Variant report

Variant	rs73011246
Chromosome Location	chr1:150068132-150068133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:150068117-150068248	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:149857391..149860887-chr1:150063612..150068744,5	MCF-7	breast:
2	chr1:149856946..149859220-chr1:150065871..150068807,2	MCF-7	breast:

Variant related genes	Relation type
VPS45	TF binding region
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10157931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494262	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10788868	1.00[EUR][1000 genomes]
rs13374103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1545761	1.00[EUR][1000 genomes]
rs16833279	1.00[EUR][1000 genomes]
rs16833591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835652	1.00[EUR][1000 genomes]
rs3118123	1.00[EUR][1000 genomes]
rs57788184	1.00[EUR][1000 genomes]
rs57819791	1.00[EUR][1000 genomes]
rs59821426	1.00[EUR][1000 genomes]
rs60109648	1.00[EUR][1000 genomes]
rs60307722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60616215	1.00[EUR][1000 genomes]
rs6587748	1.00[EUR][1000 genomes]
rs6671747	1.00[EUR][1000 genomes]
rs6689338	1.00[EUR][1000 genomes]
rs6689495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011248	1.00[EUR][1000 genomes]
rs73011264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011271	1.00[EUR][1000 genomes]
rs73011273	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011380	1.00[EUR][1000 genomes]
rs73016142	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73016148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124337	1.00[EUR][1000 genomes]
rs74124339	1.00[EUR][1000 genomes]
rs7520088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527755	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs946521	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150040200-150090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:150040400-150078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:150040400-150082800	Weak transcription	Small Intestine	intestine
4	chr1:150040400-150086800	Weak transcription	Esophagus	oesophagus
5	chr1:150040400-150121400	Weak transcription	Pancreas	Pancrea
6	chr1:150040600-150072200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:150040600-150092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:150041000-150114400	Weak transcription	Right Ventricle	heart
9	chr1:150041400-150069200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:150042200-150073400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:150042200-150086600	Weak transcription	Gastric	stomach
12	chr1:150042600-150090800	Weak transcription	Stomach Mucosa	stomach
13	chr1:150048400-150068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:150050600-150084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:150052000-150071400	Weak transcription	Fetal Intestine Small	intestine
16	chr1:150052000-150116800	Weak transcription	Spleen	Spleen
17	chr1:150055000-150086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:150055000-150100600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:150055000-150120800	Weak transcription	Aorta	Aorta
20	chr1:150055200-150069600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:150055200-150078400	Weak transcription	Thymus	Thymus
22	chr1:150055200-150096000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:150055200-150104800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:150055600-150076400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:150056000-150072200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:150056200-150074200	Weak transcription	Lung	lung
27	chr1:150056200-150081800	Weak transcription	Brain Substantia Nigra	brain
28	chr1:150056600-150073400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:150056600-150086400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:150056800-150073400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:150057000-150084800	Weak transcription	A549	lung
32	chr1:150059200-150068400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:150060000-150096000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:150061000-150070000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:150061000-150070000	Weak transcription	Fetal Stomach	stomach
36	chr1:150061000-150116800	Weak transcription	Ovary	ovary
37	chr1:150061800-150084800	Weak transcription	Left Ventricle	heart
38	chr1:150062200-150068800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:150062200-150069200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:150062200-150071400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:150062800-150072800	Strong transcription	Adipose Nuclei	Adipose
42	chr1:150063000-150069200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:150063000-150073000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:150063400-150069800	Strong transcription	Osteobl	bone
45	chr1:150063600-150073400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:150063800-150068200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:150063800-150068800	Strong transcription	Placenta	Placenta
48	chr1:150063800-150069200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:150063800-150083400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:150064000-150068200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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