Variant report

Variant	rs74015764
Chromosome Location	chr15:52048654-52048655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr15:52048594-52048716	K562	blood:	n/a	n/a
2	CEBPB	chr15:52048597-52049045	K562	blood:	n/a	n/a
3	CTCF	chr15:52048620-52048770	HPF	lung:	n/a	n/a
4	GATA3	chr15:52048618-52048951	T-47D	breast:	n/a	n/a
5	CTCF	chr15:52048580-52048730	NB4	blood:	n/a	n/a
6	SPI1	chr15:52048610-52049152	HL-60	blood:	n/a	chr15:52048918-52048931

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52047517..52051526-chr15:52055116..52057120,3	K562	blood:
2	chr15:52043733..52046292-chr15:52047210..52050045,3	MCF-7	breast:
3	chr15:52027911..52030761-chr15:52046678..52049036,2	K562	blood:
4	chr15:52043149..52046754-chr15:52046824..52050469,4	K562	blood:
5	chr15:52046348..52048954-chr15:52084849..52087226,2	K562	blood:
6	chr15:51997400..52000250-chr15:52046573..52049240,2	MCF-7	breast:
7	chr15:52028579..52031295-chr15:52046217..52050933,5	MCF-7	breast:
8	chr15:52042908..52046919-chr15:52047131..52052382,6	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCG3-1	chr15:52048510-52048672	ENSG00000259377.1

No data

Variant related genes	Relation type
LYSMD2	TF binding region
ENSG00000140280	Chromatin interaction
ENSG00000128872	Chromatin interaction
ENSG00000259377	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10450960	1.00[AMR][1000 genomes]
rs35982081	1.00[AMR][1000 genomes]
rs55712231	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58041881	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59580277	1.00[AMR][1000 genomes]
rs59946322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015720	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015723	1.00[AMR][1000 genomes]
rs74015725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015728	1.00[AMR][1000 genomes]
rs74015729	1.00[AMR][1000 genomes]
rs74015758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015760	1.00[AMR][1000 genomes]
rs74015762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015768	0.87[AFR][1000 genomes];1.00[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	esv2830011	chr15:52027777-52048710	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
2	nsv569409	chr15:52028914-52268144	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52044400-52050800	Weak transcription	Gastric	stomach
2	chr15:52044600-52060000	Weak transcription	Esophagus	oesophagus
3	chr15:52044600-52060200	Weak transcription	Aorta	Aorta
4	chr15:52044800-52049800	Weak transcription	Psoas Muscle	Psoas
5	chr15:52044800-52050600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:52044800-52051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:52044800-52051000	Weak transcription	Right Ventricle	heart
8	chr15:52044800-52060000	Weak transcription	Spleen	Spleen
9	chr15:52045000-52049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:52045000-52049800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:52045000-52050600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:52045000-52050800	Weak transcription	HMEC	breast
13	chr15:52045000-52060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:52045200-52049800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:52045200-52050600	Weak transcription	Brain Germinal Matrix	brain
16	chr15:52045200-52053400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:52045400-52050400	Weak transcription	Fetal Brain Female	brain
18	chr15:52045400-52050600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:52045400-52050600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr15:52045400-52051000	Weak transcription	Left Ventricle	heart
21	chr15:52045600-52049800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:52045600-52050600	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:52045800-52049800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:52045800-52053200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:52046000-52050400	Weak transcription	Fetal Brain Male	brain
26	chr15:52046400-52049200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:52046800-52060000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr15:52047000-52049400	Enhancers	Primary B cells from cord blood	blood
29	chr15:52047000-52052400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:52047200-52048800	Enhancers	Fetal Thymus	thymus
31	chr15:52047200-52053600	Enhancers	Brain Cingulate Gyrus	brain
32	chr15:52047400-52049200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:52047400-52049200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr15:52047400-52050800	Enhancers	Brain Anterior Caudate	brain
35	chr15:52047400-52050800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr15:52047400-52050800	Enhancers	Brain Substantia Nigra	brain
37	chr15:52047400-52053600	Enhancers	Brain Hippocampus Middle	brain
38	chr15:52047600-52048800	Enhancers	Right Atrium	heart
39	chr15:52047600-52049000	Enhancers	Brain Angular Gyrus	brain
40	chr15:52048000-52048800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr15:52048000-52049000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr15:52048000-52050800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:52048000-52050800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:52048000-52058000	Weak transcription	Primary T cells from cord blood	blood
45	chr15:52048200-52048800	Enhancers	Primary hematopoietic stem cells	blood
46	chr15:52048200-52048800	Enhancers	Adipose Nuclei	Adipose
47	chr15:52048200-52050600	Weak transcription	Fetal Intestine Small	intestine
48	chr15:52048200-52060000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:52048200-52060200	Weak transcription	Thymus	Thymus
50	chr15:52048400-52050800	Weak transcription	Lung	lung

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