Variant report

Variant	rs8009078
Chromosome Location	chr14:97207473-97207474
allele	C/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	CTCF	chr14:97207233-97208683	SK-N-SH	brain:	n/a	chr14:97207934-97207950 chr14:97208174-97208184 chr14:97208173-97208186
2	MYC	chr14:97207459-97207543	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF384	chr14:97207404-97207904	GM12878	blood:	n/a	n/a
4	CTCF	chr14:97207400-97207550	AG10803	skin:	n/a	n/a
5	CTCF	chr14:97207397-97208189	A549	lung:	n/a	chr14:97207934-97207950 chr14:97208174-97208184 chr14:97208173-97208186
6	MAX	chr14:97207428-97208167	MCF-7	breast:	n/a	chr14:97208039-97208049
7	RAD21	chr14:97207473-97208203	HCT-116	colon:	n/a	chr14:97208172-97208185
8	ZNF384	chr14:97207322-97207556	K562	blood:	n/a	n/a
9	SMC3	chr14:97207321-97208310	SK-N-SH	brain:	n/a	chr14:97207935-97207949 chr14:97208173-97208183
10	RAD21	chr14:97207012-97208282	SK-N-SH	brain:	n/a	chr14:97208172-97208185
11	CTCF	chr14:97207465-97208161	HCT-116	colon:	n/a	chr14:97207934-97207950

Variant related genes	Relation type
ENSG00000258979	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10136975	0.86[ASN][1000 genomes]
rs10139304	0.81[ASN][1000 genomes]
rs10139694	0.86[ASN][1000 genomes]
rs10143101	0.84[ASN][1000 genomes]
rs10143369	0.86[ASN][1000 genomes]
rs10146854	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11160362	0.84[ASN][1000 genomes]
rs11160363	0.86[ASN][1000 genomes]
rs12147403	0.83[ASN][1000 genomes]
rs12434260	0.86[ASN][1000 genomes]
rs12880425	0.82[ASN][1000 genomes]
rs12895746	0.86[ASN][1000 genomes]
rs1951837	0.81[ASN][1000 genomes]
rs28670537	0.86[ASN][1000 genomes]
rs2887581	0.86[ASN][1000 genomes]
rs34142794	0.86[ASN][1000 genomes]
rs34344944	0.81[ASN][1000 genomes]
rs34742182	0.81[ASN][1000 genomes]
rs35981455	0.81[ASN][1000 genomes]
rs4243716	0.86[ASN][1000 genomes]
rs59880225	0.81[ASN][1000 genomes]
rs66487336	0.86[ASN][1000 genomes]
rs71415050	0.86[ASN][1000 genomes]
rs7157651	0.84[ASN][1000 genomes]
rs737209	0.84[ASN][1000 genomes]
rs8012361	0.82[ASN][1000 genomes]
rs8015493	0.86[ASN][1000 genomes]
rs912343	0.84[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	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv85164	chr14:97207464-97209699	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 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	chr14:97203400-97207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:97206200-97208800	Enhancers	Fetal Brain Male	brain
3	chr14:97206400-97207600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:97206800-97208400	Bivalent/Poised TSS	HSMM	muscle
5	chr14:97207000-97207800	Flanking Active TSS	Fetal Brain Female	brain
6	chr14:97207200-97207600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:97207200-97207600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr14:97207200-97207600	Bivalent Enhancer	Brain Hippocampus Middle	brain
9	chr14:97207400-97207600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
10	chr14:97207400-97207600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:97207400-97207600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:97207400-97207600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:97207400-97207600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:97207400-97207600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr14:97207400-97207600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr14:97207400-97207600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:97207400-97207600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
18	chr14:97207400-97207600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:97207400-97207600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
20	chr14:97207400-97207600	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chr14:97207400-97207600	Enhancers	Liver	Liver
22	chr14:97207400-97207600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
23	chr14:97207400-97207600	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr14:97207400-97207600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
25	chr14:97207400-97207600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
26	chr14:97207400-97207600	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr14:97207400-97207600	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr14:97207400-97207600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr14:97207400-97207600	Bivalent Enhancer	Fetal Thymus	thymus
30	chr14:97207400-97207600	Bivalent Enhancer	Rectal Smooth Muscle	rectum
31	chr14:97207400-97207600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr14:97207400-97207600	Bivalent Enhancer	Dnd41	blood
33	chr14:97207400-97207600	Bivalent Enhancer	HMEC	breast
34	chr14:97207400-97207600	Bivalent/Poised TSS	NHDF-Ad	bronchial
35	chr14:97207400-97207800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:97207400-97207800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr14:97207400-97207800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr14:97207400-97207800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
39	chr14:97207400-97207800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
40	chr14:97207400-97207800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:97207400-97207800	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
42	chr14:97207400-97207800	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
43	chr14:97207400-97207800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:97207400-97207800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
45	chr14:97207400-97207800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr14:97207400-97207800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:97207400-97207800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:97207400-97207800	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr14:97207400-97207800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr14:97207400-97207800	Bivalent Enhancer	Fetal Heart	heart

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