Variant report

Variant	rs4531678
Chromosome Location	chr15:59287953-59287954
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:59287060..59290371-chr15:59290722..59294803,5	K562	blood:
2	chr15:59283452..59285421-chr15:59287409..59290074,2	K562	blood:
3	chr15:59287410..59289323-chr15:59293303..59295381,3	K562	blood:
4	chr15:59278480..59283814-chr15:59285874..59290996,8	MCF-7	breast:
5	chr15:59270453..59272806-chr15:59287808..59289576,2	K562	blood:
6	chr15:59280132..59282499-chr15:59287037..59289414,3	K562	blood:
7	chr15:59279356..59283198-chr15:59286618..59290132,4	K562	blood:
8	chr15:59285878..59288582-chr15:59291111..59293120,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157450	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12438128	0.86[EUR][1000 genomes]
rs1665049	0.80[EUR][1000 genomes]
rs8028752	0.86[EUR][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	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59280800-59295200	Weak transcription	Gastric	stomach
2	chr15:59280800-59308800	Weak transcription	Esophagus	oesophagus
3	chr15:59280800-59327800	Weak transcription	Small Intestine	intestine
4	chr15:59281000-59292400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:59281400-59294800	Weak transcription	Psoas Muscle	Psoas
7	chr15:59281400-59305800	Weak transcription	Brain Substantia Nigra	brain
8	chr15:59281400-59323200	Weak transcription	Ovary	ovary
9	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
10	chr15:59281600-59311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:59281800-59297800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
13	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:59282000-59305800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:59282000-59323000	Weak transcription	Fetal Lung	lung
16	chr15:59282000-59323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr15:59282000-59323200	Weak transcription	Fetal Kidney	kidney
18	chr15:59282400-59288800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:59282400-59290600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:59282400-59291000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr15:59282400-59296800	Weak transcription	NH-A	brain
22	chr15:59282400-59297400	Weak transcription	HMEC	breast
23	chr15:59282400-59305400	Weak transcription	Fetal Heart	heart
24	chr15:59282400-59308600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:59282400-59323200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:59282400-59323400	Weak transcription	NHLF	lung
27	chr15:59282600-59288800	Strong transcription	Fetal Intestine Small	intestine
28	chr15:59282600-59297600	Weak transcription	NHDF-Ad	bronchial
29	chr15:59282600-59306400	Weak transcription	Brain Angular Gyrus	brain
30	chr15:59282800-59292600	Weak transcription	Left Ventricle	heart
31	chr15:59282800-59297200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:59283600-59296200	Weak transcription	HepG2	liver
33	chr15:59283600-59305600	Weak transcription	Stomach Mucosa	stomach
34	chr15:59283800-59288400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:59283800-59291400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:59283800-59291800	Weak transcription	Primary B cells from cord blood	blood
37	chr15:59283800-59291800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr15:59283800-59292000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:59283800-59295000	Weak transcription	Primary T cells from cord blood	blood
40	chr15:59283800-59296400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr15:59283800-59297200	Weak transcription	NHEK	skin
42	chr15:59283800-59305600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr15:59283800-59313400	Weak transcription	Right Atrium	heart
44	chr15:59283800-59329000	Weak transcription	Pancreas	Pancrea
45	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
47	chr15:59284000-59288600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:59284000-59290800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr15:59284000-59291000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:59284000-59296600	Weak transcription	Rectal Mucosa Donor 29	rectum

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