Variant report

Variant	rs10134513
Chromosome Location	chr14:68066780-68066781
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68065533..68067898-chr14:68086654..68089518,2	K562	blood:
2	chr14:68052173..68055128-chr14:68065007..68067717,3	K562	blood:
3	chr14:68066197..68068186-chr17:66090683..66092203,2	MCF-7	breast:
4	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
5	chr14:68065568..68068491-chr14:68083250..68085597,2	K562	blood:
6	chr14:68065544..68068481-chr14:68141245..68142843,2	K562	blood:
7	chr14:68052079..68053763-chr14:68065280..68066980,2	K562	blood:
8	chr14:68065024..68068542-chr14:68160973..68163130,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266117	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000100568	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10133858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849600	1.00[EUR][1000 genomes]
rs12892280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2234515	1.00[EUR][1000 genomes]
rs28417709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28521930	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28629772	1.00[AMR][1000 genomes]
rs28705873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45462391	1.00[EUR][1000 genomes]
rs45584632	1.00[EUR][1000 genomes]
rs4899213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154887	1.00[EUR][1000 genomes]
rs7160492	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer 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	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers 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	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68064800-68067200	Active TSS	GM12878-XiMat	blood
2	chr14:68065400-68067400	Active TSS	K562	blood
3	chr14:68065600-68067200	Active TSS	Fetal Intestine Large	intestine
4	chr14:68065600-68067400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:68065600-68067400	Active TSS	NHDF-Ad	bronchial
6	chr14:68065600-68067600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr14:68065600-68067800	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr14:68065800-68066800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr14:68065800-68066800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr14:68065800-68066800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:68065800-68066800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:68065800-68067200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr14:68065800-68067200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:68065800-68067200	Active TSS	Ovary	ovary
15	chr14:68065800-68067400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:68065800-68067400	Active TSS	Brain Germinal Matrix	brain
17	chr14:68065800-68067400	Active TSS	Brain Substantia Nigra	brain
18	chr14:68065800-68067600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:68065800-68067600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:68065800-68067600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:68065800-68067600	Active TSS	Colon Smooth Muscle	Colon
22	chr14:68065800-68067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:68066000-68066800	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr14:68066000-68066800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr14:68066000-68067000	Active TSS	Primary T cells fromperipheralblood	blood
26	chr14:68066000-68067200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:68066000-68067200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:68066000-68067200	Active TSS	Fetal Intestine Small	intestine
29	chr14:68066000-68067200	Active TSS	Fetal Muscle Leg	muscle
30	chr14:68066000-68067200	Active TSS	Fetal Thymus	thymus
31	chr14:68066000-68067200	Active TSS	Right Atrium	heart
32	chr14:68066000-68067200	Active TSS	Stomach Mucosa	stomach
33	chr14:68066000-68067200	Active TSS	Stomach Smooth Muscle	stomach
34	chr14:68066000-68067200	Active TSS	Hela-S3	cervix
35	chr14:68066000-68067200	Active TSS	HMEC	breast
36	chr14:68066000-68067400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:68066000-68067400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr14:68066000-68067400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:68066000-68067400	Active TSS	Aorta	Aorta
40	chr14:68066000-68067400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr14:68066000-68067400	Active TSS	Psoas Muscle	Psoas
42	chr14:68066000-68067400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr14:68066000-68067400	Active TSS	Right Ventricle	heart
44	chr14:68066000-68067400	Active TSS	NHLF	lung
45	chr14:68066000-68067600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:68066000-68067600	Active TSS	Thymus	Thymus
47	chr14:68066200-68066800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr14:68066200-68066800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:68066200-68066800	Bivalent/Poised TSS	HepG2	liver
50	chr14:68066200-68067000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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