Variant report

Variant	rs10518983
Chromosome Location	chr15:58812777-58812778
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	POLR2A	chr15:58812492-58812973	ECC-1	luminal epithelium:	n/a	n/a
2	GATA2	chr15:58812492-58813055	HUVEC	blood vessel:	n/a	chr15:58812613-58812623
3	MAZ	chr15:58812665-58812972	K562	blood:	n/a	chr15:58812836-58812846
4	JUN	chr15:58812635-58814659	K562	blood:	n/a	chr15:58813896-58813907 chr15:58813894-58813904 chr15:58813894-58813904 chr15:58813894-58813904 chr15:58813895-58813902 chr15:58813894-58813904 chr15:58813895-58813903 chr15:58813895-58813903
5	SRF	chr15:58812703-58812987	K562	blood:	n/a	chr15:58812815-58812833 chr15:58812819-58812833 chr15:58812817-58812830 chr15:58812836-58812846 chr15:58812818-58812835 chr15:58812815-58812829
6	POLR2A	chr15:58812646-58813065	K562	blood:	n/a	n/a
7	POLR2A	chr15:58812364-58812995	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58811000..58814506-chr15:58833587..58836863,3	K562	blood:

Variant related genes	Relation type
ENSG00000259476	TF binding region
ENSG00000166035	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10518982	1.00[AMR][1000 genomes]
rs28587801	1.00[AMR][1000 genomes]
rs7163776	1.00[AMR][1000 genomes]
rs7180752	1.00[AMR][1000 genomes]
rs8029629	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv569601	chr15:58800766-58866156	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58798600-58813200	Weak transcription	Aorta	Aorta
2	chr15:58804000-58816200	Weak transcription	Liver	Liver
3	chr15:58806200-58813200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:58806400-58813200	Weak transcription	Pancreas	Pancrea
5	chr15:58807000-58813400	Weak transcription	Fetal Brain Male	brain
6	chr15:58807600-58815400	Enhancers	Fetal Thymus	thymus
7	chr15:58807800-58813400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr15:58807800-58815800	Enhancers	Primary B cells from cord blood	blood
9	chr15:58807800-58820200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:58808400-58813600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:58808400-58816200	Weak transcription	HepG2	liver
12	chr15:58809600-58813600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:58809600-58813600	Weak transcription	Stomach Mucosa	stomach
14	chr15:58809600-58814800	Enhancers	Fetal Stomach	stomach
15	chr15:58809600-58817000	Enhancers	Brain Substantia Nigra	brain
16	chr15:58810000-58813200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:58810000-58813600	Weak transcription	Brain Angular Gyrus	brain
18	chr15:58810200-58813200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr15:58810200-58813400	Weak transcription	HSMMtube	muscle
20	chr15:58810800-58813000	Enhancers	Fetal Kidney	kidney
21	chr15:58811000-58813600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr15:58811200-58815400	Enhancers	GM12878-XiMat	blood
23	chr15:58811400-58813200	Enhancers	Fetal Lung	lung
24	chr15:58811600-58813400	Enhancers	HUVEC	blood vessel
25	chr15:58811600-58815800	Enhancers	Brain Hippocampus Middle	brain
26	chr15:58811800-58812800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:58811800-58813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:58811800-58813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:58811800-58813600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:58811800-58815400	Enhancers	Spleen	Spleen
31	chr15:58811800-58815600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:58811800-58815800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr15:58812000-58812800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr15:58812000-58814400	Enhancers	Brain Cingulate Gyrus	brain
35	chr15:58812000-58815800	Enhancers	Brain Anterior Caudate	brain
36	chr15:58812200-58813000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr15:58812200-58813400	Weak transcription	A549	lung
38	chr15:58812200-58814000	Enhancers	Thymus	Thymus
39	chr15:58812200-58814200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:58812200-58814600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:58812400-58813800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr15:58812400-58814600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr15:58812400-58814600	Enhancers	Primary hematopoietic stem cells	blood
44	chr15:58812400-58814800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr15:58812400-58815800	Enhancers	Fetal Muscle Leg	muscle
46	chr15:58812400-58816000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr15:58812600-58812800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr15:58812600-58812800	Enhancers	Gastric	stomach
49	chr15:58812600-58813000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:58812600-58813000	Flanking Active TSS	Primary T cells from cord blood	blood

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