Variant report

Variant	rs67344054
Chromosome Location	chr14:77886721-77886722
allele	AAC/CAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:
2	chr14:77886107..77889057-chr14:77889383..77893266,3	K562	blood:

Variant related genes	Relation type
ENSG00000165555	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000009830	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1061629	0.80[EUR][1000 genomes]
rs11159259	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11159261	0.85[AFR][1000 genomes]
rs11623826	0.83[EUR][1000 genomes]
rs11625365	0.83[EUR][1000 genomes]
rs12879316	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12885869	0.83[EUR][1000 genomes]
rs12886224	0.85[EUR][1000 genomes]
rs147316	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs176773	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs176778	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs176781	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2091916	0.82[EUR][1000 genomes]
rs2242619	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2364156	0.81[EUR][1000 genomes]
rs4223	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4369582	0.82[EUR][1000 genomes]
rs4899655	0.84[EUR][1000 genomes]
rs6574372	0.83[EUR][1000 genomes]
rs8006688	0.80[EUR][1000 genomes]
rs8016576	0.85[EUR][1000 genomes]
rs8018711	0.80[EUR][1000 genomes]
rs963283	0.83[EUR][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	nsv1362	chr14:77853202-77898605	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77872400-77888600	Weak transcription	Pancreas	Pancrea
2	chr14:77880400-77894400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:77881800-77888200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:77882400-77888000	Weak transcription	HSMM	muscle
5	chr14:77883800-77893200	Weak transcription	K562	blood
6	chr14:77884800-77891000	Weak transcription	HMEC	breast
7	chr14:77885000-77887400	Weak transcription	Esophagus	oesophagus
8	chr14:77885200-77888000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:77885200-77888000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:77885400-77887200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:77885600-77888000	Weak transcription	Fetal Kidney	kidney
12	chr14:77886000-77887000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr14:77886000-77887200	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr14:77886200-77887000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:77886200-77889400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:77886200-77890400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:77886200-77891000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:77886400-77887400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:77886400-77887400	Weak transcription	Left Ventricle	heart
20	chr14:77886400-77887400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:77886400-77887800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr14:77886400-77888000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:77886400-77888600	Weak transcription	Fetal Thymus	thymus
24	chr14:77886400-77889000	Weak transcription	Osteobl	bone
25	chr14:77886400-77890000	Weak transcription	Thymus	Thymus
26	chr14:77886400-77890400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:77886400-77890400	Weak transcription	Gastric	stomach
28	chr14:77886400-77891000	Weak transcription	HUVEC	blood vessel
29	chr14:77886400-77891200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:77886600-77887000	Weak transcription	Brain Germinal Matrix	brain
31	chr14:77886600-77887200	Weak transcription	Primary T cells from cord blood	blood
32	chr14:77886600-77887200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:77886600-77887200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:77886600-77887400	Weak transcription	Adipose Nuclei	Adipose
35	chr14:77886600-77887400	Weak transcription	Liver	Liver
36	chr14:77886600-77887400	Weak transcription	Fetal Lung	lung
37	chr14:77886600-77887400	Weak transcription	GM12878-XiMat	blood
38	chr14:77886600-77887800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:77886600-77887800	Weak transcription	Brain Angular Gyrus	brain
40	chr14:77886600-77888600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:77886600-77888600	Weak transcription	Fetal Stomach	stomach
42	chr14:77886600-77888600	Weak transcription	Lung	lung
43	chr14:77886600-77888800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr14:77886600-77889000	Weak transcription	Spleen	Spleen
45	chr14:77886600-77889200	Weak transcription	Brain Anterior Caudate	brain
46	chr14:77886600-77889200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:77886600-77889200	Weak transcription	Small Intestine	intestine
48	chr14:77886600-77889200	Weak transcription	HepG2	liver
49	chr14:77886600-77889600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:77886600-77890400	Weak transcription	Colon Smooth Muscle	Colon

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