Variant report

Variant	rs10150246
Chromosome Location	chr14:70093481-70093482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70086712..70090061-chr14:70093256..70096092,3	K562	blood:
2	chr14:70093321..70095778-chr14:70107499..70109457,2	MCF-7	breast:
3	chr14:70091590..70094209-chr14:70097904..70100674,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10047848	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130124	1.00[EUR][1000 genomes]
rs10131362	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137013	1.00[EUR][1000 genomes]
rs10137162	1.00[EUR][1000 genomes]
rs10138453	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10140437	1.00[AMR][1000 genomes]
rs10144038	1.00[EUR][1000 genomes]
rs10146486	1.00[EUR][1000 genomes]
rs10148264	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148957	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10149936	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151989	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220277	1.00[EUR][1000 genomes]
rs11847514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1275744	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[EUR][1000 genomes]
rs28879830	1.00[EUR][1000 genomes]
rs9805962	0.84[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
3	chr14:70083400-70095200	Weak transcription	Fetal Intestine Large	intestine
4	chr14:70083400-70097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:70087200-70100000	Weak transcription	NHEK	skin
6	chr14:70088000-70098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:70088600-70095800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:70088600-70099200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:70089600-70096000	Weak transcription	Ovary	ovary
10	chr14:70090200-70093800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:70090400-70098600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:70090600-70093800	Enhancers	Liver	Liver
13	chr14:70091800-70093600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:70091800-70101000	Enhancers	Left Ventricle	heart
15	chr14:70092000-70093600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:70092000-70093800	Enhancers	Right Ventricle	heart
17	chr14:70092200-70096200	Weak transcription	NHDF-Ad	bronchial
18	chr14:70092400-70094000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr14:70092400-70095600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:70092400-70096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:70092400-70096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:70092400-70097800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:70092400-70098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:70092400-70098200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:70092400-70100000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:70092400-70101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:70092600-70093800	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr14:70092600-70093800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr14:70092600-70094000	Enhancers	Fetal Thymus	thymus
30	chr14:70092600-70094600	Weak transcription	HepG2	liver
31	chr14:70092600-70095800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:70092600-70095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:70092600-70099600	Enhancers	Primary B cells from cord blood	blood
34	chr14:70092800-70093800	Enhancers	HUVEC	blood vessel
35	chr14:70092800-70094800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:70092800-70095000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:70092800-70095600	Weak transcription	Lung	lung
38	chr14:70092800-70095800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:70092800-70095800	Weak transcription	Aorta	Aorta
40	chr14:70092800-70095800	Weak transcription	Colon Smooth Muscle	Colon
41	chr14:70092800-70095800	Weak transcription	Esophagus	oesophagus
42	chr14:70092800-70095800	Weak transcription	Pancreas	Pancrea
43	chr14:70092800-70095800	Weak transcription	NHLF	lung
44	chr14:70092800-70096000	Weak transcription	Gastric	stomach
45	chr14:70092800-70096000	Weak transcription	Small Intestine	intestine
46	chr14:70092800-70096000	Weak transcription	HSMM	muscle
47	chr14:70092800-70096200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:70092800-70096200	Weak transcription	Fetal Stomach	stomach
49	chr14:70092800-70096200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:70092800-70096400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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