Variant report

Variant	rs60315520
Chromosome Location	chr15:52315304-52315305
allele	-/A
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	chr15:52315273-52315974	GM12878	blood:	n/a	n/a
2	ZNF384	chr15:52315254-52315590	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:52313958..52316321-chr15:52317299..52319618,2	K562	blood:
2	chr15:52262263..52265564-chr15:52309489..52315686,9	K562	blood:
3	chr15:52271865..52274806-chr15:52313995..52316353,2	MCF-7	breast:
4	chr15:52273590..52276860-chr15:52313793..52315606,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259438	TF binding region
MAPK6	TF binding region
ENSG00000166477	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10518674	0.85[ASN][1000 genomes]
rs10851506	0.81[ASN][1000 genomes]
rs11070875	0.82[ASN][1000 genomes]
rs11070876	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11636443	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7177891	0.81[ASN][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	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1536	chr15:52276293-52320919	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv3378759	chr15:52314984-52315359	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52311200-52315800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:52312800-52345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:52313000-52315400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr15:52313000-52315800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:52313200-52315800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr15:52313400-52316400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:52313400-52316400	Enhancers	Brain Cingulate Gyrus	brain
8	chr15:52313400-52317400	Enhancers	Brain Substantia Nigra	brain
9	chr15:52313400-52325400	Weak transcription	Aorta	Aorta
10	chr15:52313600-52315800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:52313600-52316000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr15:52313600-52316400	Enhancers	Brain Hippocampus Middle	brain
13	chr15:52313600-52324800	Weak transcription	Fetal Stomach	stomach
14	chr15:52313600-52325400	Weak transcription	Thymus	Thymus
15	chr15:52313800-52315600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:52313800-52315800	Enhancers	Brain Angular Gyrus	brain
17	chr15:52313800-52316000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:52313800-52329400	Weak transcription	Fetal Heart	heart
19	chr15:52314000-52315400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:52314000-52315600	Enhancers	NH-A	brain
21	chr15:52314000-52315800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:52314000-52315800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:52314000-52315800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr15:52314000-52315800	Enhancers	Stomach Mucosa	stomach
25	chr15:52314000-52316000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr15:52314000-52316000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:52314000-52316000	Enhancers	Stomach Smooth Muscle	stomach
28	chr15:52314000-52320600	Weak transcription	Primary T cells from cord blood	blood
29	chr15:52314200-52315800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr15:52314200-52316000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr15:52314200-52316000	Enhancers	Left Ventricle	heart
32	chr15:52314200-52316400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr15:52314400-52315400	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:52314400-52315400	Flanking Active TSS	NHEK	skin
35	chr15:52314400-52315800	Enhancers	Adipose Nuclei	Adipose
36	chr15:52314400-52315800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr15:52314400-52315800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr15:52314400-52316000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:52314400-52317200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr15:52314400-52325400	Weak transcription	Fetal Lung	lung
41	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
42	chr15:52314600-52315400	Weak transcription	Fetal Intestine Large	intestine
43	chr15:52314600-52315400	Active TSS	GM12878-XiMat	blood
44	chr15:52314600-52315800	Enhancers	Dnd41	blood
45	chr15:52314600-52316000	Enhancers	Psoas Muscle	Psoas
46	chr15:52314600-52316000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr15:52314600-52316400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr15:52314600-52320400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:52314600-52323800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr15:52314600-52325200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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