Variant report

Variant	rs45447099
Chromosome Location	chr2:171676009-171676010
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	POLR2A	chr2:171669667-171676754	H1-neurons	neurons:	n/a	n/a
2	GATA1	chr2:171675113-171676376	PBDE	blood:	n/a	chr2:171675983-171675994
3	POLR2A	chr2:171675967-171676091	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:171669237-171676101	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:171675485..171677773-chr2:171677982..171679731,3	K562	blood:
2	chr2:171671156..171674030-chr2:171674159..171676823,3	K562	blood:
3	chr2:171673426..171677773-chr2:171677821..171680534,5	K562	blood:

Variant related genes	Relation type
ENSG00000235934	TF binding region
GAD1	TF binding region
ENSG00000235934	Chromatin interaction
ENSG00000128683	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34100397	1.00[EUR][1000 genomes]
rs34856125	1.00[AMR][1000 genomes]
rs45617531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6750787	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806894	chr2:171651783-171679041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv528929	chr2:171672191-171678379	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171670200-171676200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
2	chr2:171670400-171676600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:171672400-171676400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:171673000-171676200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:171674200-171677000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr2:171674200-171677000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:171674400-171676600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:171674400-171676600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr2:171674400-171677800	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr2:171674400-171682200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:171674600-171676400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
12	chr2:171674600-171676600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr2:171674600-171677000	Bivalent Enhancer	Liver	Liver
14	chr2:171674600-171677200	Weak transcription	K562	blood
15	chr2:171674600-171677600	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr2:171674800-171676200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
17	chr2:171675200-171676800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:171675200-171676800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr2:171675200-171676800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
20	chr2:171675400-171676400	Weak transcription	Right Atrium	heart
21	chr2:171675400-171676600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr2:171675400-171676800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr2:171675400-171676800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:171675400-171676800	Weak transcription	Gastric	stomach
25	chr2:171675400-171676800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr2:171675600-171676400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr2:171675600-171676400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:171675600-171676400	Bivalent Enhancer	Primary T cells from cord blood	blood
29	chr2:171675600-171676400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:171675600-171676800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:171675600-171676800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:171675600-171676800	Weak transcription	Pancreas	Pancrea
33	chr2:171675600-171677600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr2:171675600-171678000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:171675600-171678200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:171675800-171676200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr2:171675800-171676200	Weak transcription	Right Ventricle	heart
38	chr2:171675800-171676400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:171675800-171677000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr2:171676000-171676200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
41	chr2:171676000-171676400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
42	chr2:171676000-171676800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr2:171676000-171676800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
44	chr2:171676000-171677000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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