Variant report

Variant	rs74015761
Chromosome Location	chr15:52046670-52046671
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	SPI1	chr15:52046463-52046814	HL-60	blood:	n/a	chr15:52046651-52046660
2	RUNX3	chr15:52046438-52046771	GM12878	blood:	n/a	n/a
3	SPI1	chr15:52046338-52046902	HL-60	blood:	n/a	chr15:52046651-52046660

No.	Distal block	Cell Line	Cell type
1	chr15:52046348..52048954-chr15:52084849..52087226,2	K562	blood:
2	chr15:51997400..52000250-chr15:52046573..52049240,2	MCF-7	breast:
3	chr15:52018406..52020693-chr15:52046360..52048618,2	K562	blood:
4	chr15:52028579..52031295-chr15:52046217..52050933,5	MCF-7	breast:

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

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10519323	0.82[AMR][1000 genomes]
rs12442283	0.82[AMR][1000 genomes]
rs1350173	0.87[EUR][1000 genomes]
rs16953082	0.86[EUR][1000 genomes]
rs16964486	0.86[EUR][1000 genomes]
rs16964488	0.83[EUR][1000 genomes]
rs16964505	0.91[EUR][1000 genomes]
rs16964506	0.91[EUR][1000 genomes]
rs16964507	0.91[EUR][1000 genomes]
rs16964508	0.91[EUR][1000 genomes]
rs16964510	0.91[EUR][1000 genomes]
rs16964518	0.91[EUR][1000 genomes]
rs16964528	0.93[EUR][1000 genomes]
rs16964532	0.86[EUR][1000 genomes]
rs16964555	0.81[EUR][1000 genomes]
rs16964561	0.81[EUR][1000 genomes]
rs16964579	0.81[EUR][1000 genomes]
rs16964585	0.81[EUR][1000 genomes]
rs16964596	0.81[EUR][1000 genomes]
rs17649047	0.82[AMR][1000 genomes]
rs17705373	0.93[EUR][1000 genomes]
rs17705530	0.84[AMR][1000 genomes]
rs17705685	0.84[AMR][1000 genomes]
rs2414118	0.82[AMR][1000 genomes]
rs2570232	0.80[EUR][1000 genomes]
rs2623256	0.80[EUR][1000 genomes]
rs3751595	0.86[EUR][1000 genomes]
rs3794529	0.98[EUR][1000 genomes]
rs3794533	0.84[AMR][1000 genomes]
rs4774601	0.84[AMR][1000 genomes]
rs4775971	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4775979	0.84[AMR][1000 genomes]
rs56221158	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60398357	0.83[EUR][1000 genomes]
rs7165594	0.86[EUR][1000 genomes]
rs7166954	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7167759	0.86[EUR][1000 genomes]
rs7173661	0.84[AMR][1000 genomes]
rs7174616	0.83[EUR][1000 genomes]
rs7175121	0.83[EUR][1000 genomes]
rs7179971	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7180093	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73405349	0.83[EUR][1000 genomes]
rs73405355	0.83[EUR][1000 genomes]
rs73405356	0.83[EUR][1000 genomes]
rs73405364	0.85[EUR][1000 genomes]
rs73405388	0.87[EUR][1000 genomes]
rs7342575	0.98[EUR][1000 genomes]
rs74015721	0.83[EUR][1000 genomes]
rs74015757	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7496198	0.83[EUR][1000 genomes]
rs8024441	0.84[AMR][1000 genomes]
rs8026507	0.82[AMR][1000 genomes]
rs8027426	0.82[AMR][1000 genomes]
rs8036648	0.86[EUR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52044400-52050800	Weak transcription	Gastric	stomach
2	chr15:52044600-52046800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr15:52044600-52060000	Weak transcription	Esophagus	oesophagus
4	chr15:52044600-52060200	Weak transcription	Aorta	Aorta
5	chr15:52044800-52046800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr15:52044800-52047600	Weak transcription	Placenta	Placenta
7	chr15:52044800-52047600	Weak transcription	Lung	lung
8	chr15:52044800-52047800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:52044800-52049800	Weak transcription	Psoas Muscle	Psoas
10	chr15:52044800-52050600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:52044800-52051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:52044800-52051000	Weak transcription	Right Ventricle	heart
13	chr15:52044800-52060000	Weak transcription	Spleen	Spleen
14	chr15:52045000-52046800	Enhancers	Fetal Thymus	thymus
15	chr15:52045000-52047000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:52045000-52049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:52045000-52049800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:52045000-52050600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr15:52045000-52050800	Weak transcription	HMEC	breast
20	chr15:52045000-52060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:52045200-52047400	Enhancers	Primary T cells from cord blood	blood
22	chr15:52045200-52047600	Enhancers	Dnd41	blood
23	chr15:52045200-52048200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:52045200-52049800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:52045200-52050600	Weak transcription	Brain Germinal Matrix	brain
26	chr15:52045200-52053400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr15:52045400-52047600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:52045400-52048600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:52045400-52050400	Weak transcription	Fetal Brain Female	brain
30	chr15:52045400-52050600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:52045400-52050600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:52045400-52051000	Weak transcription	Left Ventricle	heart
33	chr15:52045600-52047600	Weak transcription	Right Atrium	heart
34	chr15:52045600-52047600	Weak transcription	K562	blood
35	chr15:52045600-52048200	Weak transcription	Adipose Nuclei	Adipose
36	chr15:52045600-52049800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:52045600-52050600	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:52045800-52046800	Enhancers	Brain Cingulate Gyrus	brain
39	chr15:52045800-52047600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:52045800-52048000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr15:52045800-52049800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:52045800-52053200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:52046000-52047400	Weak transcription	Brain Anterior Caudate	brain
44	chr15:52046000-52047400	Weak transcription	Brain Hippocampus Middle	brain
45	chr15:52046000-52050400	Weak transcription	Fetal Brain Male	brain
46	chr15:52046200-52046800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:52046400-52046800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr15:52046400-52046800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr15:52046400-52047000	Weak transcription	Primary B cells from cord blood	blood
50	chr15:52046400-52047000	Enhancers	Pancreatic Islets	Pancreatic Islet

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