Variant report

Variant	rs1851736
Chromosome Location	chr1:77747248-77747249
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	E2F6	chr1:77747217-77748911	H1-hESC	embryonic stem cell:	n/a	chr1:77748216-77748223 chr1:77748216-77748223 chr1:77747532-77747541 chr1:77748193-77748202 chr1:77747603-77747612 chr1:77747579-77747589 chr1:77747787-77747797 chr1:77748216-77748223
2	REST	chr1:77746941-77748101	H1-neurons	neurons:	n/a	chr1:77747667-77747680 chr1:77746990-77747008 chr1:77747814-77747824 chr1:77747609-77747622 chr1:77747641-77747651
3	SIN3A	chr1:77747219-77749389	H1-hESC	embryonic stem cell:	n/a	chr1:77748356-77748367 chr1:77747741-77747749 chr1:77747735-77747748
4	MXI1	chr1:77747085-77749961	SK-N-SH	brain:	n/a	chr1:77748400-77748409
5	POLR2A	chr1:77747149-77748486	H1-neurons	neurons:	n/a	n/a
6	RAD21	chr1:77747236-77748158	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:77747206-77749055	H1-hESC	embryonic stem cell:	n/a	chr1:77747533-77747543
8	MAZ	chr1:77747079-77749195	IMR90	lung:	n/a	chr1:77747533-77747543
9	POLR2A	chr1:77747191-77749083	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr1:77747206-77747743	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr1:77747175-77749220	H1-hESC	embryonic stem cell:	n/a	chr1:77748216-77748223 chr1:77748216-77748223 chr1:77747532-77747541 chr1:77748193-77748202 chr1:77747603-77747612 chr1:77747579-77747589 chr1:77747787-77747797 chr1:77748216-77748223
12	MAX	chr1:77747218-77748787	A549	lung:	n/a	chr1:77747533-77747543

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77684670..77686781-chr1:77746398..77749229,3	MCF-7	breast:

Variant related genes	Relation type
AK5	TF binding region
ENSG00000142892	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11162292	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11162293	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11162295	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167207	1.00[CEU][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs1167217	0.85[CEU][hapmap]
rs1253220	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1253221	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1463324	0.86[CEU][hapmap]
rs1721161	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1988302	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602934	0.82[CEU][hapmap]
rs2602943	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs2602945	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2602946	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2602948	1.00[CEU][hapmap];1.00[LWK][hapmap];0.87[EUR][1000 genomes]
rs2602951	0.82[CEU][hapmap]
rs2602952	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2689676	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2689683	1.00[CEU][hapmap];1.00[LWK][hapmap];0.87[EUR][1000 genomes]
rs2799550	0.82[EUR][1000 genomes]
rs2799554	0.84[EUR][1000 genomes]
rs2799555	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2799556	0.84[EUR][1000 genomes]
rs2799558	0.84[EUR][1000 genomes]
rs2799559	0.83[EUR][1000 genomes]
rs2799560	0.84[EUR][1000 genomes]
rs2799561	0.84[EUR][1000 genomes]
rs2799562	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2799563	0.85[CEU][hapmap]
rs2815309	0.87[EUR][1000 genomes]
rs2815310	0.87[EUR][1000 genomes]
rs2815311	0.87[EUR][1000 genomes]
rs2815314	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2815317	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2815319	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2815324	0.86[CEU][hapmap]
rs2815325	0.86[CEU][hapmap]
rs2815326	0.86[CEU][hapmap]
rs2815332	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4949783	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6662853	0.86[CEU][hapmap]
rs7531411	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3427970	chr1:77746994-77747339	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77737200-77747400	Weak transcription	Aorta	Aorta
2	chr1:77745200-77747800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr1:77745400-77747400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr1:77745600-77747800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr1:77745800-77747400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:77746400-77747400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:77746600-77749000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:77746800-77747600	Bivalent/Poised TSS	Fetal Kidney	kidney
9	chr1:77746800-77748400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:77746800-77749200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:77746800-77749400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:77746800-77749600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:77747000-77747400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr1:77747000-77747400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr1:77747000-77747400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr1:77747000-77747400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr1:77747000-77747400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:77747000-77747400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
19	chr1:77747000-77747400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:77747000-77747400	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr1:77747000-77748000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:77747000-77748000	Bivalent/Poised TSS	HUVEC	blood vessel
23	chr1:77747000-77748200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:77747000-77748600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:77747000-77749000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr1:77747000-77749400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:77747000-77749600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:77747000-77750400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:77747000-77750600	Active TSS	Brain Substantia Nigra	brain
30	chr1:77747200-77747400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:77747200-77747400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:77747200-77747400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:77747200-77747400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:77747200-77747400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:77747200-77747400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
36	chr1:77747200-77747400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr1:77747200-77747400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:77747200-77747400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:77747200-77747400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:77747200-77747400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:77747200-77747400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr1:77747200-77747400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:77747200-77747400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:77747200-77747400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:77747200-77747400	Bivalent Enhancer	Liver	Liver
46	chr1:77747200-77747400	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr1:77747200-77747400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr1:77747200-77747400	Bivalent Enhancer	Fetal Heart	heart
49	chr1:77747200-77747400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
50	chr1:77747200-77747400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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