Variant report

Variant	rs58471786
Chromosome Location	chr15:52174844-52174845
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52118547..52120941-chr15:52173181..52175406,2	K562	blood:
2	chr15:52121304..52123293-chr15:52174334..52178063,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138594	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2198804	1.00[AMR][1000 genomes]
rs28416491	0.90[ASN][1000 genomes]
rs3751593	1.00[AMR][1000 genomes]
rs3803365	0.86[ASN][1000 genomes]
rs3985808	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56903771	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57897477	1.00[AMR][1000 genomes]
rs58370000	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58601413	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59784585	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60409555	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60700084	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][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	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
2	esv2830255	chr15:52133914-52274863	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52141800-52176200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:52145800-52176600	Weak transcription	Psoas Muscle	Psoas
3	chr15:52148200-52176200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:52153800-52178000	Weak transcription	Brain Germinal Matrix	brain
5	chr15:52155600-52192000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:52156000-52211000	Weak transcription	Brain Substantia Nigra	brain
7	chr15:52157800-52178000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:52161600-52176000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:52163000-52186800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr15:52163200-52184200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr15:52163400-52181400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr15:52163400-52186200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:52165200-52181800	Weak transcription	Esophagus	oesophagus
14	chr15:52165400-52175800	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:52165800-52183600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr15:52167200-52176400	Weak transcription	Aorta	Aorta
17	chr15:52167200-52176600	Weak transcription	Colonic Mucosa	Colon
18	chr15:52167200-52186200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:52167200-52210800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:52167600-52175400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:52167600-52177000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:52167600-52177000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:52167600-52192000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:52167600-52199600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr15:52167800-52176800	Weak transcription	Dnd41	blood
26	chr15:52167800-52181400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:52167800-52188600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:52168200-52183200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:52168400-52176000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:52168600-52188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:52168800-52183800	Weak transcription	Fetal Thymus	thymus
32	chr15:52169200-52179600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:52169400-52179800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:52169800-52181200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr15:52170400-52178000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:52170400-52179800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr15:52170400-52186400	Weak transcription	Thymus	Thymus
38	chr15:52170400-52186600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:52170600-52175800	Weak transcription	Fetal Stomach	stomach
40	chr15:52170600-52175800	Weak transcription	Right Atrium	heart
41	chr15:52170600-52176400	Weak transcription	Gastric	stomach
42	chr15:52170600-52176400	Weak transcription	Spleen	Spleen
43	chr15:52170600-52176800	Weak transcription	GM12878-XiMat	blood
44	chr15:52170600-52178200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:52170600-52181800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:52170600-52184800	Weak transcription	Lung	lung
47	chr15:52170600-52186000	Weak transcription	Left Ventricle	heart
48	chr15:52170800-52176400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr15:52171000-52175800	Weak transcription	Primary B cells from cord blood	blood
50	chr15:52171000-52175800	Weak transcription	Small Intestine	intestine

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