Variant report

Variant	rs28396996
Chromosome Location	chr14:24627875-24627876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24616215..24619153-chr14:24627779..24631890,5	K562	blood:
2	chr14:24609121..24610758-chr14:24625440..24627881,2	K562	blood:
3	chr14:24624836..24627996-chr14:24628785..24631858,4	K562	blood:
4	chr14:24627394..24630112-chr14:24833031..24835825,2	K562	blood:
5	chr14:24627288..24629695-chr14:24682917..24684693,2	K562	blood:
6	chr14:24627382..24636644-chr14:24680297..24686914,11	MCF-7	breast:
7	chr14:24581560..24585367-chr14:24626129..24634058,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213920	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000100968	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10131288	1.00[ASN][1000 genomes]
rs10132189	1.00[ASN][1000 genomes]
rs10136993	1.00[ASN][1000 genomes]
rs10140260	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10142080	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10142310	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10143943	1.00[ASN][1000 genomes]
rs10144791	1.00[ASN][1000 genomes]
rs10146665	1.00[ASN][1000 genomes]
rs17101758	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28435365	1.00[ASN][1000 genomes]
rs28533649	1.00[ASN][1000 genomes]
rs28589355	1.00[ASN][1000 genomes]
rs28636804	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4470080	1.00[ASN][1000 genomes]
rs7151467	1.00[ASN][1000 genomes]
rs8005722	1.00[ASN][1000 genomes]
rs8008047	1.00[ASN][1000 genomes]
rs8011199	1.00[ASN][1000 genomes]
rs8012049	1.00[ASN][1000 genomes]
rs8019514	1.00[ASN][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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24617600-24630400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24617800-24629800	Weak transcription	Right Atrium	heart
3	chr14:24618000-24629000	Strong transcription	Placenta	Placenta
4	chr14:24618000-24629400	Strong transcription	Fetal Intestine Small	intestine
5	chr14:24618000-24630000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:24618000-24630200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:24618000-24630400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:24618200-24629000	Strong transcription	Fetal Thymus	thymus
9	chr14:24618200-24629400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:24618200-24629400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:24618200-24629400	Strong transcription	Fetal Intestine Large	intestine
12	chr14:24618200-24629600	Weak transcription	Fetal Heart	heart
13	chr14:24618200-24630000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:24618200-24630000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:24618400-24629600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:24618400-24629800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:24618400-24629800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr14:24618400-24630000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:24618600-24628000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:24618600-24628000	Strong transcription	Ovary	ovary
21	chr14:24618600-24629800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:24618600-24629800	Strong transcription	Adipose Nuclei	Adipose
23	chr14:24618600-24630200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:24618600-24630200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:24618800-24628000	Strong transcription	Right Ventricle	heart
26	chr14:24618800-24629200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:24618800-24630000	Strong transcription	Fetal Stomach	stomach
28	chr14:24618800-24630000	Strong transcription	Thymus	Thymus
29	chr14:24619000-24629200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr14:24619200-24629400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:24619400-24628000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr14:24619400-24628400	Strong transcription	Liver	Liver
33	chr14:24619400-24629600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:24619400-24629600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr14:24619600-24628000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:24619600-24629000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:24619600-24629600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:24619800-24628000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:24619800-24629000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:24619800-24629200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:24619800-24629800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:24620000-24629200	Strong transcription	Dnd41	blood
43	chr14:24620800-24629600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:24621400-24628000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:24621400-24629800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:24623000-24629800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:24623200-24629200	Strong transcription	GM12878-XiMat	blood
48	chr14:24623200-24630000	Strong transcription	Osteobl	bone
49	chr14:24623400-24629800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:24623400-24630000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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