Variant report

Variant	rs55891221
Chromosome Location	chr14:77810519-77810520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77802289..77805136-chr14:77808966..77810650,2	K562	blood:
2	chr14:77809100..77810943-chr14:77811490..77814273,2	MCF-7	breast:
3	chr14:77809184..77811405-chr14:77842213..77844596,2	MCF-7	breast:
4	chr14:77808493..77810636-chr14:77812936..77815914,3	K562	blood:
5	chr14:77803636..77806540-chr14:77808690..77810650,2	K562	blood:

Variant related genes	Relation type
ENSG00000100580	Chromatin interaction
ENSG00000100583	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10450933	0.91[ASN][1000 genomes]
rs17105674	0.82[EUR][1000 genomes]
rs17105759	0.91[ASN][1000 genomes]
rs17751122	0.91[ASN][1000 genomes]
rs2287397	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2293802	0.91[ASN][1000 genomes]
rs2302831	0.82[EUR][1000 genomes]
rs3742739	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55886156	0.82[EUR][1000 genomes]
rs56018212	0.82[EUR][1000 genomes]
rs56091500	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681225	0.82[EUR][1000 genomes]
rs72681227	0.82[EUR][1000 genomes]
rs72681229	0.82[EUR][1000 genomes]
rs72681235	0.82[EUR][1000 genomes]
rs72681243	0.89[EUR][1000 genomes]
rs72681261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681263	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72681264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681265	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681283	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681284	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311381	1.00[ASN][1000 genomes]
rs8177546	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177560	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177565	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177567	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177568	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177571	0.89[EUR][1000 genomes];0.82[ASN][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	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	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr14:77789200-77818200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:77793200-77824600	Weak transcription	Psoas Muscle	Psoas
3	chr14:77801200-77812600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:77801400-77811200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:77801600-77810600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:77802000-77813000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr14:77802800-77810600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:77803000-77811000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:77803000-77811000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:77803600-77813000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:77803800-77835400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:77804200-77811400	Strong transcription	Primary B cells from cord blood	blood
13	chr14:77804400-77811400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr14:77804600-77810800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:77804600-77811000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:77804800-77811400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:77805200-77813000	Strong transcription	Fetal Intestine Large	intestine
18	chr14:77805200-77818600	Weak transcription	Small Intestine	intestine
19	chr14:77805400-77810800	Strong transcription	GM12878-XiMat	blood
20	chr14:77805400-77811000	Strong transcription	Primary T cells from cord blood	blood
21	chr14:77805400-77811200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:77805400-77812800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:77805600-77810800	Strong transcription	Left Ventricle	heart
24	chr14:77805600-77811000	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr14:77805600-77811000	Strong transcription	Pancreas	Pancrea
26	chr14:77805800-77810800	Strong transcription	Fetal Stomach	stomach
27	chr14:77805800-77811000	Strong transcription	Fetal Thymus	thymus
28	chr14:77805800-77811200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:77805800-77813200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr14:77806000-77810600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:77806000-77810600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr14:77806000-77810600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr14:77806000-77811000	Strong transcription	Dnd41	blood
34	chr14:77806000-77811200	Strong transcription	Liver	Liver
35	chr14:77806200-77810800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr14:77806200-77811000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:77806200-77811000	Strong transcription	Lung	lung
38	chr14:77806200-77811000	Strong transcription	Spleen	Spleen
39	chr14:77806200-77812000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:77806200-77812800	Strong transcription	Thymus	Thymus
41	chr14:77806200-77819400	Weak transcription	A549	lung
42	chr14:77806400-77810600	Strong transcription	Fetal Intestine Small	intestine
43	chr14:77806400-77810800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:77806400-77811200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:77806400-77838600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr14:77806600-77822200	Weak transcription	NHDF-Ad	bronchial
47	chr14:77806800-77810800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:77807000-77810800	Strong transcription	Brain Angular Gyrus	brain
49	chr14:77807800-77817600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:77807800-77819600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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