Variant report

Variant	rs55842248
Chromosome Location	chr14:72916647-72916648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10139942	0.88[ASN][1000 genomes]
rs1544524	0.82[ASN][1000 genomes]
rs1860153	0.88[ASN][1000 genomes]
rs2238181	0.82[ASN][1000 genomes]
rs2238191	0.80[ASN][1000 genomes]
rs2283381	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55796797	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55833027	0.84[ASN][1000 genomes]
rs72726132	0.91[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72908400-72917600	Weak transcription	Lung	lung
2	chr14:72911800-72917200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:72911800-72917200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:72911800-72917600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:72912000-72917000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:72912000-72917200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:72912000-72917400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:72912200-72917400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:72913600-72917400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:72913800-72922600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:72916000-72917800	Enhancers	Brain Germinal Matrix	brain
12	chr14:72916200-72917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:72916200-72917600	Enhancers	GM12878-XiMat	blood
14	chr14:72916200-72920000	Enhancers	Fetal Stomach	stomach
15	chr14:72916400-72917400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:72916400-72917400	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:72916400-72917600	Enhancers	Dnd41	blood
18	chr14:72916400-72917800	Enhancers	Primary T cells from cord blood	blood
19	chr14:72916400-72919800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:72916600-72917600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:72916600-72917600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:72916600-72917600	Weak transcription	Left Ventricle	heart
23	chr14:72916600-72919000	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links