Variant report

Variant	rs73500427
Chromosome Location	chr7:140307732-140307733
allele	C/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	chr7:140307242-140307787	IMR90	lung:	n/a	n/a
2	RAD21	chr7:140307363-140307837	IMR90	lung:	n/a	n/a
3	MAZ	chr7:140306880-140308019	IMR90	lung:	n/a	n/a
4	TCF12	chr7:140307202-140307976	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr7:140306626-140307967	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140306776..140309175-chr7:140310789..140312888,2	K562	blood:
2	chr7:140301959..140304839-chr7:140305867..140308448,2	MCF-7	breast:

Variant related genes	Relation type
DENND2A	TF binding region
ENSG00000201354	TF binding region
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57916123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59500330	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500413	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500418	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500426	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029128	chr7:140293389-140335570	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140267800-140326000	Weak transcription	Gastric	stomach
2	chr7:140287600-140326000	Weak transcription	Fetal Brain Male	brain
3	chr7:140296000-140326000	Weak transcription	Fetal Heart	heart
4	chr7:140297600-140313600	Weak transcription	Fetal Kidney	kidney
5	chr7:140302200-140326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:140302400-140326200	Weak transcription	Fetal Brain Female	brain
7	chr7:140302800-140326000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:140303800-140310800	Enhancers	NHDF-Ad	bronchial
9	chr7:140304200-140312200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:140304600-140308200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr7:140305000-140307800	Enhancers	Left Ventricle	heart
12	chr7:140305000-140308800	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr7:140305000-140309200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr7:140305200-140308800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:140305200-140308800	Genic enhancers	Fetal Stomach	stomach
16	chr7:140305200-140308800	Enhancers	NHLF	lung
17	chr7:140305200-140309000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:140305400-140310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:140305400-140311200	Genic enhancers	Fetal Muscle Leg	muscle
20	chr7:140305600-140308800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:140305600-140309200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:140305600-140314200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:140305800-140309600	Weak transcription	A549	lung
24	chr7:140306200-140308000	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:140306200-140308000	Enhancers	Brain Hippocampus Middle	brain
26	chr7:140306200-140308000	Enhancers	Brain Substantia Nigra	brain
27	chr7:140306200-140308000	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:140306200-140308400	Enhancers	Stomach Smooth Muscle	stomach
29	chr7:140306400-140307800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr7:140306400-140307800	Enhancers	Placenta	Placenta
31	chr7:140306400-140308000	Enhancers	Brain Angular Gyrus	brain
32	chr7:140306400-140308000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:140306400-140308000	Enhancers	Fetal Lung	lung
34	chr7:140306400-140308400	Enhancers	Colon Smooth Muscle	Colon
35	chr7:140306400-140308800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:140306400-140309000	Enhancers	Adipose Nuclei	Adipose
37	chr7:140306600-140307800	Enhancers	Right Atrium	heart
38	chr7:140306600-140308200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:140306800-140307800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:140306800-140307800	Enhancers	Psoas Muscle	Psoas
41	chr7:140306800-140308000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:140306800-140308000	Enhancers	Duodenum Mucosa	Duodenum
43	chr7:140306800-140308000	Enhancers	Ovary	ovary
44	chr7:140306800-140308200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:140306800-140308200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:140306800-140308200	Enhancers	Right Ventricle	heart
47	chr7:140306800-140308800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:140307000-140307800	Enhancers	Lung	lung
49	chr7:140307000-140307800	Enhancers	HSMMtube	muscle
50	chr7:140307000-140308000	Enhancers	Brain Germinal Matrix	brain

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