Variant report

Variant	rs72920563
Chromosome Location	chr2:54844862-54844863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54799047..54801001-chr2:54844688..54847061,2	MCF-7	breast:
2	chr2:54837203..54842761-chr2:54843020..54847377,6	K562	blood:
3	chr2:54843777..54846738-chr2:54866756..54869146,2	MCF-7	breast:
4	chr2:54844139..54846424-chr2:198364011..198365703,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115541	Chromatin interaction
ENSG00000144381	Chromatin interaction
ENSG00000270757	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11888386	1.00[EUR][1000 genomes]
rs17046281	1.00[EUR][1000 genomes]
rs57381328	1.00[EUR][1000 genomes]
rs57623434	1.00[EUR][1000 genomes]
rs57749522	1.00[EUR][1000 genomes]
rs58833605	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs59039394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60282658	1.00[EUR][1000 genomes]
rs60410507	1.00[EUR][1000 genomes]
rs6705313	1.00[EUR][1000 genomes]
rs6714663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6740557	1.00[EUR][1000 genomes]
rs6743161	1.00[EUR][1000 genomes]
rs6751570	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906405	1.00[EUR][1000 genomes]
rs72906407	1.00[EUR][1000 genomes]
rs72906419	1.00[EUR][1000 genomes]
rs72906421	1.00[EUR][1000 genomes]
rs72906425	1.00[EUR][1000 genomes]
rs72906426	1.00[EUR][1000 genomes]
rs72911566	1.00[EUR][1000 genomes]
rs72911570	1.00[EUR][1000 genomes]
rs72911573	1.00[EUR][1000 genomes]
rs72913008	1.00[EUR][1000 genomes]
rs72913540	1.00[EUR][1000 genomes]
rs72913543	1.00[EUR][1000 genomes]
rs72913547	1.00[EUR][1000 genomes]
rs72913549	1.00[EUR][1000 genomes]
rs72913551	1.00[EUR][1000 genomes]
rs72915537	1.00[EUR][1000 genomes]
rs72915543	1.00[EUR][1000 genomes]
rs72915544	1.00[EUR][1000 genomes]
rs72915554	1.00[EUR][1000 genomes]
rs72915563	1.00[EUR][1000 genomes]
rs72915572	1.00[EUR][1000 genomes]
rs72915587	1.00[EUR][1000 genomes]
rs72915590	1.00[EUR][1000 genomes]
rs72917518	1.00[EUR][1000 genomes]
rs72917541	1.00[EUR][1000 genomes]
rs72917550	1.00[EUR][1000 genomes]
rs72918782	1.00[EUR][1000 genomes]
rs72918788	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920524	1.00[EUR][1000 genomes]
rs72920525	1.00[EUR][1000 genomes]
rs72920549	1.00[EUR][1000 genomes]
rs72920550	1.00[EUR][1000 genomes]
rs72920576	1.00[EUR][1000 genomes]
rs7572839	1.00[EUR][1000 genomes]
rs7580158	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54829800-54859800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54838600-54845600	Strong transcription	GM12878-XiMat	blood
3	chr2:54838800-54845800	Strong transcription	Primary B cells from cord blood	blood
4	chr2:54838800-54845800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:54838800-54846200	Enhancers	Right Atrium	heart
6	chr2:54838800-54848800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:54838800-54860200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:54839000-54846800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:54839000-54848200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:54839000-54864200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:54839200-54845000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:54839200-54845200	Strong transcription	Primary hematopoietic stem cells	blood
14	chr2:54839200-54845200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:54839200-54845200	Strong transcription	Fetal Stomach	stomach
16	chr2:54839200-54845400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:54839200-54845400	Strong transcription	Thymus	Thymus
18	chr2:54839200-54845600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:54839200-54845600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:54839200-54845600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:54839200-54845800	Strong transcription	Colonic Mucosa	Colon
22	chr2:54839200-54846800	Genic enhancers	Liver	Liver
23	chr2:54839200-54848600	Genic enhancers	Left Ventricle	heart
24	chr2:54839200-54861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:54839200-54866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:54839400-54853000	Strong transcription	Fetal Intestine Large	intestine
27	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:54839600-54845200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:54839600-54845200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:54839600-54852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:54839600-54862600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:54839800-54846800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr2:54839800-54847200	Genic enhancers	Fetal Lung	lung
34	chr2:54840000-54845400	Strong transcription	Fetal Thymus	thymus
35	chr2:54840800-54845600	Strong transcription	Dnd41	blood
36	chr2:54840800-54861400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:54841000-54845400	Strong transcription	Placenta	Placenta
38	chr2:54841000-54861400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:54841000-54861400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:54841200-54845400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:54841200-54845600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:54841200-54846800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:54841200-54847200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:54841200-54861200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:54841400-54845000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:54841600-54845200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:54841600-54845200	Weak transcription	Aorta	Aorta
49	chr2:54841600-54845400	Weak transcription	Stomach Mucosa	stomach
50	chr2:54841600-54845600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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