Variant report

Variant	rs60493601
Chromosome Location	chr14:70103137-70103138
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70101474..70104244-chr14:70105126..70107458,2	K562	blood:
2	chr14:70101993..70106597-chr14:70107643..70110243,6	MCF-7	breast:
3	chr14:70095351..70098392-chr14:70102040..70105224,3	MCF-7	breast:
4	chr14:70070411..70072441-chr14:70102031..70104463,2	MCF-7	breast:
5	chr14:70096444..70099112-chr14:70101030..70103502,2	K562	blood:
6	chr14:70076463..70079289-chr14:70101181..70103707,2	K562	blood:
7	chr14:70101968..70105684-chr14:70161055..70164607,3	K562	blood:
8	chr14:70102489..70105058-chr14:70116794..70119133,2	K562	blood:
9	chr14:70101474..70104313-chr14:70104673..70108475,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55870632	1.00[AMR][1000 genomes]
rs55988102	1.00[AMR][1000 genomes]
rs56002959	1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes]
rs56808476	1.00[AMR][1000 genomes]
rs56859443	1.00[AMR][1000 genomes]
rs56956469	1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes]
rs58583730	1.00[AMR][1000 genomes]
rs59555734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60085780	1.00[AMR][1000 genomes]
rs60835679	1.00[AMR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes]
rs74060219	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060234	1.00[AMR][1000 genomes]
rs74060237	1.00[AMR][1000 genomes]
rs74060267	1.00[AMR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes]
rs74060294	1.00[AMR][1000 genomes]
rs74061831	1.00[AMR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes]
rs74061864	1.00[AMR][1000 genomes]
rs8014375	1.00[AMR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70093800-70107400	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:70094800-70105600	Enhancers	Right Ventricle	heart
3	chr14:70094800-70106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:70095000-70104200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:70095000-70106400	Enhancers	Brain Hippocampus Middle	brain
6	chr14:70095000-70106800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr14:70095400-70106600	Enhancers	Psoas Muscle	Psoas
8	chr14:70095400-70107000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr14:70095600-70105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:70095600-70105800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr14:70095600-70106800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:70095800-70106200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70095800-70106400	Enhancers	Adipose Nuclei	Adipose
14	chr14:70097400-70104000	Weak transcription	Fetal Brain Male	brain
15	chr14:70097400-70105800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:70097600-70105600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:70097600-70106400	Enhancers	HMEC	breast
18	chr14:70097800-70105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:70098000-70104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:70098000-70104200	Enhancers	HepG2	liver
21	chr14:70098200-70105800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:70098400-70105600	Enhancers	HSMMtube	muscle
23	chr14:70098400-70106600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:70098600-70105600	Enhancers	Fetal Lung	lung
25	chr14:70099000-70104000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr14:70099000-70104200	Weak transcription	HSMM	muscle
27	chr14:70099200-70104000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:70099200-70104000	Weak transcription	NHDF-Ad	bronchial
29	chr14:70099200-70105600	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:70099200-70106800	Enhancers	Stomach Mucosa	stomach
31	chr14:70099400-70104200	Weak transcription	NH-A	brain
32	chr14:70099400-70106600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:70099800-70104200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr14:70100000-70104000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:70100000-70104000	Enhancers	Duodenum Mucosa	Duodenum
36	chr14:70100000-70105200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:70100200-70104000	Weak transcription	Aorta	Aorta
38	chr14:70100200-70104200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:70100200-70105200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr14:70100400-70104200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:70100400-70105400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:70100400-70105800	Enhancers	Brain Angular Gyrus	brain
43	chr14:70100400-70105800	Enhancers	Fetal Heart	heart
44	chr14:70100600-70104200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:70100600-70104400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:70100800-70104400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:70100800-70105200	Enhancers	Brain Substantia Nigra	brain
48	chr14:70101000-70103200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:70101000-70103800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:70101000-70104200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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