Variant report

Variant	rs73425902
Chromosome Location	chr7:120482678-120482679
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	EBF1	chr7:120482052-120482706	GM12878	blood:	n/a	n/a
2	KAP1	chr7:120482004-120482692	HEK293	kidney:	n/a	n/a
3	ZNF384	chr7:120482134-120482757	GM12878	blood:	n/a	n/a
4	KAP1	chr7:120482091-120482723	U2OS	brain:	n/a	n/a
5	TCF7L2	chr7:120482098-120482707	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120477180..120479176-chr7:120481031..120482823,2	K562	blood:
2	chr7:120475241..120477501-chr7:120481801..120483425,2	MCF-7	breast:

Variant related genes	Relation type
TSPAN12	TF binding region
ENSG00000106025	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2525707	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28525210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425886	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427829	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427832	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427838	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427841	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427843	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427847	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427848	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427851	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427852	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427854	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427859	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427885	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429812	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429815	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429821	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429825	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429845	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:120445200-120494400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:120468600-120483200	Weak transcription	Right Ventricle	heart
4	chr7:120468600-120487600	Weak transcription	Lung	lung
5	chr7:120470600-120484600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:120474000-120492400	Weak transcription	Fetal Lung	lung
7	chr7:120474000-120496400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:120474600-120496600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:120476400-120484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:120476600-120492400	Weak transcription	Gastric	stomach
11	chr7:120477000-120489800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:120477000-120492400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:120477200-120496200	Weak transcription	Aorta	Aorta
14	chr7:120478000-120483400	Weak transcription	Fetal Stomach	stomach
15	chr7:120478000-120483400	Weak transcription	Left Ventricle	heart
16	chr7:120478400-120487400	Weak transcription	Colonic Mucosa	Colon
17	chr7:120478800-120483200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:120479400-120484000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:120479400-120488000	Weak transcription	Right Atrium	heart
20	chr7:120479600-120494000	Weak transcription	HUVEC	blood vessel
21	chr7:120480000-120488000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:120480200-120485000	Weak transcription	Fetal Heart	heart
23	chr7:120481000-120482800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:120481200-120482800	Enhancers	Liver	Liver
25	chr7:120481200-120482800	Enhancers	Stomach Mucosa	stomach
26	chr7:120481400-120483200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:120481800-120482800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:120481800-120482800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:120481800-120482800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:120482000-120482800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:120482000-120482800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:120482000-120483000	Enhancers	Colon Smooth Muscle	Colon
33	chr7:120482000-120484200	Genic enhancers	Fetal Kidney	kidney
34	chr7:120482200-120482800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:120482200-120482800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:120482200-120483000	Genic enhancers	Duodenum Mucosa	Duodenum
37	chr7:120482200-120483200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:120482200-120483400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:120482200-120483600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:120482200-120483600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:120482200-120483800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:120482200-120483800	Enhancers	Pancreas	Pancrea
43	chr7:120482400-120482800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr7:120482400-120482800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr7:120482400-120482800	Enhancers	Rectal Smooth Muscle	rectum
46	chr7:120482400-120482800	Enhancers	Small Intestine	intestine
47	chr7:120482400-120484600	Strong transcription	Fetal Intestine Large	intestine
48	chr7:120482400-120484600	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:120482600-120482800	Genic enhancers	Fetal Intestine Small	intestine
50	chr7:120482600-120483400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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