Variant report

Variant	rs3742876
Chromosome Location	chr14:68087731-68087732
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68086079-68087744	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr14:68086098-68087778	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr14:68085519-68088093	MCF10A-Er-Src	breast:	n/a	n/a
4	TAF1	chr14:68086319-68087970	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr14:68085868-68088060	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr14:68085375-68088227	H1-neurons	neurons:	n/a	chr14:68086528-68086538 chr14:68086499-68086512

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
2	chr14:68081591..68084164-chr14:68086995..68089181,2	K562	blood:
3	chr14:68087492..68090033-chr14:68140902..68143299,2	K562	blood:
4	chr14:68087309..68089150-chr14:68130477..68132954,2	K562	blood:
5	chr14:68087429..68090959-chr14:68140902..68143927,4	K562	blood:
6	chr14:68083940..68088003-chr14:68160289..68162917,5	K562	blood:
7	chr14:68087557..68089288-chr14:68096607..68098723,2	K562	blood:
8	chr14:68065533..68067898-chr14:68086654..68089518,2	K562	blood:
9	chr14:68086481..68089265-chr14:68117411..68120883,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201529	TF binding region
ENSG00000100568	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000258626	Chromatin interaction
ENSG00000259648	Chromatin interaction
ENSG00000201529	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10131493	0.98[ASN][1000 genomes]
rs10131878	0.98[ASN][1000 genomes]
rs10131884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10131990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10134923	0.98[ASN][1000 genomes]
rs10136402	0.98[ASN][1000 genomes]
rs10137882	0.98[ASN][1000 genomes]
rs10139933	0.98[ASN][1000 genomes]
rs10140733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10146550	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10148991	0.98[ASN][1000 genomes]
rs11844904	0.82[CHB][hapmap]
rs17104480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17104482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28449642	0.98[ASN][1000 genomes]
rs28575699	0.98[ASN][1000 genomes]
rs3759760	0.98[ASN][1000 genomes]
rs3759761	0.98[ASN][1000 genomes]
rs3759764	0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7157923	0.86[JPT][hapmap]
rs7359109	0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68085800-68087800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:68086000-68087800	Active TSS	Brain Hippocampus Middle	brain
3	chr14:68086000-68088000	Active TSS	Psoas Muscle	Psoas
4	chr14:68086000-68088000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr14:68086400-68088000	Active TSS	Brain Angular Gyrus	brain
6	chr14:68087000-68087800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:68087000-68088000	Flanking Active TSS	NHEK	skin
8	chr14:68087200-68087800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:68087200-68087800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:68087200-68087800	Flanking Active TSS	HepG2	liver
11	chr14:68087200-68088000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:68087200-68088000	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr14:68087200-68089200	Weak transcription	HSMMtube	muscle
14	chr14:68087200-68109600	Weak transcription	Gastric	stomach
15	chr14:68087200-68112400	Weak transcription	Aorta	Aorta
16	chr14:68087400-68087800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr14:68087400-68087800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:68087400-68087800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr14:68087400-68087800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr14:68087400-68087800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr14:68087400-68087800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr14:68087400-68087800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr14:68087400-68087800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:68087400-68087800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:68087400-68087800	Flanking Active TSS	Fetal Heart	heart
26	chr14:68087400-68087800	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr14:68087400-68087800	Bivalent Enhancer	Thymus	Thymus
28	chr14:68087400-68087800	Bivalent Enhancer	A549	lung
29	chr14:68087400-68087800	Active TSS	Hela-S3	cervix
30	chr14:68087400-68087800	Enhancers	Osteobl	bone
31	chr14:68087400-68088000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
32	chr14:68087400-68088000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr14:68087400-68088000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr14:68087400-68088000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:68087400-68088000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:68087400-68088000	Flanking Active TSS	Fetal Brain Male	brain
37	chr14:68087400-68088200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:68087400-68088200	Enhancers	NHDF-Ad	bronchial
39	chr14:68087400-68089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:68087400-68089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:68087400-68089000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:68087400-68089400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:68087400-68089400	Weak transcription	HSMM	muscle
44	chr14:68087600-68087800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
45	chr14:68087600-68087800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:68087600-68087800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:68087600-68087800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:68087600-68087800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr14:68087600-68087800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:68087600-68087800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood

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