Variant report

Variant	rs2319842
Chromosome Location	chr14:68003643-68003644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67997632..68001958-chr14:68003230..68007409,7	K562	blood:
2	chr14:67997232..68003099-chr14:68003235..68008915,12	K562	blood:
3	chr14:67966981..67969114-chr14:68003205..68004722,2	MCF-7	breast:
4	chr14:67998732..68001338-chr14:68002950..68004580,2	MCF-7	breast:
5	chr14:67992735..67994453-chr14:68001902..68004897,2	MCF-7	breast:
6	chr14:67995220..67996919-chr14:68003056..68004904,2	MCF-7	breast:
7	chr14:67981602..67983778-chr14:68002059..68004467,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17782224	0.90[EUR][1000 genomes]
rs4902487	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67138363	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155887	0.92[EUR][1000 genomes]
rs753683	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9972155	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68000600-68005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:68000600-68007000	Weak transcription	Lung	lung
4	chr14:68000800-68004200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:68000800-68004800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:68000800-68005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:68000800-68005000	Weak transcription	Adipose Nuclei	Adipose
8	chr14:68000800-68005000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:68000800-68005400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:68000800-68011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:68000800-68013000	Weak transcription	A549	lung
12	chr14:68001000-68004400	Weak transcription	HMEC	breast
13	chr14:68001000-68004800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:68001000-68004800	Weak transcription	NHEK	skin
15	chr14:68001000-68005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:68001000-68005200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:68001000-68005200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:68001000-68005200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:68001000-68005400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:68001000-68005800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:68001000-68007600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:68001000-68008000	Weak transcription	K562	blood
23	chr14:68001000-68010600	Weak transcription	Hela-S3	cervix
24	chr14:68001000-68024400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:68001200-68004400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:68001200-68004600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:68001200-68005000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:68001200-68007400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:68001400-68005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:68001400-68007600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:68001400-68028400	Weak transcription	Brain Germinal Matrix	brain
32	chr14:68001600-68008800	Weak transcription	Fetal Brain Female	brain
33	chr14:68001800-68007000	Weak transcription	Fetal Intestine Large	intestine
34	chr14:68001800-68023600	Weak transcription	HepG2	liver
35	chr14:68002000-68006400	Weak transcription	Fetal Intestine Small	intestine
36	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
37	chr14:68002400-68005000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:68003200-68005000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:68003200-68008200	Weak transcription	Pancreas	Pancrea
40	chr14:68003200-68008400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:68003200-68008800	Weak transcription	Placenta	Placenta
42	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
43	chr14:68003400-68004400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:68003400-68004400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:68003400-68004600	Enhancers	Brain Hippocampus Middle	brain
46	chr14:68003400-68005000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr14:68003400-68005400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:68003600-68004000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:68003600-68004000	Weak transcription	Brain Angular Gyrus	brain
50	chr14:68003600-68004000	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links