Variant report

Variant	rs17045932
Chromosome Location	chr2:54723946-54723947
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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]
rs10153583	0.89[EUR][1000 genomes]
rs10153704	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12328732	0.93[EUR][1000 genomes]
rs12617727	0.87[ASN][1000 genomes]
rs12621180	0.86[ASN][1000 genomes]
rs13403941	0.89[EUR][1000 genomes]
rs13409277	0.89[EUR][1000 genomes]
rs28380233	0.89[EUR][1000 genomes]
rs28441070	0.89[EUR][1000 genomes]
rs28682325	0.89[EUR][1000 genomes]
rs28698551	0.89[EUR][1000 genomes]
rs3769332	0.86[CHB][hapmap]
rs56039013	0.87[ASN][1000 genomes]
rs56138820	0.86[ASN][1000 genomes]
rs57904903	0.94[ASN][1000 genomes]
rs59586067	0.90[ASN][1000 genomes]
rs73932835	0.87[ASN][1000 genomes]
rs73932840	0.87[ASN][1000 genomes]
rs73932845	0.90[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54710600-54725000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:54711600-54724400	Weak transcription	HSMMtube	muscle
4	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:54714600-54724200	Weak transcription	A549	lung
11	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:54715800-54724600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:54716000-54730000	Weak transcription	NH-A	brain
14	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
15	chr2:54716400-54724200	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:54716400-54724600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
18	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
19	chr2:54718200-54724200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:54718200-54725200	Weak transcription	Pancreas	Pancrea
21	chr2:54718200-54726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:54718200-54727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:54718600-54727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:54719000-54724200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:54719000-54725200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:54719000-54725800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
28	chr2:54719400-54726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:54719800-54724200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:54719800-54728000	Weak transcription	Fetal Intestine Small	intestine
31	chr2:54719800-54728200	Weak transcription	Gastric	stomach
32	chr2:54720000-54724000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:54720000-54724000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:54720000-54724400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:54720000-54724600	Weak transcription	Liver	Liver
36	chr2:54721200-54726200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:54721400-54725600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:54721600-54726200	Weak transcription	NHLF	lung
39	chr2:54721800-54724000	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:54721800-54724600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:54722000-54724600	Weak transcription	NHDF-Ad	bronchial
42	chr2:54722000-54726600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:54722200-54724000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:54722400-54724600	Weak transcription	Fetal Lung	lung
45	chr2:54722400-54724800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:54722400-54724800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:54722400-54725000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:54722600-54724000	Weak transcription	HepG2	liver
49	chr2:54722600-54724200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:54722600-54724200	Weak transcription	Fetal Stomach	stomach

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