Variant report

Variant	rs2237293
Chromosome Location	chr7:13948179-13948180
allele	C/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	CEBPB	chr7:13948119-13948927	HCT-116	colon:	n/a	chr7:13948234-13948247
2	TCF7L2	chr7:13948176-13948953	HEK293	kidney:	n/a	n/a
3	POLR2A	chr7:13947777-13951009	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr7:13948114-13948637	PFSK-1	brain:	n/a	n/a
5	CEBPB	chr7:13948068-13949024	HCT-116	colon:	n/a	chr7:13948234-13948247

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:13946657..13948257-chr7:13950013..13952270,2	K562	blood:
2	chr7:13940952..13942572-chr7:13946206..13948609,2	K562	blood:

Variant related genes	Relation type
ETV1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1859508	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2158580	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2282880	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3801093	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6461057	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv606277	chr7:13907827-13967377	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv606278	chr7:13931182-13959406	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13930600-13948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:13930800-13951800	Weak transcription	Fetal Kidney	kidney
3	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:13932000-13952800	Weak transcription	Adipose Nuclei	Adipose
5	chr7:13932200-13949600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:13932200-13949600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:13933800-13983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:13934200-13968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:13934800-13959800	Weak transcription	Pancreas	Pancrea
10	chr7:13935000-13948400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:13935800-13951600	Weak transcription	Aorta	Aorta
12	chr7:13938400-13948400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:13939200-13952200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:13939400-13951200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:13942000-13948400	Weak transcription	Fetal Brain Female	brain
16	chr7:13943000-13948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:13943600-13949600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:13944400-13958600	Weak transcription	NHLF	lung
19	chr7:13944600-13948400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:13944600-13948400	Weak transcription	Osteobl	bone
21	chr7:13945000-13948200	Weak transcription	NH-A	brain
22	chr7:13945000-13948400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:13945200-13950800	Weak transcription	Fetal Heart	heart
24	chr7:13945400-13948800	Weak transcription	Fetal Brain Male	brain
25	chr7:13945600-13974400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:13945800-13948800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:13946200-13948400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:13946200-13948400	Weak transcription	Left Ventricle	heart
29	chr7:13946200-13949000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:13946200-13951600	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:13946200-13958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:13946200-13959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:13946200-13969200	Weak transcription	Liver	Liver
34	chr7:13946400-13948400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:13946400-13948600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:13946400-13948600	Weak transcription	Fetal Lung	lung
37	chr7:13947200-13948200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:13947200-13949400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr7:13947400-13951600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:13947400-13952800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:13947400-13953000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:13947600-13949200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:13947800-13948200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:13947800-13948800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:13947800-13949000	Enhancers	NHDF-Ad	bronchial
46	chr7:13947800-13949200	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:13948000-13948200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr7:13948000-13949000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:13948000-13949000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr7:13948000-13949200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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