Variant report

Variant	rs74013220
Chromosome Location	chr15:51764302-51764303
allele	C/T
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	chr15:51764167-51764375	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:51763635..51766471-chr15:51768194..51770498,2	K562	blood:
2	chr15:51489389..51491671-chr15:51763794..51765995,2	MCF-7	breast:
3	chr15:51760855..51763600-chr15:51763782..51766258,3	K562	blood:

Variant related genes	Relation type
DMXL2	TF binding region
ENSG00000104093	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10519310	0.89[ASN][1000 genomes]
rs1599034	1.00[ASN][1000 genomes]
rs16964389	0.89[ASN][1000 genomes]
rs17705035	0.87[AMR][1000 genomes]
rs2271674	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2271676	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3736484	0.96[ASN][1000 genomes]
rs55803403	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56127635	0.89[ASN][1000 genomes]
rs56879579	1.00[ASN][1000 genomes]
rs57860217	0.93[ASN][1000 genomes]
rs61642433	0.84[ASN][1000 genomes]
rs73399525	1.00[ASN][1000 genomes]
rs74013290	0.85[ASN][1000 genomes]
rs8032454	0.80[ASN][1000 genomes]
rs8032713	0.96[ASN][1000 genomes]
rs8038520	1.00[ASN][1000 genomes]
rs977137	0.96[ASN][1000 genomes]
rs9806124	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51737000-51775600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr15:51737000-51776400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:51738200-51784600	Weak transcription	Stomach Mucosa	stomach
4	chr15:51738400-51777400	Weak transcription	Small Intestine	intestine
5	chr15:51739000-51776000	Weak transcription	Gastric	stomach
6	chr15:51740800-51775200	Weak transcription	Pancreas	Pancrea
7	chr15:51742400-51764800	Weak transcription	Primary B cells from cord blood	blood
8	chr15:51742400-51775800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:51742600-51775400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:51742600-51775400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:51742600-51776000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:51742600-51776600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:51742600-51776800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:51743000-51774200	Weak transcription	HMEC	breast
15	chr15:51743000-51775200	Weak transcription	HSMMtube	muscle
16	chr15:51743000-51780200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:51743600-51769600	Weak transcription	HSMM	muscle
18	chr15:51748000-51776400	Weak transcription	Right Ventricle	heart
19	chr15:51748200-51774400	Weak transcription	Fetal Heart	heart
20	chr15:51749000-51776600	Weak transcription	Fetal Kidney	kidney
21	chr15:51749200-51772800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:51749200-51775400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:51749200-51777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:51749600-51765200	Weak transcription	Thymus	Thymus
25	chr15:51749600-51775000	Weak transcription	Fetal Intestine Small	intestine
26	chr15:51750400-51770000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:51750400-51775400	Weak transcription	Brain Substantia Nigra	brain
28	chr15:51750800-51776200	Weak transcription	NHDF-Ad	bronchial
29	chr15:51750800-51776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:51750800-51777400	Weak transcription	Osteobl	bone
31	chr15:51751000-51776200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:51751000-51777400	Weak transcription	NHLF	lung
33	chr15:51751200-51777200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:51751600-51764400	Weak transcription	Fetal Brain Male	brain
35	chr15:51751800-51772000	Weak transcription	Brain Angular Gyrus	brain
36	chr15:51751800-51775200	Weak transcription	Fetal Lung	lung
37	chr15:51751800-51776400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:51751800-51777400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:51752000-51775000	Weak transcription	Ovary	ovary
40	chr15:51752600-51772400	Weak transcription	K562	blood
41	chr15:51754400-51777400	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:51758200-51772000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:51759800-51769200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr15:51761200-51764400	Strong transcription	Adipose Nuclei	Adipose
45	chr15:51762000-51769000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:51762000-51769000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr15:51762400-51766200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:51762400-51773400	Weak transcription	GM12878-XiMat	blood
49	chr15:51762800-51775000	Weak transcription	Fetal Stomach	stomach
50	chr15:51763000-51768200	Weak transcription	Primary hematopoietic stem cells	blood

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