Variant report

Variant	rs66502123
Chromosome Location	chr14:77772829-77772830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77493529..77496906-chr14:77768438..77773961,7	MCF-7	breast:
2	chr14:77766406..77773210-chr14:77841892..77846481,6	MCF-7	breast:
3	chr14:77648085..77652144-chr14:77770230..77773335,4	MCF-7	breast:
4	chr14:77772512..77775137-chr14:78173113..78175507,2	MCF-7	breast:
5	chr14:77770444..77771981-chr14:77772678..77775032,2	K562	blood:
6	chr14:77771713..77774149-chr14:77924660..77927150,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119705	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000119669	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000100580	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17105685	1.00[ASN][1000 genomes]
rs55687913	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57387598	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67600987	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681246	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311333	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006367	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS 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	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77739600-77775600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:77741800-77773600	Weak transcription	GM12878-XiMat	blood
3	chr14:77742400-77780200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:77751400-77775600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:77751400-77786200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:77751800-77775600	Weak transcription	Thymus	Thymus
7	chr14:77752200-77775600	Weak transcription	Fetal Thymus	thymus
8	chr14:77752600-77773000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:77752600-77779200	Weak transcription	Fetal Heart	heart
10	chr14:77760400-77773000	Strong transcription	Fetal Stomach	stomach
11	chr14:77762800-77774800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:77765600-77773200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:77766200-77775200	Weak transcription	Primary T cells from cord blood	blood
14	chr14:77766400-77779200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:77767600-77773000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:77767800-77773600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:77767800-77780400	Weak transcription	Colonic Mucosa	Colon
18	chr14:77768000-77780600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:77768000-77780600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:77768800-77780400	Weak transcription	Right Ventricle	heart
21	chr14:77769000-77776000	Enhancers	Placenta	Placenta
22	chr14:77769200-77773200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:77769600-77773200	Enhancers	Brain Angular Gyrus	brain
24	chr14:77770000-77774200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr14:77770000-77774200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:77770000-77780400	Weak transcription	Esophagus	oesophagus
27	chr14:77770200-77773200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:77770200-77773600	Weak transcription	Stomach Mucosa	stomach
29	chr14:77770200-77774200	Enhancers	NH-A	brain
30	chr14:77770200-77779200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:77770400-77773000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:77770400-77775200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr14:77770600-77773000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:77770600-77773400	Weak transcription	Small Intestine	intestine
35	chr14:77770600-77775200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:77770800-77785800	Weak transcription	K562	blood
37	chr14:77771200-77773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:77771200-77773200	Weak transcription	NHLF	lung
39	chr14:77771200-77780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:77771400-77773000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:77771400-77773000	Weak transcription	HMEC	breast
42	chr14:77771400-77775400	Weak transcription	HUVEC	blood vessel
43	chr14:77771600-77775200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:77771600-77777600	Weak transcription	Hela-S3	cervix
45	chr14:77771600-77779600	Weak transcription	Fetal Kidney	kidney
46	chr14:77771800-77774200	Enhancers	Fetal Brain Male	brain
47	chr14:77772000-77773000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:77772000-77773800	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr14:77772000-77780400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:77772200-77773000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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