Variant report

Variant	rs73716462
Chromosome Location	chr7:104607465-104607466
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	NR2F2	chr7:104607398-104607975	K562	blood:	n/a	n/a
2	RCOR1	chr7:104607446-104608098	K562	blood:	n/a	n/a
3	PML	chr7:104607401-104607990	K562	blood:	n/a	n/a
4	CEBPD	chr7:104607428-104608077	K562	blood:	n/a	n/a
5	TRIM28	chr7:104607463-104608050	K562	blood:	n/a	n/a
6	CEBPD	chr7:104607447-104608074	K562	blood:	n/a	n/a
7	TEAD4	chr7:104607277-104608078	K562	blood:	n/a	n/a
8	TEAD4	chr7:104607404-104608000	K562	blood:	n/a	n/a
9	STAT5A	chr7:104607461-104608011	K562	blood:	n/a	chr7:104607837-104607845
10	GATA2	chr7:104607443-104608029	K562	blood:	n/a	chr7:104607714-104607721 chr7:104607714-104607724 chr7:104607703-104607720
11	GATA1	chr7:104607427-104608527	K562	blood:	n/a	chr7:104608394-104608401 chr7:104608394-104608401 chr7:104608394-104608401 chr7:104607714-104607721 chr7:104607714-104607724 chr7:104608390-104608406 chr7:104608393-104608403 chr7:104608395-104608412 chr7:104607703-104607720
12	EP300	chr7:104607420-104608081	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104601811..104603786-chr7:104606553..104608105,2	MCF-7	breast:
2	chr7:104606573..104608239-chr7:104652614..104654658,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251911	TF binding region
ENSG00000005483	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000228393	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55715849	1.00[AMR][1000 genomes]
rs56162214	1.00[AMR][1000 genomes]
rs56361562	1.00[AMR][1000 genomes]
rs56890093	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56966676	1.00[AMR][1000 genomes]
rs57051326	1.00[AMR][1000 genomes]
rs57160311	1.00[AMR][1000 genomes]
rs57402653	1.00[AMR][1000 genomes]
rs58404848	1.00[AMR][1000 genomes]
rs60436179	1.00[AMR][1000 genomes]
rs61102011	1.00[AMR][1000 genomes]
rs61285225	1.00[AMR][1000 genomes]
rs73421710	1.00[AMR][1000 genomes]
rs73715406	1.00[AMR][1000 genomes]
rs73716461	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716469	1.00[AMR][1000 genomes]
rs73716471	1.00[AMR][1000 genomes]
rs73717956	1.00[AMR][1000 genomes]
rs73717964	1.00[AMR][1000 genomes]
rs73718215	1.00[AMR][1000 genomes]
rs73718216	1.00[AMR][1000 genomes]
rs73718217	1.00[AMR][1000 genomes]
rs73718218	1.00[AMR][1000 genomes]
rs73718222	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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104584600-104619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104587200-104623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:104597200-104608200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:104598000-104619800	Weak transcription	Primary T cells from cord blood	blood
5	chr7:104598000-104621600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:104598200-104611600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:104598200-104620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:104598200-104621400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:104598200-104623000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:104598400-104607600	Weak transcription	HSMM	muscle
11	chr7:104599000-104617200	Weak transcription	Gastric	stomach
12	chr7:104601800-104622800	Weak transcription	Thymus	Thymus
13	chr7:104602600-104614400	Weak transcription	Placenta	Placenta
14	chr7:104602800-104608600	Enhancers	K562	blood
15	chr7:104603000-104608400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr7:104603200-104612200	Weak transcription	Colonic Mucosa	Colon
17	chr7:104603400-104607600	Weak transcription	Small Intestine	intestine
18	chr7:104604200-104610200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:104604600-104607600	Weak transcription	Lung	lung
20	chr7:104604600-104608000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:104604600-104609200	Weak transcription	Adipose Nuclei	Adipose
22	chr7:104604600-104620200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:104604800-104607800	Weak transcription	NH-A	brain
24	chr7:104604800-104608000	Weak transcription	Right Atrium	heart
25	chr7:104604800-104611800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:104604800-104612200	Weak transcription	Esophagus	oesophagus
27	chr7:104604800-104612200	Weak transcription	Spleen	Spleen
28	chr7:104604800-104612400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:104604800-104613200	Weak transcription	Left Ventricle	heart
30	chr7:104604800-104614000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:104604800-104617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:104605000-104616800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:104605200-104607600	Weak transcription	NHLF	lung
34	chr7:104605200-104609000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:104605200-104614000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:104605400-104607600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:104605400-104607800	Weak transcription	Aorta	Aorta
38	chr7:104605400-104607800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:104605400-104607800	Weak transcription	Fetal Intestine Large	intestine
40	chr7:104605400-104607800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:104605400-104611800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:104605400-104611800	Weak transcription	HMEC	breast
43	chr7:104605400-104614400	Weak transcription	Fetal Kidney	kidney
44	chr7:104605600-104607600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:104605600-104607800	Weak transcription	Fetal Intestine Small	intestine
46	chr7:104605600-104608000	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:104605600-104608000	Weak transcription	Stomach Mucosa	stomach
48	chr7:104605600-104614000	Weak transcription	Fetal Stomach	stomach
49	chr7:104605800-104607600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:104606200-104608400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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