Variant report

Variant	rs3791875
Chromosome Location	chr2:171676799-171676800
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	CCNT2	chr2:171676799-171676806	K562	blood:	n/a	n/a
3	SIN3A	chr2:171676692-171677149	H1-hESC	embryonic stem cell:	n/a	chr2:171677022-171677033
4	MAX	chr2:171676700-171677057	SK-N-SH	brain:	n/a	chr2:171676824-171676831 chr2:171676823-171676832 chr2:171676899-171676910 chr2:171676823-171676832 chr2:171676895-171676914 chr2:171676900-171676910 chr2:171676823-171676833
5	MAX	chr2:171676289-171677127	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	TEAD4	chr2:171676571-171676914	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr2:171676305-171677000	H1-hESC	embryonic stem cell:	n/a	chr2:171676965-171676972 chr2:171676600-171676607
8	BACH1	chr2:171676735-171676871	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF1	chr2:171676641-171677010	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr2:171676719-171676874	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:171676780-171676930	SK-N-SH_RA	brain:	n/a	n/a
12	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
13	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
14	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
15	SUZ12	chr2:171676388-171680031	H1-hESC	embryonic stem cell:	n/a	n/a
16	TCF12	chr2:171676670-171676956	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr2:171676695-171676957	SK-N-SH_RA	brain:	n/a	n/a
18	TEAD4	chr2:171676531-171677026	H1-hESC	embryonic stem cell:	n/a	n/a
19	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
20	MAFK	chr2:171676731-171676946	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF2	chr2:171676682-171677022	H1-hESC	embryonic stem cell:	n/a	n/a
22	MXI1	chr2:171676653-171677070	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:171676111-171676854	H1-neurons	neurons:	n/a	n/a
24	MYC	chr2:171676644-171677026	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
25	USF1	chr2:171676591-171677032	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr2:171676542-171676946	H1-hESC	embryonic stem cell:	n/a	chr2:171676671-171676689 chr2:171676720-171676738

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
ENSG00000128683	Chromatin interaction
ENSG00000235934	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17700773	0.80[AMR][1000 genomes]
rs17751683	0.80[AMR][1000 genomes]
rs3762557	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3762558	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3762560	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3762561	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3791862	0.93[ASN][1000 genomes]
rs3791864	0.97[ASN][1000 genomes]
rs3791865	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3791873	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3791876	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3791877	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3791879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3791880	0.98[ASN][1000 genomes]
rs3828274	0.87[ASN][1000 genomes]
rs41393845	0.80[AMR][1000 genomes]
rs45465192	0.80[AMR][1000 genomes]
rs45473292	0.80[AMR][1000 genomes]
rs45486908	0.80[AMR][1000 genomes]
rs45537832	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4668322	0.80[AMR][1000 genomes]
rs57026097	0.97[ASN][1000 genomes]
rs6718345	0.88[ASN][1000 genomes]
rs6755102	0.98[ASN][1000 genomes]
rs6755370	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6755371	0.87[AFR][1000 genomes];0.98[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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171674200-171677000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr2:171674200-171677000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:171674400-171677800	Bivalent Enhancer	Fetal Intestine Large	intestine
4	chr2:171674400-171682200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:171674600-171677000	Bivalent Enhancer	Liver	Liver
6	chr2:171674600-171677200	Weak transcription	K562	blood
7	chr2:171674600-171677600	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr2:171675200-171676800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:171675200-171676800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
10	chr2:171675200-171676800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
11	chr2:171675400-171676800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr2:171675400-171676800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:171675400-171676800	Weak transcription	Gastric	stomach
14	chr2:171675400-171676800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr2:171675600-171676800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:171675600-171676800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:171675600-171676800	Weak transcription	Pancreas	Pancrea
18	chr2:171675600-171677600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr2:171675600-171678000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:171675600-171678200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:171675800-171677000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:171676000-171676800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr2:171676000-171676800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr2:171676000-171677000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr2:171676200-171676800	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr2:171676200-171676800	Enhancers	Right Ventricle	heart
27	chr2:171676200-171677000	Bivalent Enhancer	Colon Smooth Muscle	Colon
28	chr2:171676200-171677200	Enhancers	Ovary	ovary
29	chr2:171676200-171677400	Bivalent Enhancer	Fetal Brain Male	brain
30	chr2:171676200-171679400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr2:171676400-171676800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr2:171676400-171676800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:171676400-171676800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
34	chr2:171676400-171676800	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr2:171676400-171676800	Bivalent Enhancer	Esophagus	oesophagus
36	chr2:171676400-171676800	Bivalent Enhancer	Thymus	Thymus
37	chr2:171676400-171677000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:171676400-171677000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:171676400-171677000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
40	chr2:171676400-171677000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
41	chr2:171676400-171677000	Enhancers	Right Atrium	heart
42	chr2:171676400-171677200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr2:171676400-171677200	Bivalent Enhancer	Brain Hippocampus Middle	brain
44	chr2:171676400-171677400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr2:171676400-171677400	Bivalent Enhancer	Left Ventricle	heart
46	chr2:171676400-171677600	Enhancers	Spleen	Spleen
47	chr2:171676400-171677800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:171676400-171679000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr2:171676400-171679000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
50	chr2:171676400-171679200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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