Variant report

Variant	rs55843949
Chromosome Location	chr14:55520000-55520001
allele	G/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55518983..55521078-chr14:55544190..55545895,2	K562	blood:
2	chr14:55517037..55520851-chr14:55594266..55601656,13	MCF-7	breast:
3	chr14:55518413..55520075-chr14:55533737..55537163,3	MCF-7	breast:
4	chr14:55518259..55522048-chr14:55593067..55596290,3	K562	blood:
5	chr14:55368105..55371463-chr14:55516987..55520396,7	MCF-7	breast:
6	chr14:55368751..55370631-chr14:55518308..55520538,2	K562	blood:
7	chr14:55519592..55523074-chr14:55547294..55549718,3	K562	blood:
8	chr14:55491083..55496744-chr14:55514437..55523536,23	MCF-7	breast:
9	chr14:55491921..55500295-chr14:55515389..55520812,24	K562	blood:
10	chr14:55491992..55498342-chr14:55515529..55520367,21	K562	blood:
11	chr14:55517345..55520488-chr14:55656247..55658381,3	K562	blood:
12	chr14:55517047..55520032-chr14:55601675..55604188,2	MCF-7	breast:
13	chr14:55501256..55503493-chr14:55519727..55521826,2	K562	blood:
14	chr14:55519061..55521585-chr14:55537812..55539825,2	MCF-7	breast:
15	chr14:55490790..55495805-chr14:55515486..55522658,19	MCF-7	breast:
16	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
17	chr14:55367425..55371142-chr14:55516489..55521777,7	MCF-7	breast:
18	chr14:55488932..55491816-chr14:55519690..55522183,2	K562	blood:
19	chr14:55468473..55471195-chr14:55518446..55520882,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180008	Chromatin interaction
ENSG00000198554	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000126787	Chromatin interaction
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11158030	0.81[ASN][1000 genomes]
rs11158031	0.81[ASN][1000 genomes]
rs11622128	0.81[ASN][1000 genomes]
rs11625204	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11626816	0.81[ASN][1000 genomes]
rs11627884	0.81[ASN][1000 genomes]
rs11845087	0.83[ASN][1000 genomes]
rs11849878	0.83[ASN][1000 genomes]
rs11851178	0.82[ASN][1000 genomes]
rs1187873	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1187874	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1187878	0.80[ASN][1000 genomes]
rs1212641	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128128	0.82[ASN][1000 genomes]
rs17128132	0.82[ASN][1000 genomes]
rs17128145	0.88[ASN][1000 genomes]
rs1952085	0.82[ASN][1000 genomes]
rs2147963	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2340943	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60805089	0.82[ASN][1000 genomes]
rs61178993	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573000	0.85[ASN][1000 genomes]
rs66962212	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66999765	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67652508	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67870023	0.83[ASN][1000 genomes]
rs7141975	0.85[ASN][1000 genomes]
rs7149965	0.82[ASN][1000 genomes]
rs7151431	0.82[ASN][1000 genomes]
rs7157678	0.83[ASN][1000 genomes]
rs7494066	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8015165	0.83[ASN][1000 genomes]
rs8016295	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9671895	0.83[ASN][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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55843949	C14orf32	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55517600-55520000	Active TSS	Fetal Brain Female	brain
2	chr14:55517800-55520000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:55517800-55520000	Active TSS	Right Ventricle	heart
4	chr14:55517800-55520400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:55518000-55520000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:55518000-55520600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:55519000-55520000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr14:55519000-55520000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr14:55519000-55520000	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr14:55519000-55520000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr14:55519000-55520200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:55519000-55520200	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr14:55519000-55520400	Active TSS	Right Atrium	heart
14	chr14:55519000-55520800	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr14:55519200-55520000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr14:55519200-55520000	Flanking Active TSS	Liver	Liver
17	chr14:55519200-55520000	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr14:55519200-55520200	Flanking Active TSS	Osteobl	bone
19	chr14:55519200-55520600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:55519200-55529400	Weak transcription	Spleen	Spleen
21	chr14:55519400-55520000	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr14:55519400-55520000	Flanking Active TSS	Fetal Kidney	kidney
23	chr14:55519400-55520000	Weak transcription	Small Intestine	intestine
24	chr14:55519400-55520000	Flanking Active TSS	HUVEC	blood vessel
25	chr14:55519400-55520200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:55519400-55520200	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:55519400-55520200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:55519400-55520200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:55519400-55520200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:55519400-55520200	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr14:55519400-55520400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr14:55519400-55520400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:55519400-55520400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:55519400-55520400	Weak transcription	Gastric	stomach
35	chr14:55519400-55520400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:55519400-55520600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:55519400-55520600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:55519400-55520800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
39	chr14:55519400-55524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:55519400-55524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:55519400-55529200	Weak transcription	Pancreas	Pancrea
42	chr14:55519600-55520000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr14:55519600-55520000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:55519600-55520000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:55519600-55520000	Enhancers	Primary B cells from cord blood	blood
46	chr14:55519600-55520000	Enhancers	Primary T cells from cord blood	blood
47	chr14:55519600-55520000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:55519600-55520000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:55519600-55520000	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr14:55519600-55520000	Flanking Active TSS	Fetal Heart	heart

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