Variant report

Variant	rs10148957
Chromosome Location	chr14:70105365-70105366
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70078988..70081475-chr14:70103806..70105577,2	MCF-7	breast:
2	chr14:70104798..70107619-chr14:70112192..70114043,4	MCF-7	breast:
3	chr14:70086768..70089383-chr14:70104603..70106500,2	MCF-7	breast:
4	chr14:70095845..70098829-chr14:70103147..70105853,3	K562	blood:
5	chr14:70103180..70106093-chr14:70233573..70235342,2	K562	blood:
6	chr14:70101993..70106597-chr14:70107643..70110243,6	MCF-7	breast:
7	chr14:70101474..70104313-chr14:70104673..70108475,3	K562	blood:
8	chr14:70101474..70104244-chr14:70105126..70107458,2	K562	blood:
9	chr14:70103896..70106224-chr14:70117307..70118955,2	MCF-7	breast:
10	chr14:70101968..70105684-chr14:70161055..70164607,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10047848	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130124	1.00[EUR][1000 genomes]
rs10131362	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137013	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10137162	1.00[EUR][1000 genomes]
rs10138453	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10140437	0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144038	1.00[EUR][1000 genomes]
rs10146486	1.00[EUR][1000 genomes]
rs10148264	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10149936	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151989	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220277	1.00[EUR][1000 genomes]
rs11847514	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1275744	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435330	1.00[EUR][1000 genomes]
rs28445972	1.00[EUR][1000 genomes]
rs28524787	1.00[EUR][1000 genomes]
rs28538272	1.00[AMR][1000 genomes]
rs28633309	1.00[EUR][1000 genomes]
rs28671429	1.00[EUR][1000 genomes]
rs28757382	1.00[EUR][1000 genomes]
rs28758769	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs28879830	1.00[EUR][1000 genomes]
rs9805962	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];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	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:114 , 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	chr14:70100400-70105400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:70100400-70105800	Enhancers	Brain Angular Gyrus	brain
26	chr14:70100400-70105800	Enhancers	Fetal Heart	heart
27	chr14:70101200-70105800	Enhancers	Fetal Thymus	thymus
28	chr14:70101200-70106600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:70101400-70106400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:70101600-70105800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:70101600-70106400	Enhancers	Primary hematopoietic stem cells	blood
32	chr14:70101600-70106600	Enhancers	Spleen	Spleen
33	chr14:70101800-70105600	Enhancers	Brain Anterior Caudate	brain
34	chr14:70101800-70105800	Enhancers	Fetal Muscle Leg	muscle
35	chr14:70101800-70106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:70102000-70105800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr14:70102000-70105800	Enhancers	Ovary	ovary
38	chr14:70102000-70106600	Enhancers	Gastric	stomach
39	chr14:70102000-70106800	Enhancers	Small Intestine	intestine
40	chr14:70102200-70105800	Enhancers	Placenta	Placenta
41	chr14:70102200-70106400	Enhancers	Thymus	Thymus
42	chr14:70102200-70106600	Enhancers	Lung	lung
43	chr14:70102200-70106600	Enhancers	Pancreas	Pancrea
44	chr14:70102200-70106600	Enhancers	Right Atrium	heart
45	chr14:70102200-70107000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr14:70102200-70107200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:70102200-70107400	Enhancers	Left Ventricle	heart
48	chr14:70102400-70106400	Enhancers	Liver	Liver
49	chr14:70102400-70107600	Enhancers	Fetal Intestine Large	intestine
50	chr14:70102600-70105800	Enhancers	Osteobl	bone

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