Variant report

Variant	rs2057335
Chromosome Location	chr14:35834276-35834277
allele	G/T
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	JUN	chr14:35834275-35837620	K562	blood:	n/a	chr14:35835528-35835536 chr14:35834851-35834860 chr14:35836358-35836366 chr14:35835528-35835536 chr14:35835529-35835536 chr14:35836354-35836365 chr14:35834867-35834877
2	STAT3	chr14:35834255-35835224	MCF10A-Er-Src	breast:	n/a	chr14:35835050-35835059 chr14:35835045-35835065 chr14:35835090-35835101 chr14:35835051-35835060
3	USF1	chr14:35834233-35834613	A549	lung:	n/a	chr14:35834441-35834452
4	MAX	chr14:35834197-35836101	HepG2	liver:	n/a	chr14:35835527-35835536
5	MAX	chr14:35834276-35835329	A549	lung:	n/a	n/a
6	MYBL2	chr14:35834100-35835224	HepG2	liver:	n/a	n/a
7	MAZ	chr14:35834181-35836269	IMR90	lung:	n/a	chr14:35835527-35835536

No.	Distal block	Cell Line	Cell type
1	chr14:35816577..35819351-chr14:35832841..35834841,2	K562	blood:
2	chr14:35832015..35837880-chr14:35867331..35875279,15	K562	blood:
3	chr14:35821826..35833396-chr14:35833928..35840799,21	K562	blood:
4	chr14:35761614..35764239-chr14:35833257..35835376,2	K562	blood:
5	chr14:35833474..35838463-chr14:35839143..35843538,8	K562	blood:
6	chr14:35833202..35845291-chr14:35869974..35876968,23	K562	blood:
7	chr14:35761154..35763543-chr14:35833265..35835694,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258860	TF binding region
ENSG00000100902	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000258860	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12879818	0.90[ASN][1000 genomes]
rs12891895	0.90[ASN][1000 genomes]
rs12892278	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2145623	0.90[EUR][1000 genomes]
rs55990853	0.81[AFR][1000 genomes]
rs7140505	0.89[ASN][1000 genomes]
rs7149937	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7155561	0.84[AFR][1000 genomes]
rs7155714	0.84[AFR][1000 genomes]
rs7156541	0.81[AFR][1000 genomes]
rs8015219	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv528501	chr14:35825436-35840678	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35817200-35834400	Weak transcription	Esophagus	oesophagus
2	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:35822400-35834400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:35822400-35834600	Weak transcription	Gastric	stomach
5	chr14:35822600-35836400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:35825600-35834400	Weak transcription	Left Ventricle	heart
7	chr14:35825600-35835200	Weak transcription	Aorta	Aorta
8	chr14:35826000-35834400	Weak transcription	Fetal Kidney	kidney
9	chr14:35826000-35834400	Weak transcription	Thymus	Thymus
10	chr14:35826200-35834400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:35826200-35834400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:35827600-35836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:35830600-35834400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:35830600-35836200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:35831600-35834400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:35831600-35834400	Enhancers	NHDF-Ad	bronchial
17	chr14:35831600-35837800	Enhancers	Osteobl	bone
18	chr14:35831600-35839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:35831600-35839400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:35831800-35834400	Weak transcription	Pancreas	Pancrea
21	chr14:35831800-35838000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:35832000-35836600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:35832400-35834400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:35832400-35834400	Weak transcription	Colonic Mucosa	Colon
25	chr14:35832400-35834400	Weak transcription	Fetal Heart	heart
26	chr14:35832400-35834400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:35832400-35834400	Weak transcription	Right Ventricle	heart
28	chr14:35832400-35834600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:35832400-35834800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:35832400-35836000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:35832400-35836000	Weak transcription	Liver	Liver
32	chr14:35832600-35834400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:35832600-35834400	Weak transcription	Ovary	ovary
34	chr14:35832600-35834400	Weak transcription	HSMM	muscle
35	chr14:35832800-35834400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:35832800-35834400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:35832800-35834400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:35832800-35834400	Weak transcription	Brain Anterior Caudate	brain
39	chr14:35832800-35834400	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:35832800-35834400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:35832800-35834400	Weak transcription	Brain Substantia Nigra	brain
42	chr14:35832800-35834400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:35832800-35834400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:35832800-35834400	Weak transcription	GM12878-XiMat	blood
45	chr14:35832800-35836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:35833000-35834400	Weak transcription	Adipose Nuclei	Adipose
47	chr14:35833000-35834400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:35833000-35834400	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:35833000-35834400	Weak transcription	Right Atrium	heart
50	chr14:35833000-35834400	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links