Variant report

Variant	rs74146928
Chromosome Location	chr1:225610839-225610840
allele	G/T
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	POLR2A	chr1:225609655-225611575	K562	blood:	n/a	n/a
2	GATA3	chr1:225610653-225611205	SH-SY5Y	brain:	n/a	n/a
3	EP300	chr1:225609718-225612078	SK-N-SH	brain:	n/a	chr1:225609737-225609751
4	MXI1	chr1:225609788-225616921	SK-N-SH	brain:	n/a	n/a
5	GATA2	chr1:225610471-225611516	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225609832..225612207-chr1:225614120..225615659,2	MCF-7	breast:

Variant related genes	Relation type
LBR	TF binding region
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58565704	1.00[AMR][1000 genomes]
rs60703299	1.00[AMR][1000 genomes]
rs74146933	1.00[AMR][1000 genomes]
rs74147000	1.00[AMR][1000 genomes]
rs74149828	1.00[AMR][1000 genomes]
rs74149847	1.00[AMR][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr1:225597600-225611200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:225597800-225611200	Strong transcription	HMEC	breast
3	chr1:225597800-225611400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:225599800-225611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:225599800-225614000	Weak transcription	Right Ventricle	heart
6	chr1:225602800-225611200	Weak transcription	Pancreas	Pancrea
7	chr1:225602800-225612400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:225602800-225613600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:225603400-225612400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:225604200-225611000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:225604400-225611200	Weak transcription	Fetal Heart	heart
12	chr1:225607000-225611000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:225607000-225611000	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:225607000-225611000	Weak transcription	Left Ventricle	heart
15	chr1:225607000-225611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:225607000-225611200	Weak transcription	Aorta	Aorta
17	chr1:225607000-225611200	Weak transcription	Psoas Muscle	Psoas
18	chr1:225607000-225611200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:225607000-225611200	Weak transcription	Spleen	Spleen
20	chr1:225607000-225612200	Weak transcription	Brain Anterior Caudate	brain
21	chr1:225607000-225612400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:225607000-225612400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:225607000-225612400	Weak transcription	Esophagus	oesophagus
24	chr1:225607000-225613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:225607200-225611000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:225607200-225611000	Weak transcription	Lung	lung
27	chr1:225607200-225611200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:225607200-225611200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:225607200-225612000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:225607200-225612000	Weak transcription	HSMMtube	muscle
31	chr1:225607200-225612400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:225607200-225612400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:225607200-225612400	Weak transcription	Ovary	ovary
34	chr1:225607400-225612200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:225607400-225612400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:225607600-225611200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:225607600-225612200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:225607600-225612400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:225607600-225612400	Weak transcription	Placenta	Placenta
40	chr1:225607800-225611000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:225608200-225612400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:225608400-225612400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:225608400-225612600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:225608600-225611200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:225608800-225611000	Weak transcription	NHDF-Ad	bronchial
46	chr1:225609000-225611200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:225609000-225611400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:225609600-225615200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:225609800-225611000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:225609800-225611200	Genic enhancers	Dnd41	blood

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