Variant report

Variant	rs73822571
Chromosome Location	chr3:28334170-28334171
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	CEBPB	chr3:28334143-28334503	K562	blood:	n/a	n/a
2	CEBPB	chr3:28334128-28334493	IMR90	lung:	n/a	n/a
3	CEBPB	chr3:28334132-28334495	A549	lung:	n/a	n/a
4	CEBPB	chr3:28334130-28334498	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:28334115-28334436	MCF-7	breast:	n/a	n/a
6	CEBPB	chr3:28334149-28334487	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:28330659..28335850-chr3:28336340..28340116,5	K562	blood:
2	chr3:28327412..28329270-chr3:28333865..28335490,2	K562	blood:

Variant related genes	Relation type
CMC1	TF binding region
ENSG00000187118	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11916224	0.85[AMR][1000 genomes]
rs60023459	0.85[AMR][1000 genomes]
rs61588415	0.85[AMR][1000 genomes]
rs73822569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73822575	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73825125	0.85[AMR][1000 genomes]
rs73825129	0.85[AMR][1000 genomes]
rs73825132	0.85[AMR][1000 genomes]
rs73825133	0.85[AMR][1000 genomes]
rs73825137	0.85[AMR][1000 genomes]
rs73825138	0.85[AMR][1000 genomes]
rs7628073	0.85[AMR][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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28303600-28340600	Weak transcription	NHEK	skin
2	chr3:28306600-28335800	Weak transcription	Hela-S3	cervix
3	chr3:28309000-28336600	Weak transcription	HUVEC	blood vessel
4	chr3:28314400-28365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:28314800-28343400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:28315000-28363000	Weak transcription	A549	lung
7	chr3:28317400-28337200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:28317600-28337000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:28317600-28337000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:28317600-28337200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:28317600-28337600	Weak transcription	Fetal Intestine Large	intestine
12	chr3:28317600-28341200	Weak transcription	Fetal Thymus	thymus
13	chr3:28317600-28380000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:28317600-28389400	Weak transcription	Esophagus	oesophagus
15	chr3:28317800-28337200	Weak transcription	Fetal Intestine Small	intestine
16	chr3:28317800-28343000	Weak transcription	HepG2	liver
17	chr3:28322000-28336600	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:28322600-28336400	Weak transcription	NHLF	lung
19	chr3:28322600-28340200	Weak transcription	Small Intestine	intestine
20	chr3:28326400-28365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:28328200-28337000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:28328200-28340800	Weak transcription	Fetal Heart	heart
23	chr3:28328800-28336200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:28328800-28336400	Weak transcription	NHDF-Ad	bronchial
25	chr3:28331800-28336400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:28332000-28337200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:28332600-28337200	Weak transcription	Ovary	ovary
28	chr3:28332600-28339000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:28332600-28341400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:28332800-28336000	Weak transcription	Dnd41	blood
31	chr3:28332800-28336400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr3:28332800-28336400	Weak transcription	Adipose Nuclei	Adipose
33	chr3:28332800-28336400	Weak transcription	K562	blood
34	chr3:28332800-28336600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:28332800-28336600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:28332800-28336600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:28332800-28336600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:28332800-28337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:28332800-28337000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:28332800-28337000	Weak transcription	Primary T cells from cord blood	blood
41	chr3:28332800-28337000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:28332800-28337000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr3:28332800-28337000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:28332800-28337000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr3:28332800-28337200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:28332800-28337200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:28332800-28337200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:28332800-28337600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr3:28332800-28340200	Weak transcription	Lung	lung
50	chr3:28332800-28341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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