Variant report

Variant	rs3791874
Chromosome Location	chr2:171677223-171677224
allele	G/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	CTBP2	chr2:171676326-171681103	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:171677005-171680495	H1-neurons	neurons:	n/a	n/a
3	E2F6	chr2:171676207-171677236	H1-hESC	embryonic stem cell:	n/a	chr2:171676654-171676666 chr2:171676600-171676607 chr2:171676655-171676662 chr2:171676462-171676474 chr2:171676574-171676586 chr2:171676965-171676972 chr2:171676655-171676662 chr2:171676655-171676662
4	E2F6	chr2:171676158-171677689	H1-hESC	embryonic stem cell:	n/a	chr2:171676654-171676666 chr2:171676600-171676607 chr2:171676655-171676662 chr2:171676462-171676474 chr2:171676574-171676586 chr2:171676965-171676972 chr2:171676655-171676662 chr2:171676655-171676662
5	MAX	chr2:171676249-171677299	H1-hESC	embryonic stem cell:	n/a	chr2:171676824-171676831 chr2:171676823-171676832 chr2:171676899-171676910 chr2:171676823-171676832 chr2:171676895-171676914 chr2:171676900-171676910 chr2:171676823-171676833
6	SUZ12	chr2:171676388-171680031	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr2:171676327-171677327	H1-hESC	embryonic stem cell:	n/a	chr2:171676824-171676831 chr2:171676823-171676832 chr2:171676899-171676910 chr2:171676823-171676832 chr2:171676895-171676914 chr2:171676900-171676910 chr2:171676823-171676833
8	GATA1	chr2:171677081-171680037	PBDE	blood:	n/a	chr2:171679713-171679722 chr2:171679319-171679327 chr2:171678862-171678872 chr2:171679660-171679673

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

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12185692	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1420385	0.97[ASN][1000 genomes]
rs36019625	0.83[AMR][1000 genomes]
rs3749035	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3791866	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3791867	0.83[AMR][1000 genomes]
rs3791869	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3791870	0.85[EUR][1000 genomes];0.97[ASN][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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171674400-171677800	Bivalent Enhancer	Fetal Intestine Large	intestine
2	chr2:171674400-171682200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:171674600-171677600	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr2:171675600-171677600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr2:171675600-171678000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:171675600-171678200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:171676200-171677400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr2:171676200-171679400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
9	chr2:171676400-171677400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
10	chr2:171676400-171677400	Bivalent Enhancer	Left Ventricle	heart
11	chr2:171676400-171677600	Enhancers	Spleen	Spleen
12	chr2:171676400-171677800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:171676400-171679000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr2:171676400-171679000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
15	chr2:171676400-171679200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr2:171676400-171679400	Bivalent Enhancer	Fetal Thymus	thymus
17	chr2:171676400-171679600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr2:171676400-171679800	Bivalent Enhancer	Fetal Stomach	stomach
19	chr2:171676600-171677400	Bivalent Enhancer	Fetal Heart	heart
20	chr2:171676600-171677600	Bivalent Enhancer	Psoas Muscle	Psoas
21	chr2:171676600-171677800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:171676600-171678000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:171676600-171679400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
24	chr2:171676600-171679400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
25	chr2:171676800-171677400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:171676800-171677400	Enhancers	Pancreas	Pancrea
27	chr2:171676800-171677600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:171676800-171677600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr2:171676800-171677600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr2:171676800-171677600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:171676800-171677600	Bivalent/Poised TSS	Thymus	Thymus
32	chr2:171676800-171677600	Bivalent Enhancer	HUVEC	blood vessel
33	chr2:171676800-171677800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
34	chr2:171676800-171677800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr2:171676800-171677800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
36	chr2:171676800-171677800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr2:171676800-171677800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr2:171676800-171677800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr2:171676800-171678000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
40	chr2:171676800-171678000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:171676800-171678000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
42	chr2:171676800-171678000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr2:171676800-171678000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr2:171676800-171678200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
45	chr2:171676800-171678400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:171676800-171678400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr2:171676800-171678800	Flanking Active TSS	Right Ventricle	heart
48	chr2:171676800-171679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:171676800-171679200	Bivalent Enhancer	Lung	lung
50	chr2:171676800-171679600	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links