Variant report

Variant	rs41301453
Chromosome Location	chr14:20876621-20876622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20867481..20871115-chr14:20872880..20877080,6	MCF-7	breast:
2	chr14:20876151..20895555-chr14:20920787..20932243,67	MCF-7	breast:
3	chr14:20874429..20878503-chr14:20878619..20882729,5	MCF-7	breast:
4	chr14:20871656..20875245-chr14:20875480..20879834,5	MCF-7	breast:
5	chr14:20876074..20883106-chr14:20935906..20939635,12	MCF-7	breast:
6	chr14:20809863..20811793-chr14:20873259..20877294,3	MCF-7	breast:
7	chr14:20871403..20873328-chr14:20875144..20877758,2	K562	blood:

Variant related genes	Relation type
ENSG00000259001	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000198805	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10083536	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1713438	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61734876	0.91[EUR][1000 genomes]
rs9796387	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
6	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 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	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:20829200-20877000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:20829400-20876800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:20829600-20876800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:20829800-20877400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:20830400-20876800	Strong transcription	Fetal Stomach	stomach
7	chr14:20830400-20877200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:20831400-20877000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr14:20832200-20876800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:20832600-20877000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:20834000-20876800	Strong transcription	Adipose Nuclei	Adipose
12	chr14:20834200-20876800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:20834200-20877000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:20834400-20877200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:20845600-20877000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr14:20856600-20876800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:20856600-20877800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr14:20857000-20876800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:20857000-20877000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr14:20857000-20878000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:20857800-20880200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:20859800-20880400	Weak transcription	K562	blood
23	chr14:20861800-20876800	Strong transcription	Thymus	Thymus
24	chr14:20862000-20876800	Strong transcription	Spleen	Spleen
25	chr14:20862800-20877000	Strong transcription	Primary T cells from cord blood	blood
26	chr14:20863800-20880600	Weak transcription	Fetal Brain Male	brain
27	chr14:20864000-20877200	Weak transcription	Fetal Heart	heart
28	chr14:20865000-20880800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:20865800-20876800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:20866200-20876800	Strong transcription	Left Ventricle	heart
31	chr14:20866200-20877200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr14:20866600-20876800	Strong transcription	Liver	Liver
33	chr14:20866600-20876800	Strong transcription	Lung	lung
34	chr14:20866800-20876800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:20866800-20876800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:20867600-20876800	Strong transcription	Fetal Muscle Leg	muscle
37	chr14:20868400-20876800	Strong transcription	GM12878-XiMat	blood
38	chr14:20868600-20877000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr14:20868800-20876800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:20868800-20876800	Strong transcription	Colon Smooth Muscle	Colon
41	chr14:20868800-20877000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:20869800-20876800	Strong transcription	Osteobl	bone
43	chr14:20870000-20876800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:20870000-20876800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr14:20870000-20876800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr14:20870000-20877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:20870000-20877000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:20870000-20880400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:20870000-20880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr14:20870000-20880600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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