Variant report

Variant	rs28493719
Chromosome Location	chr14:34919929-34919930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34845403..34847934-chr14:34917916..34920495,2	K562	blood:
2	chr14:34914094..34917088-chr14:34917252..34921596,5	K562	blood:
3	chr14:34918625..34921655-chr14:34965491..34967777,3	MCF-7	breast:
4	chr14:34917560..34921859-chr14:34930023..34933382,10	MCF-7	breast:
5	chr14:34914176..34917088-chr14:34919017..34921361,2	K562	blood:

Variant related genes	Relation type
ENSG00000165389	Chromatin interaction
ENSG00000129521	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10129553	0.99[AFR][1000 genomes]
rs10129766	0.99[AFR][1000 genomes]
rs10129915	1.00[EUR][1000 genomes]
rs10130046	1.00[EUR][1000 genomes]
rs10130753	0.90[AFR][1000 genomes]
rs10133741	1.00[EUR][1000 genomes]
rs10143109	1.00[EUR][1000 genomes]
rs10145547	0.88[AFR][1000 genomes]
rs17102490	1.00[EUR][1000 genomes]
rs17102535	0.86[AFR][1000 genomes]
rs28680406	1.00[EUR][1000 genomes]
rs59038005	1.00[EUR][1000 genomes]
rs59347396	1.00[EUR][1000 genomes]
rs7142802	1.00[EUR][1000 genomes]
rs73234328	1.00[EUR][1000 genomes]
rs73242797	1.00[EUR][1000 genomes]
rs73242799	1.00[EUR][1000 genomes]
rs73242802	1.00[EUR][1000 genomes]
rs73244424	1.00[EUR][1000 genomes]
rs73244427	1.00[EUR][1000 genomes]
rs73245453	1.00[EUR][1000 genomes]
rs73245457	1.00[EUR][1000 genomes]
rs73245459	1.00[EUR][1000 genomes]
rs73245465	1.00[EUR][1000 genomes]
rs73245466	1.00[EUR][1000 genomes]
rs73245475	1.00[EUR][1000 genomes]
rs73245485	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34896400-34922400	Weak transcription	Left Ventricle	heart
2	chr14:34901800-34929400	Weak transcription	K562	blood
3	chr14:34904600-34924800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:34904800-34923400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:34906000-34922400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:34906800-34922400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:34906800-34923400	Weak transcription	NHLF	lung
8	chr14:34906800-34928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:34906800-34928800	Weak transcription	NH-A	brain
10	chr14:34906800-34930200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:34907000-34923600	Weak transcription	Liver	Liver
12	chr14:34907200-34922000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:34907200-34930000	Weak transcription	Primary B cells from cord blood	blood
14	chr14:34907400-34922400	Weak transcription	Ovary	ovary
15	chr14:34907400-34929800	Weak transcription	Psoas Muscle	Psoas
16	chr14:34907400-34930000	Weak transcription	Small Intestine	intestine
17	chr14:34908000-34923400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:34910000-34921200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:34910400-34924600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:34910600-34923400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:34911800-34922400	Weak transcription	Lung	lung
22	chr14:34911800-34929200	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:34912000-34930000	Weak transcription	Right Ventricle	heart
24	chr14:34912200-34922400	Weak transcription	HSMMtube	muscle
25	chr14:34913000-34924200	Weak transcription	Placenta	Placenta
26	chr14:34913000-34927000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:34913600-34920600	Weak transcription	Colonic Mucosa	Colon
28	chr14:34913800-34927200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:34914000-34921200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:34914200-34922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:34914400-34921200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:34914600-34922400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:34915000-34929600	Weak transcription	Primary T cells from cord blood	blood
34	chr14:34915000-34930000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:34915200-34920600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:34915200-34927000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:34915200-34929200	Weak transcription	Brain Anterior Caudate	brain
38	chr14:34915400-34920000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:34915400-34921200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:34915800-34920600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:34915800-34920800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:34916000-34929000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:34916200-34923400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:34916400-34921800	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:34916800-34920000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr14:34916800-34920200	Weak transcription	Fetal Heart	heart
47	chr14:34916800-34923200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:34917000-34921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:34917400-34920000	Strong transcription	GM12878-XiMat	blood
50	chr14:34917400-34922600	Weak transcription	Adipose Nuclei	Adipose

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