Variant report

Variant	rs60085780
Chromosome Location	chr14:70105016-70105017
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70078988..70081475-chr14:70103806..70105577,2	MCF-7	breast:
2	chr14:70103316..70105220-chr14:70115351..70116992,2	MCF-7	breast:
3	chr14:70104798..70107619-chr14:70112192..70114043,4	MCF-7	breast:
4	chr14:70086768..70089383-chr14:70104603..70106500,2	MCF-7	breast:
5	chr14:70095845..70098829-chr14:70103147..70105853,3	K562	blood:
6	chr14:70103180..70106093-chr14:70233573..70235342,2	K562	blood:
7	chr14:70101993..70106597-chr14:70107643..70110243,6	MCF-7	breast:
8	chr14:70101474..70104313-chr14:70104673..70108475,3	K562	blood:
9	chr14:70095351..70098392-chr14:70102040..70105224,3	MCF-7	breast:
10	chr14:70103896..70106224-chr14:70117307..70118955,2	MCF-7	breast:
11	chr14:70101968..70105684-chr14:70161055..70164607,3	K562	blood:
12	chr14:70102489..70105058-chr14:70116794..70119133,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11844465	1.00[EUR][1000 genomes]
rs11845658	1.00[EUR][1000 genomes]
rs11849924	1.00[EUR][1000 genomes]
rs12100899	1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs1957367	1.00[EUR][1000 genomes]
rs55870632	1.00[AMR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs55988102	1.00[AMR][1000 genomes]
rs56002959	1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56808476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859443	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56956469	1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58053579	1.00[EUR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58503693	1.00[EUR][1000 genomes]
rs58583730	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs61734222	1.00[EUR][1000 genomes]
rs61745930	1.00[EUR][1000 genomes]
rs7144597	1.00[EUR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060220	1.00[EUR][1000 genomes]
rs74060234	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060237	1.00[AMR][1000 genomes]
rs74060251	1.00[EUR][1000 genomes]
rs74060252	1.00[EUR][1000 genomes]
rs74060256	1.00[EUR][1000 genomes]
rs74060258	1.00[EUR][1000 genomes]
rs74060261	1.00[EUR][1000 genomes]
rs74060263	1.00[EUR][1000 genomes]
rs74060267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060281	1.00[EUR][1000 genomes]
rs74060283	1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74061831	1.00[AMR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061864	1.00[AMR][1000 genomes];1.00[EUR][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:118 , 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	chr14:70095000-70106400	Enhancers	Brain Hippocampus Middle	brain
5	chr14:70095000-70106800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr14:70095400-70106600	Enhancers	Psoas Muscle	Psoas
7	chr14:70095400-70107000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr14:70095600-70105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:70095600-70105800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr14:70095600-70106800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:70095800-70106200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:70095800-70106400	Enhancers	Adipose Nuclei	Adipose
13	chr14:70097400-70105800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:70097600-70105600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:70097600-70106400	Enhancers	HMEC	breast
16	chr14:70097800-70105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:70098200-70105800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:70098400-70105600	Enhancers	HSMMtube	muscle
19	chr14:70098400-70106600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:70098600-70105600	Enhancers	Fetal Lung	lung
21	chr14:70099200-70105600	Enhancers	Brain Cingulate Gyrus	brain
22	chr14:70099200-70106800	Enhancers	Stomach Mucosa	stomach
23	chr14:70099400-70106600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:70100000-70105200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:70100200-70105200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr14:70100400-70105400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:70100400-70105800	Enhancers	Brain Angular Gyrus	brain
28	chr14:70100400-70105800	Enhancers	Fetal Heart	heart
29	chr14:70100800-70105200	Enhancers	Brain Substantia Nigra	brain
30	chr14:70101200-70105800	Enhancers	Fetal Thymus	thymus
31	chr14:70101200-70106600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:70101400-70106400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:70101600-70105200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:70101600-70105200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:70101600-70105800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr14:70101600-70106400	Enhancers	Primary hematopoietic stem cells	blood
37	chr14:70101600-70106600	Enhancers	Spleen	Spleen
38	chr14:70101800-70105600	Enhancers	Brain Anterior Caudate	brain
39	chr14:70101800-70105800	Enhancers	Fetal Muscle Leg	muscle
40	chr14:70101800-70106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:70102000-70105800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:70102000-70105800	Enhancers	Ovary	ovary
43	chr14:70102000-70106600	Enhancers	Gastric	stomach
44	chr14:70102000-70106800	Enhancers	Small Intestine	intestine
45	chr14:70102200-70105800	Enhancers	Placenta	Placenta
46	chr14:70102200-70106400	Enhancers	Thymus	Thymus
47	chr14:70102200-70106600	Enhancers	Lung	lung
48	chr14:70102200-70106600	Enhancers	Pancreas	Pancrea
49	chr14:70102200-70106600	Enhancers	Right Atrium	heart
50	chr14:70102200-70107000	Enhancers	Primary T cells fromperipheralblood	blood

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