Variant report

Variant	rs73491632
Chromosome Location	chr7:140374305-140374306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr7:140374147-140374539	GM12878	blood:	n/a	n/a
2	ZEB1	chr7:140374171-140374619	GM12878	blood:	n/a	chr7:140374434-140374443
3	ZEB1	chr7:140374266-140374555	GM12878	blood:	n/a	chr7:140374434-140374443
4	SPI1	chr7:140374112-140374547	HL-60	blood:	n/a	n/a
5	BHLHE40	chr7:140374122-140374539	GM12878	blood:	n/a	n/a
6	TCF3	chr7:140374101-140374611	GM12878	blood:	n/a	n/a
7	EP300	chr7:140374046-140374386	GM12878	blood:	n/a	n/a
8	MTA3	chr7:140372943-140374693	GM12878	blood:	n/a	n/a
9	SPI1	chr7:140374167-140374431	K562	blood:	n/a	n/a
10	SPI1	chr7:140374053-140374585	GM12891	blood:	n/a	n/a
11	SPI1	chr7:140374086-140374496	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:140372379-140374681	Raji	blood:	n/a	n/a
13	RCOR1	chr7:140374114-140374566	GM12878	blood:	n/a	n/a
14	RUNX3	chr7:140373846-140374567	GM12878	blood:	n/a	n/a
15	EBF1	chr7:140374219-140374481	GM12878	blood:	n/a	n/a
16	SPI1	chr7:140374029-140374797	GM12878	blood:	n/a	n/a
17	JUND	chr7:140374291-140374475	K562	blood:	n/a	n/a
18	POLR2A	chr7:140373128-140374446	K562	blood:	n/a	n/a
19	TCF12	chr7:140374171-140374572	GM12878	blood:	n/a	n/a
20	SPI1	chr7:140374110-140374617	GM12891	blood:	n/a	n/a
21	RELA	chr7:140373325-140374592	GM18951	blood:	n/a	n/a
22	RUNX3	chr7:140373975-140374390	GM12878	blood:	n/a	n/a
23	SPI1	chr7:140374167-140374460	GM12878	blood:	n/a	n/a
24	TCF3	chr7:140374189-140374505	GM12878	blood:	n/a	n/a
25	EP300	chr7:140374165-140374557	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140372637..140375611-chr7:140394231..140397834,5	K562	blood:
2	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
3	chr7:140372831..140374417-chr7:140400299..140402616,2	MCF-7	breast:
4	chr7:140371506..140376729-chr7:140377280..140380130,6	K562	blood:
5	chr7:140371193..140374993-chr7:140376654..140380151,6	MCF-7	breast:
6	chr7:140177294..140179711-chr7:140373712..140375545,2	K562	blood:
7	chr7:140370275..140375389-chr7:140393210..140401279,16	MCF-7	breast:

No data

Variant related genes	Relation type
DENND2A	TF binding region
ADCK2	TF binding region
ENSG00000133597	Chromatin interaction
ENSG00000133606	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55815432	0.87[AMR][1000 genomes]
rs61201681	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6464932	1.00[AMR][1000 genomes]
rs73505643	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73736519	0.87[AFR][1000 genomes];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	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140372400-140374400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:140372600-140375800	Enhancers	Fetal Brain Male	brain
3	chr7:140373000-140374400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr7:140373000-140374600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr7:140373000-140375400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:140373200-140374400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:140373200-140374400	Flanking Active TSS	Colonic Mucosa	Colon
8	chr7:140373200-140374400	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr7:140373200-140374400	Flanking Active TSS	HMEC	breast
10	chr7:140373200-140374600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:140373200-140374600	Flanking Active TSS	GM12878-XiMat	blood
12	chr7:140373200-140374800	Flanking Active TSS	Dnd41	blood
13	chr7:140373400-140374400	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr7:140373400-140374400	Flanking Active TSS	Fetal Brain Female	brain
15	chr7:140373400-140374600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:140373400-140374600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr7:140373400-140374800	Enhancers	Fetal Heart	heart
18	chr7:140373400-140383200	Weak transcription	HSMMtube	muscle
19	chr7:140373600-140374400	Enhancers	Spleen	Spleen
20	chr7:140373600-140374600	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr7:140373600-140374600	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr7:140373600-140374600	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr7:140373600-140374600	Enhancers	Lung	lung
24	chr7:140373600-140374600	Enhancers	HUVEC	blood vessel
25	chr7:140373600-140374600	Flanking Active TSS	NHDF-Ad	bronchial
26	chr7:140373600-140374800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:140373600-140374800	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr7:140373600-140374800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:140373600-140375400	Enhancers	Hela-S3	cervix
30	chr7:140373600-140377800	Enhancers	Primary B cells from cord blood	blood
31	chr7:140373600-140385400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:140373800-140374400	Enhancers	Primary hematopoietic stem cells	blood
33	chr7:140373800-140374400	Enhancers	Liver	Liver
34	chr7:140373800-140374400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr7:140373800-140374400	Enhancers	Small Intestine	intestine
36	chr7:140373800-140374400	Enhancers	HepG2	liver
37	chr7:140373800-140374600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:140373800-140374600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:140373800-140374600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:140373800-140374600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr7:140373800-140374600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:140373800-140374600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:140373800-140374600	Enhancers	Aorta	Aorta
44	chr7:140373800-140374600	Enhancers	Fetal Muscle Leg	muscle
45	chr7:140373800-140374600	Enhancers	Right Ventricle	heart
46	chr7:140373800-140374600	Enhancers	HSMM	muscle
47	chr7:140373800-140374800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:140373800-140374800	Enhancers	Stomach Mucosa	stomach
49	chr7:140373800-140374800	Enhancers	Thymus	Thymus
50	chr7:140373800-140375000	Enhancers	Fetal Thymus	thymus

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