Variant report

Variant	rs73399594
Chromosome Location	chr15:51825567-51825568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:51811820..51813390-chr15:51823988..51825927,2	K562	blood:
2	chr15:51824663..51827027-chr15:51829318..51831016,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16953073	1.00[AMR][1000 genomes]
rs16964415	1.00[AMR][1000 genomes]
rs56822445	1.00[AMR][1000 genomes]
rs73397548	1.00[AMR][1000 genomes]
rs73397550	1.00[AMR][1000 genomes]
rs73397592	1.00[AMR][1000 genomes]
rs73397599	1.00[AMR][1000 genomes]
rs73399515	1.00[AMR][1000 genomes]
rs73399545	1.00[AMR][1000 genomes]
rs73399577	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399588	1.00[AMR][1000 genomes]
rs73401422	1.00[AMR][1000 genomes]
rs74013288	1.00[AMR][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	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv904217	chr15:51695653-51881980	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv904218	chr15:51743186-51873407	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv569405	chr15:51791559-51890282	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51763600-51826800	Weak transcription	Colonic Mucosa	Colon
2	chr15:51776800-51837600	Weak transcription	Fetal Thymus	thymus
3	chr15:51776800-51855200	Weak transcription	Thymus	Thymus
4	chr15:51778400-51825800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:51780400-51855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:51780800-51839000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:51781400-51863000	Weak transcription	HSMM	muscle
8	chr15:51781600-51837000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:51785000-51827400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:51787400-51855400	Weak transcription	Osteobl	bone
11	chr15:51792400-51828600	Weak transcription	K562	blood
12	chr15:51792400-51838400	Weak transcription	HSMMtube	muscle
13	chr15:51794600-51861000	Weak transcription	Gastric	stomach
14	chr15:51809000-51854800	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:51816000-51828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:51816000-51861000	Weak transcription	Pancreas	Pancrea
17	chr15:51817000-51837800	Weak transcription	Brain Substantia Nigra	brain
18	chr15:51817200-51836400	Weak transcription	Aorta	Aorta
19	chr15:51817800-51862200	Weak transcription	Fetal Brain Male	brain
20	chr15:51818200-51826000	Weak transcription	Placenta	Placenta
21	chr15:51818200-51847600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr15:51818200-51855400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:51818200-51861600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:51818400-51853400	Weak transcription	Lung	lung
25	chr15:51818400-51861200	Weak transcription	Fetal Stomach	stomach
26	chr15:51818800-51840200	Weak transcription	Hela-S3	cervix
27	chr15:51819200-51831400	Weak transcription	Fetal Heart	heart
28	chr15:51819200-51838200	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:51819400-51828400	Weak transcription	Brain Angular Gyrus	brain
30	chr15:51819400-51828400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:51819400-51837600	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:51819400-51852600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:51819400-51853400	Weak transcription	Ovary	ovary
34	chr15:51819600-51853400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:51819600-51861400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:51819800-51830800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:51819800-51863000	Weak transcription	Right Ventricle	heart
38	chr15:51820000-51830400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr15:51820400-51828400	Weak transcription	Fetal Intestine Large	intestine
40	chr15:51822000-51849400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr15:51822400-51840000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr15:51822800-51830400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:51823000-51830200	Weak transcription	Primary T cells from cord blood	blood
44	chr15:51823400-51826400	Strong transcription	Adipose Nuclei	Adipose
45	chr15:51823600-51830600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:51823600-51837000	Weak transcription	HMEC	breast
47	chr15:51823800-51829000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:51824000-51825600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:51824000-51826400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr15:51824200-51837000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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