Variant report

Variant	rs45617531
Chromosome Location	chr2:171675063-171675064
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

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	CTBP2	chr2:171672114-171675650	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr2:171674924-171675452	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF263	chr2:171674773-171675402	HEK293-T-REx	kidney:	n/a	n/a
5	POLR2A	chr2:171674888-171675561	PBDE	blood:	n/a	n/a
6	SIN3A	chr2:171674958-171675413	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr2:171673406-171675580	H1-hESC	embryonic stem cell:	n/a	n/a
8	ELF1	chr2:171674734-171675328	GM12878	blood:	n/a	n/a
9	REST	chr2:171674690-171675632	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr2:171669237-171676101	H1-neurons	neurons:	n/a	n/a
11	YY1	chr2:171674925-171675412	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr2:171674886-171675103	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

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

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10048650	1.00[EUR][1000 genomes]
rs1362496	1.00[EUR][1000 genomes]
rs1420389	1.00[EUR][1000 genomes]
rs1420390	1.00[EUR][1000 genomes]
rs1548903	1.00[EUR][1000 genomes]
rs2883887	1.00[EUR][1000 genomes]
rs34856125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45447099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721280	1.00[EUR][1000 genomes]
rs6733154	1.00[EUR][1000 genomes]
rs6749003	1.00[EUR][1000 genomes]
rs73023326	1.00[EUR][1000 genomes]
rs7597182	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171669600-171675400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr2:171670200-171676200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr2:171670400-171676600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:171671400-171675200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:171671400-171675400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:171671800-171675400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:171672000-171675200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
8	chr2:171672000-171675600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:171672200-171675200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:171672200-171675400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:171672200-171675400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:171672400-171675400	Active TSS	Aorta	Aorta
13	chr2:171672400-171675600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:171672400-171675600	Bivalent Enhancer	Spleen	Spleen
15	chr2:171672400-171676400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:171672800-171675200	Bivalent/Poised TSS	NHLF	lung
17	chr2:171673000-171675200	Active TSS	NHDF-Ad	bronchial
18	chr2:171673000-171675600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr2:171673000-171675600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
20	chr2:171673000-171675600	Bivalent/Poised TSS	HSMM	muscle
21	chr2:171673000-171676200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:171673200-171675600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:171673200-171675600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:171673200-171675600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
25	chr2:171673400-171675400	Transcr. at gene 5' and 3'	Right Atrium	heart
26	chr2:171673400-171675400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr2:171673400-171675600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr2:171673600-171675600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:171673800-171675200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr2:171673800-171675600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:171673800-171675600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:171673800-171675600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:171674000-171675400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
34	chr2:171674200-171675200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
35	chr2:171674200-171675400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
36	chr2:171674200-171675600	Bivalent Enhancer	Fetal Intestine Small	intestine
37	chr2:171674200-171675600	Enhancers	Lung	lung
38	chr2:171674200-171677000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr2:171674200-171677000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:171674400-171675200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:171674400-171675200	Bivalent Enhancer	Fetal Lung	lung
42	chr2:171674400-171675400	Bivalent Enhancer	Fetal Heart	heart
43	chr2:171674400-171675400	Bivalent/Poised TSS	Thymus	Thymus
44	chr2:171674400-171675600	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr2:171674400-171675600	Bivalent Enhancer	Placenta	Placenta
46	chr2:171674400-171675600	Enhancers	Pancreas	Pancrea
47	chr2:171674400-171675600	Bivalent Enhancer	Stomach Mucosa	stomach
48	chr2:171674400-171675800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr2:171674400-171676600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:171674400-171676600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood

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