Variant report

Variant	rs72887050
Chromosome Location	chr1:45474065-45474066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45469387..45472063-chr1:45473604..45475987,2	MCF-7	breast:
2	chr1:45186233..45187885-chr1:45472421..45474659,2	K562	blood:
3	chr1:45451325..45453836-chr1:45473269..45474967,2	MCF-7	breast:
4	chr1:45282320..45290015-chr1:45470338..45482903,45	K562	blood:
5	chr1:45471285..45474230-chr1:45476025..45477954,2	MCF-7	breast:
6	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
7	chr1:45469532..45472999-chr1:45473175..45475841,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126107	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10890315	1.00[AMR][1000 genomes]
rs11211054	1.00[AMR][1000 genomes]
rs11211065	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059608	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061569	0.99[AFR][1000 genomes]
rs12063958	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12068434	0.94[AFR][1000 genomes]
rs12073834	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12083931	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084076	0.89[AMR][1000 genomes]
rs12084469	0.99[AFR][1000 genomes]
rs12084731	1.00[AMR][1000 genomes]
rs12086670	0.97[AFR][1000 genomes]
rs12087439	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089789	1.00[AMR][1000 genomes]
rs12092185	0.94[AFR][1000 genomes]
rs28848532	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57180038	1.00[AMR][1000 genomes]
rs58263876	1.00[AMR][1000 genomes]
rs60060850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61027524	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61498433	0.97[AFR][1000 genomes]
rs61741088	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6429555	0.94[AFR][1000 genomes]
rs6671064	1.00[AMR][1000 genomes]
rs6671639	1.00[AMR][1000 genomes]
rs6671658	1.00[AMR][1000 genomes]
rs6682367	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885257	1.00[AMR][1000 genomes]
rs72885265	1.00[AMR][1000 genomes]
rs72885293	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887005	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887019	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887047	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887057	0.99[AFR][1000 genomes]
rs72887059	0.99[AFR][1000 genomes]
rs72887092	0.94[AFR][1000 genomes]
rs7512020	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547844	0.87[AMR][1000 genomes]
rs7555900	1.00[AMR][1000 genomes]
rs9728837	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45452800-45475200	Weak transcription	Right Atrium	heart
2	chr1:45466600-45474800	Strong transcription	Fetal Brain Female	brain
3	chr1:45466600-45475000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:45466800-45475000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr1:45466800-45475200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:45466800-45475200	Strong transcription	Primary T cells from cord blood	blood
7	chr1:45466800-45475200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:45466800-45475200	Strong transcription	Fetal Stomach	stomach
9	chr1:45467000-45474400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:45467000-45474800	Strong transcription	Colonic Mucosa	Colon
11	chr1:45467000-45475200	Strong transcription	NHLF	lung
12	chr1:45467000-45475400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:45467000-45475400	Weak transcription	Psoas Muscle	Psoas
14	chr1:45467000-45476400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:45467200-45474400	Strong transcription	Brain Germinal Matrix	brain
16	chr1:45467200-45475200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:45467400-45474800	Strong transcription	Fetal Muscle Leg	muscle
18	chr1:45467400-45474800	Strong transcription	Spleen	Spleen
19	chr1:45467400-45475000	Strong transcription	Esophagus	oesophagus
20	chr1:45467400-45475200	Strong transcription	Lung	lung
21	chr1:45467400-45475200	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr1:45467400-45475400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:45467400-45475400	Strong transcription	Fetal Thymus	thymus
24	chr1:45467400-45475400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:45467600-45474600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:45467600-45474600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:45467600-45474800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:45467600-45474800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:45467600-45474800	Strong transcription	Brain Angular Gyrus	brain
30	chr1:45467600-45474800	Strong transcription	Placenta	Placenta
31	chr1:45467600-45474800	Strong transcription	Ovary	ovary
32	chr1:45467600-45475000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:45467600-45475000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:45467600-45475000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:45467600-45475000	Strong transcription	Brain Anterior Caudate	brain
36	chr1:45467600-45475200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:45467600-45475200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:45467600-45475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:45467600-45475200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:45467600-45475200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:45467600-45475200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:45467600-45475200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:45467600-45475200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:45467600-45475200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr1:45467600-45475400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:45467600-45475400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:45467600-45475400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:45467600-45475400	Strong transcription	Thymus	Thymus
49	chr1:45467600-45475600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:45467800-45474200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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