Variant report

Variant	rs56099290
Chromosome Location	chr14:78286193-78286194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78285490..78287440-chr14:78291116..78293243,2	K562	blood:
2	chr14:78284551..78287243-chr14:78287692..78289277,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11159292	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11159293	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12100847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17106436	1.00[EUR][1000 genomes]
rs17106446	1.00[EUR][1000 genomes]
rs28445375	1.00[EUR][1000 genomes]
rs28583578	1.00[EUR][1000 genomes]
rs28794568	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35636358	1.00[EUR][1000 genomes]
rs55637975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55854915	1.00[EUR][1000 genomes]
rs55898805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55942240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55970713	1.00[EUR][1000 genomes]
rs56014836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56202430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56244834	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56249119	1.00[EUR][1000 genomes]
rs56404400	1.00[EUR][1000 genomes]
rs58157110	0.83[EUR][1000 genomes]
rs7149496	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78288200	Weak transcription	Spleen	Spleen
2	chr14:78267200-78288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
4	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
5	chr14:78270800-78288400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:78270800-78288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:78280000-78287600	Weak transcription	K562	blood
9	chr14:78282800-78288600	Weak transcription	Pancreas	Pancrea
10	chr14:78283000-78293400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:78283200-78301800	Weak transcription	Small Intestine	intestine
12	chr14:78283400-78289200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:78283600-78286200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
15	chr14:78283800-78288800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:78283800-78288800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:78283800-78297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:78284000-78288600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:78284000-78289200	Weak transcription	NHEK	skin
20	chr14:78284000-78292200	Weak transcription	Stomach Mucosa	stomach
21	chr14:78284000-78299400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:78284200-78289000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:78284200-78298000	Weak transcription	HepG2	liver
24	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
25	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:78284600-78286400	Strong transcription	Brain Cingulate Gyrus	brain
27	chr14:78284600-78286600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr14:78284600-78288600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:78284600-78289400	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:78284800-78286600	Strong transcription	Brain Angular Gyrus	brain
31	chr14:78284800-78288800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:78284800-78289600	Strong transcription	Adipose Nuclei	Adipose
33	chr14:78284800-78289800	Strong transcription	Fetal Muscle Leg	muscle
34	chr14:78284800-78291600	Weak transcription	Fetal Heart	heart
35	chr14:78284800-78300800	Weak transcription	Fetal Brain Male	brain
36	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:78285000-78286800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:78285000-78287000	Strong transcription	Primary B cells from cord blood	blood
39	chr14:78285000-78287000	Strong transcription	Primary T cells from cord blood	blood
40	chr14:78285000-78287200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr14:78285000-78289600	Strong transcription	Brain Hippocampus Middle	brain
42	chr14:78285200-78286400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:78285200-78286400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:78285200-78286400	Strong transcription	Colon Smooth Muscle	Colon
45	chr14:78285200-78286400	Strong transcription	Dnd41	blood
46	chr14:78285200-78286600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:78285200-78286600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:78285200-78286600	Strong transcription	Fetal Intestine Large	intestine
49	chr14:78285200-78287000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:78285200-78287000	Strong transcription	Aorta	Aorta

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