Variant report

Variant	rs4561702
Chromosome Location	chr2:54717168-54717169
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54711498..54713391-chr2:54714675..54717364,2	K562	blood:
2	chr2:54715431..54717877-chr2:54722811..54726356,3	K562	blood:
3	chr2:54716343..54718706-chr2:54724549..54726688,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10171331	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10205013	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12477221	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17039554	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17045917	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087854	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233950	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4635562	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4671218	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671940	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58779052	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545409	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6718276	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6754429	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618660	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618661	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618662	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7599380	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	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
4	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
5	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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54707600-54717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:54707800-54720800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:54710600-54725000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:54711200-54718800	Weak transcription	Aorta	Aorta
6	chr2:54711600-54724400	Weak transcription	HSMMtube	muscle
7	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:54711800-54717800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:54711800-54721000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:54712000-54717800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:54712000-54717800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:54712000-54721000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:54712400-54717800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:54712400-54719600	Weak transcription	Lung	lung
16	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:54714600-54724200	Weak transcription	A549	lung
21	chr2:54714800-54719400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:54714800-54720000	Enhancers	Fetal Heart	heart
23	chr2:54715400-54717200	Enhancers	Adipose Nuclei	Adipose
24	chr2:54715400-54718400	Enhancers	Left Ventricle	heart
25	chr2:54715600-54717600	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
27	chr2:54715800-54717200	Weak transcription	Right Ventricle	heart
28	chr2:54715800-54717600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:54715800-54717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:54715800-54717600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:54715800-54717600	Weak transcription	Brain Substantia Nigra	brain
32	chr2:54715800-54717800	Weak transcription	Ovary	ovary
33	chr2:54715800-54718200	Weak transcription	HSMM	muscle
34	chr2:54715800-54719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:54715800-54719600	Weak transcription	Fetal Stomach	stomach
36	chr2:54715800-54720800	Weak transcription	NHDF-Ad	bronchial
37	chr2:54715800-54720800	Weak transcription	NHLF	lung
38	chr2:54715800-54722200	Weak transcription	Spleen	Spleen
39	chr2:54715800-54724600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:54716000-54717600	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:54716000-54717800	Weak transcription	Brain Anterior Caudate	brain
42	chr2:54716000-54721000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:54716000-54721000	Weak transcription	Osteobl	bone
44	chr2:54716000-54730000	Weak transcription	NH-A	brain
45	chr2:54716200-54717800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:54716200-54717800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:54716200-54717800	Weak transcription	Fetal Lung	lung
48	chr2:54716200-54721000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
50	chr2:54716400-54717400	Weak transcription	Right Atrium	heart

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