Variant report

Variant	rs4982051
Chromosome Location	chr14:20869163-20869164
allele	A/G
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20868017..20873008-chr14:20925510..20930733,7	MCF-7	breast:
2	chr14:20867287..20872693-chr14:20879973..20882983,7	MCF-7	breast:
3	chr14:20867760..20869396-chr14:20884762..20886572,2	MCF-7	breast:
4	chr14:20867481..20871115-chr14:20872880..20877080,6	MCF-7	breast:
5	chr14:20868641..20871296-chr14:20922673..20925258,3	MCF-7	breast:
6	chr14:20867852..20870759-chr14:20877710..20879846,3	MCF-7	breast:
7	chr14:20867822..20871188-chr14:20880173..20883771,5	MCF-7	breast:
8	chr14:20868018..20871017-chr14:20872955..20875003,3	K562	blood:
9	chr14:20867843..20871412-chr14:20927929..20931545,6	MCF-7	breast:
10	chr14:20809079..20812736-chr14:20868117..20871228,6	MCF-7	breast:
11	chr14:20804955..20807728-chr14:20869041..20870878,2	MCF-7	breast:
12	chr14:20868543..20870728-chr14:20936935..20939067,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL33-1	chr14:20868826-20869300	NONHSAT035574

No data

Variant related genes	Relation type
ENSG00000165782	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000200225	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000259001	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1243619	1.00[JPT][hapmap]
rs1878704	0.86[AMR][1000 genomes]
rs4981176	1.00[AMR][1000 genomes];1.00[ASN][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:126 , 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	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:20829200-20877000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:20829400-20876800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:20829600-20876800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:20829800-20877400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:20830400-20876800	Strong transcription	Fetal Stomach	stomach
8	chr14:20830400-20877200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:20831400-20877000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr14:20832000-20873600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:20832200-20876800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:20832600-20877000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:20833800-20869200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:20834000-20870000	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:20834000-20876800	Strong transcription	Adipose Nuclei	Adipose
16	chr14:20834200-20876200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:20834200-20876600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:20834200-20876800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:20834200-20877000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:20834400-20877200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:20840200-20869800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:20844400-20876600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:20844600-20869200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:20845600-20877000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr14:20855000-20875000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:20856600-20876800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:20856600-20877800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:20857000-20869600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:20857000-20876800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:20857000-20877000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr14:20857000-20878000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:20857800-20880200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:20858000-20875800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:20859400-20874400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:20859600-20876000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:20859800-20880400	Weak transcription	K562	blood
37	chr14:20860200-20872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:20861800-20876800	Strong transcription	Thymus	Thymus
39	chr14:20862000-20876800	Strong transcription	Spleen	Spleen
40	chr14:20862400-20870000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:20862800-20877000	Strong transcription	Primary T cells from cord blood	blood
42	chr14:20863000-20869400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr14:20863000-20869400	Strong transcription	Osteobl	bone
44	chr14:20863800-20869200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:20863800-20880600	Weak transcription	Fetal Brain Male	brain
46	chr14:20864000-20877200	Weak transcription	Fetal Heart	heart
47	chr14:20865000-20869200	Weak transcription	Right Ventricle	heart
48	chr14:20865000-20872000	Weak transcription	Psoas Muscle	Psoas
49	chr14:20865000-20880800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:20865200-20870800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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