Variant report

Variant	rs56140654
Chromosome Location	chr14:32412928-32412929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:32412916-32414778	A549	lung:	n/a	chr14:32414510-32414520 chr14:32413297-32413306 chr14:32413299-32413306
2	MYC	chr14:32412515-32414627	A549	lung:	n/a	chr14:32414510-32414520 chr14:32413297-32413306 chr14:32413299-32413306

Variant related genes	Relation type
ENSG00000258474	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55922146	1.00[AMR][1000 genomes]
rs56952661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60893091	1.00[AMR][1000 genomes]
rs61549350	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32404800-32413600	Weak transcription	Right Atrium	heart
2	chr14:32405000-32413800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:32405600-32414200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:32405800-32413600	Weak transcription	Placenta	Placenta
5	chr14:32406000-32413400	Weak transcription	Spleen	Spleen
6	chr14:32407400-32413000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:32407400-32413400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:32407400-32414000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:32407400-32414400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:32407400-32419800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:32408000-32413200	Weak transcription	K562	blood
12	chr14:32408600-32413200	Enhancers	A549	lung
13	chr14:32409600-32413600	Enhancers	Stomach Mucosa	stomach
14	chr14:32410600-32414600	Enhancers	Fetal Brain Female	brain
15	chr14:32411000-32414800	Enhancers	Fetal Brain Male	brain
16	chr14:32411200-32413800	Enhancers	Fetal Intestine Large	intestine
17	chr14:32411200-32414000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:32411800-32413000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr14:32411800-32413400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr14:32411800-32413600	Weak transcription	Brain Germinal Matrix	brain
21	chr14:32412000-32413800	Enhancers	Fetal Intestine Small	intestine
22	chr14:32412200-32413000	Enhancers	Small Intestine	intestine
23	chr14:32412200-32413600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:32412200-32418600	Weak transcription	NHDF-Ad	bronchial
25	chr14:32412400-32413000	Enhancers	Duodenum Mucosa	Duodenum
26	chr14:32412400-32413200	Weak transcription	Fetal Heart	heart
27	chr14:32412400-32413400	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:32412400-32414000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:32412400-32419600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:32412600-32413000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:32412600-32413400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:32412600-32413600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:32412600-32413800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:32412600-32414600	Enhancers	Fetal Muscle Trunk	muscle
35	chr14:32412600-32414600	Flanking Active TSS	HepG2	liver
36	chr14:32412800-32413200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:32412800-32413600	Enhancers	Primary T cells from cord blood	blood
38	chr14:32412800-32413600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr14:32412800-32413800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:32412800-32413800	Weak transcription	Left Ventricle	heart
41	chr14:32412800-32413800	Enhancers	Hela-S3	cervix
42	chr14:32412800-32414000	Enhancers	Colonic Mucosa	Colon
43	chr14:32412800-32416800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr14:32412800-32417400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr14:32412800-32417400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:32412800-32419800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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