Variant report

Variant	rs3759756
Chromosome Location	chr14:67829147-67829148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr14:67829125-67829421	K562	blood:	n/a	n/a
2	GATA1	chr14:67828974-67829590	PBDE	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67817307..67820185-chr14:67826327..67829228,3	MCF-7	breast:
2	chr14:67824897..67826602-chr14:67827148..67830067,2	K562	blood:
3	chr14:67827591..67829448-chr14:67838865..67841806,2	MCF-7	breast:
4	chr14:67706908..67708667-chr14:67827464..67829179,2	K562	blood:
5	chr14:67635759..67637841-chr14:67827826..67830640,3	K562	blood:

No data

Variant related genes	Relation type
EIF2S1	TF binding region
ATP6V1D	TF binding region
ENSG00000100554	Chromatin interaction
ENSG00000072415	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1813	0.87[ASN][1000 genomes]
rs57259066	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs58979599	0.90[ASN][1000 genomes]
rs60541082	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72717368	0.86[ASN][1000 genomes]
rs72717369	0.86[ASN][1000 genomes]
rs72717382	0.90[ASN][1000 genomes]
rs72717385	0.90[ASN][1000 genomes]
rs72717392	0.90[ASN][1000 genomes]
rs72717399	0.97[ASN][1000 genomes]
rs72717401	0.97[ASN][1000 genomes]
rs72719111	0.97[ASN][1000 genomes]
rs72719118	0.97[ASN][1000 genomes]
rs72719125	0.97[ASN][1000 genomes]
rs72719127	0.97[ASN][1000 genomes]
rs72719128	0.97[ASN][1000 genomes]
rs72719133	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67824200-67829600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:67824200-67829600	Active TSS	K562	blood
3	chr14:67825400-67829800	Active TSS	Psoas Muscle	Psoas
4	chr14:67827800-67829200	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:67827800-67829200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr14:67827800-67829200	Weak transcription	Pancreas	Pancrea
7	chr14:67827800-67831400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:67827800-67831400	Weak transcription	Left Ventricle	heart
9	chr14:67827800-67831400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:67827800-67831600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:67827800-67831800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:67827800-67832800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:67827800-67833600	Weak transcription	Lung	lung
14	chr14:67827800-67834000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:67827800-67834000	Weak transcription	Gastric	stomach
16	chr14:67827800-67834800	Weak transcription	Esophagus	oesophagus
17	chr14:67828000-67829200	Weak transcription	Placenta	Placenta
18	chr14:67828000-67829600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:67828000-67829800	Enhancers	Fetal Heart	heart
20	chr14:67828000-67832000	Weak transcription	Colonic Mucosa	Colon
21	chr14:67828200-67829200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:67828200-67829200	Enhancers	HSMM	muscle
23	chr14:67828200-67829600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:67828200-67829600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr14:67828200-67829600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr14:67828200-67829600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr14:67828200-67829800	Genic enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:67828200-67830200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr14:67828200-67830400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:67828200-67831400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:67828200-67831400	Weak transcription	Fetal Muscle Leg	muscle
32	chr14:67828200-67831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:67828200-67831600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr14:67828200-67833600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:67828200-67841600	Weak transcription	Aorta	Aorta
36	chr14:67828400-67829200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:67828400-67829200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:67828400-67829200	Enhancers	Liver	Liver
39	chr14:67828400-67829200	Weak transcription	Stomach Mucosa	stomach
40	chr14:67828400-67829400	Enhancers	Brain Germinal Matrix	brain
41	chr14:67828400-67829400	Enhancers	Fetal Intestine Large	intestine
42	chr14:67828400-67829600	Enhancers	Primary hematopoietic stem cells	blood
43	chr14:67828400-67829600	Enhancers	Brain Cingulate Gyrus	brain
44	chr14:67828400-67829600	Enhancers	Fetal Brain Female	brain
45	chr14:67828400-67829800	Enhancers	Fetal Lung	lung
46	chr14:67828400-67830400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr14:67828400-67831000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr14:67828400-67831200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr14:67828400-67831400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:67828400-67831400	Weak transcription	HSMMtube	muscle

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