Variant report

Variant	rs10130030
Chromosome Location	chr14:81673694-81673695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81665997..81674006-chr14:81683759..81689461,17	MCF-7	breast:
2	chr14:81671482..81674302-chr14:81674927..81677251,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10135816	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10136239	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10140780	0.92[AFR][1000 genomes]
rs10145323	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10148333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11851828	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17094177	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2033255	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28656130	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640110	0.82[AFR][1000 genomes]
rs59666109	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73346377	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8005919	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9323697	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902117	chr14:81643800-81682392	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
2	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:81644600-81685400	Weak transcription	Right Ventricle	heart
5	chr14:81644800-81675600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:81646200-81674800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:81647200-81674400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:81647400-81674600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:81649200-81677800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:81650600-81676600	Strong transcription	Placenta	Placenta
11	chr14:81651000-81685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:81652600-81685400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:81654200-81683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:81656600-81682800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:81656600-81683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:81656600-81683400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:81657000-81674000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:81659400-81676600	Weak transcription	NHLF	lung
19	chr14:81660800-81674600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:81660800-81674600	Weak transcription	Pancreas	Pancrea
21	chr14:81660800-81685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:81661000-81685400	Weak transcription	Aorta	Aorta
23	chr14:81662400-81674200	Weak transcription	Fetal Intestine Small	intestine
24	chr14:81662600-81674400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:81662600-81674400	Weak transcription	Lung	lung
26	chr14:81662600-81684600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:81662800-81685400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:81663000-81683200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:81663000-81683800	Weak transcription	Fetal Brain Male	brain
30	chr14:81666200-81674800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:81666400-81683400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr14:81666800-81678600	Strong transcription	Dnd41	blood
33	chr14:81666800-81685000	Weak transcription	Stomach Mucosa	stomach
34	chr14:81667000-81675600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:81667000-81682800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr14:81667000-81682800	Strong transcription	Fetal Thymus	thymus
37	chr14:81667400-81674000	Strong transcription	Hela-S3	cervix
38	chr14:81667400-81678000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr14:81667400-81683200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:81667600-81674000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:81667600-81675000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:81667600-81676400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:81667600-81676600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:81667600-81676600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr14:81667600-81678600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:81667600-81684000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:81667800-81678800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:81667800-81682000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:81668000-81676800	Strong transcription	Primary T cells from cord blood	blood
50	chr14:81668800-81675600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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