Variant report

Variant	rs72745594
Chromosome Location	chr15:58018873-58018874
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58001236..58004282-chr15:58017419..58020628,3	K562	blood:
2	chr15:58018399..58022376-chr15:58025320..58027375,3	K562	blood:
3	chr15:57997076..58000903-chr15:58016779..58019202,3	K562	blood:
4	chr15:58014537..58017102-chr15:58017984..58021303,3	K562	blood:
5	chr15:58003308..58005192-chr15:58018137..58020325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255529	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11854253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11854731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11857147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11858659	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16977648	0.93[EUR][1000 genomes]
rs28421709	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7181215	0.86[AMR][1000 genomes]
rs72745565	0.83[EUR][1000 genomes]
rs72745568	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72745576	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72745583	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72745586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72747204	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8034567	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv530682	chr15:57912502-58108285	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57999800-58022400	Weak transcription	Esophagus	oesophagus
2	chr15:58005400-58019200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:58005400-58020000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:58006600-58020400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:58006800-58019000	Weak transcription	NHLF	lung
6	chr15:58006800-58025000	Weak transcription	Brain Angular Gyrus	brain
7	chr15:58006800-58029400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:58006800-58037800	Weak transcription	Aorta	Aorta
9	chr15:58007000-58023600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:58007000-58024600	Weak transcription	Brain Substantia Nigra	brain
11	chr15:58007600-58025000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:58007600-58026800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:58007800-58024600	Weak transcription	HUVEC	blood vessel
14	chr15:58007800-58025000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:58010200-58019200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:58010200-58023600	Weak transcription	Fetal Lung	lung
17	chr15:58010800-58024800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:58011200-58023600	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:58011200-58024800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:58011400-58025000	Weak transcription	Adipose Nuclei	Adipose
21	chr15:58011400-58026800	Weak transcription	Thymus	Thymus
22	chr15:58011400-58029800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:58011600-58019400	Weak transcription	Small Intestine	intestine
24	chr15:58011600-58023200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:58012000-58020400	Weak transcription	Brain Anterior Caudate	brain
26	chr15:58012800-58023800	Weak transcription	Left Ventricle	heart
27	chr15:58013000-58025000	Weak transcription	A549	lung
28	chr15:58013200-58029800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:58013400-58026600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:58013400-58030000	Weak transcription	Primary T cells from cord blood	blood
31	chr15:58015800-58023800	Weak transcription	Fetal Intestine Large	intestine
32	chr15:58017200-58025000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:58017400-58023600	Weak transcription	Fetal Kidney	kidney
34	chr15:58017400-58023800	Weak transcription	Fetal Intestine Small	intestine
35	chr15:58017400-58024800	Weak transcription	Liver	Liver
36	chr15:58017600-58027200	Weak transcription	Brain Hippocampus Middle	brain
37	chr15:58018000-58023600	Weak transcription	Fetal Stomach	stomach
38	chr15:58018000-58025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:58018400-58019000	Enhancers	HSMM	muscle
40	chr15:58018400-58019600	Enhancers	Osteobl	bone
41	chr15:58018400-58021000	Enhancers	HMEC	breast
42	chr15:58018600-58019800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:58018600-58020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:58018600-58021000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:58018600-58021200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr15:58018600-58021200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr15:58018800-58019400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:58018800-58019600	Enhancers	HSMMtube	muscle
49	chr15:58018800-58020600	Enhancers	NHEK	skin
50	chr15:58018800-58021000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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