Variant report

Variant	rs73390482
Chromosome Location	chr12:104461540-104461541
allele	C/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	E2F4	chr12:104461456-104461636	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104457375..104460043-chr12:104460248..104462043,2	K562	blood:

Variant related genes	Relation type
GLT8D2	TF binding region
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17035201	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58005041	1.00[AMR][1000 genomes]
rs73390494	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390498	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392510	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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459200-104463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
4	chr12:104459400-104461800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:104459400-104464000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:104459400-104476600	Weak transcription	Fetal Kidney	kidney
7	chr12:104459600-104461600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:104459600-104462800	Weak transcription	Primary B cells from cord blood	blood
9	chr12:104459600-104464000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:104459600-104476600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:104459600-104476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:104459800-104461800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:104459800-104462400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:104459800-104463000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:104459800-104465000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:104459800-104465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:104459800-104476600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:104459800-104476800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:104459800-104477400	Weak transcription	Gastric	stomach
21	chr12:104459800-104477600	Weak transcription	Small Intestine	intestine
22	chr12:104459800-104477800	Weak transcription	Spleen	Spleen
23	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:104460000-104461600	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:104460000-104461600	Weak transcription	Fetal Thymus	thymus
26	chr12:104460000-104461600	Weak transcription	Right Ventricle	heart
27	chr12:104460000-104462200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:104460000-104462200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:104460000-104462400	Weak transcription	HUVEC	blood vessel
30	chr12:104460000-104463600	Weak transcription	Stomach Mucosa	stomach
31	chr12:104460000-104464800	Weak transcription	A549	lung
32	chr12:104460000-104464800	Weak transcription	HMEC	breast
33	chr12:104460000-104465000	Weak transcription	Ovary	ovary
34	chr12:104460000-104465000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:104460000-104465000	Weak transcription	GM12878-XiMat	blood
36	chr12:104460000-104468400	Strong transcription	Fetal Lung	lung
37	chr12:104460000-104476000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:104460000-104476600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:104460000-104476600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:104460000-104476600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:104460000-104476800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:104460000-104477600	Weak transcription	Aorta	Aorta
43	chr12:104460000-104482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:104460000-104496800	Weak transcription	HepG2	liver
45	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
46	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
47	chr12:104460200-104461600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:104460200-104461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:104460200-104461600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:104460200-104461800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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