stem cells	blood
31	chr2:54723400-54725800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr2:54723800-54725600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:54723800-54727200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:54723800-54727200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:54723800-54732600	Enhancers	Fetal Heart	heart
36	chr2:54723800-54733000	Enhancers	Adipose Nuclei	Adipose
37	chr2:54724000-54725200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:54724000-54726200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:54724000-54726400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:54724000-54726800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:54724000-54728600	Enhancers	HepG2	liver
42	chr2:54724000-54731400	Enhancers	Colon Smooth Muscle	Colon
43	chr2:54724200-54725200	Enhancers	A549	lung
44	chr2:54724200-54725400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr2:54724200-54725600	Enhancers	Fetal Thymus	thymus
46	chr2:54724200-54726400	Enhancers	Right Ventricle	heart
47	chr2:54724200-54726800	Enhancers	Fetal Stomach	stomach
48	chr2:54724200-54729600	Enhancers	Fetal Muscle Leg	muscle
49	chr2:54724200-54732800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:54724200-54732800	Enhancers	Brain Cingulate Gyrus	brain

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