Variant report

Variant	rs72731585
Chromosome Location	chr14:69309128-69309129
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	CTCF	chr14:69309060-69309210	GM12864	blood:	n/a	n/a
2	POLR2A	chr14:69308402-69313986	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69257443..69263267-chr14:69305982..69312258,9	MCF-7	breast:
2	chr14:69259380..69263857-chr14:69306830..69310059,5	MCF-7	breast:

Variant related genes	Relation type
RN7SL224P	TF binding region
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12587831	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12590165	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1898320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs194742	0.93[EUR][1000 genomes]
rs72731567	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731576	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731577	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731579	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72731581	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731587	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902071	chr14:69288432-69328594	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv902072	chr14:69288432-69329149	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2755940	chr14:69301705-69318262	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69303200-69310000	Weak transcription	Ovary	ovary
2	chr14:69305400-69310000	Weak transcription	Right Ventricle	heart
3	chr14:69305800-69310200	Weak transcription	Lung	lung
4	chr14:69305800-69310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:69306400-69310200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:69306400-69310600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:69306400-69331200	Weak transcription	Aorta	Aorta
8	chr14:69307200-69310800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:69307400-69309200	Enhancers	HUVEC	blood vessel
10	chr14:69307400-69310200	Enhancers	Colon Smooth Muscle	Colon
11	chr14:69307400-69310400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:69307400-69311200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:69307600-69309800	Enhancers	NH-A	brain
14	chr14:69307600-69310200	Enhancers	Rectal Smooth Muscle	rectum
15	chr14:69307600-69310400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:69307800-69310000	Weak transcription	Left Ventricle	heart
17	chr14:69307800-69310200	Weak transcription	GM12878-XiMat	blood
18	chr14:69307800-69320400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:69307800-69331000	Weak transcription	HSMMtube	muscle
20	chr14:69308000-69310200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr14:69308000-69310400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:69308000-69310800	Enhancers	Fetal Lung	lung
23	chr14:69308200-69310400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:69308200-69310400	Enhancers	Fetal Stomach	stomach
25	chr14:69308400-69309200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:69308400-69309200	Weak transcription	Esophagus	oesophagus
27	chr14:69308400-69309200	Genic enhancers	HSMM	muscle
28	chr14:69308400-69310400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:69308400-69310400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:69308400-69310400	Weak transcription	Primary T cells from cord blood	blood
31	chr14:69308400-69310400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:69308400-69310400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:69308400-69310400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:69308400-69320400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:69308600-69309800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:69308600-69309800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr14:69308600-69310000	Weak transcription	Fetal Thymus	thymus
38	chr14:69308600-69310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:69308600-69310400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:69308600-69310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr14:69308600-69310400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:69308600-69310400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:69308600-69310400	Weak transcription	NHEK	skin
44	chr14:69308600-69320400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:69308800-69309800	Enhancers	Stomach Smooth Muscle	stomach
46	chr14:69308800-69310000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:69308800-69310200	Weak transcription	Osteobl	bone
48	chr14:69308800-69310400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:69308800-69310400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:69308800-69310400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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