Variant report

Variant	rs3738370
Chromosome Location	chr1:224008913-224008914
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	JUN	chr1:224007305-224009102	K562	blood:	n/a	chr1:224008155-224008167

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224008280..224010029-chr1:224031930..224034078,2	MCF-7	breast:
2	chr1:224000840..224004910-chr1:224006824..224010402,6	K562	blood:

Variant related genes	Relation type
TP53BP2	TF binding region
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1003061	0.91[ASN][1000 genomes]
rs1153927	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1153929	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1153930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1153933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1153934	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1153936	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1153937	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1153938	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1153943	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1153947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153949	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1153973	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1222120	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1222121	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1222124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1222128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1222146	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1222156	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1621129	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1629850	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[GIH][hapmap];0.80[EUR][1000 genomes]
rs16842270	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16842294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16842321	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs1981171	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1982610	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1982612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1982613	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28370163	0.85[EUR][1000 genomes]
rs28370164	0.85[EUR][1000 genomes]
rs28370167	0.85[EUR][1000 genomes]
rs28370172	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3767709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653457	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56329085	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56918361	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59104475	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59196624	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60131749	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60164080	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60739082	0.90[ASN][1000 genomes]
rs6604726	0.88[ASN][1000 genomes]
rs6661816	0.92[ASN][1000 genomes]
rs6675712	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6687003	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6694214	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6694471	0.82[ASN][1000 genomes]
rs72749554	0.86[EUR][1000 genomes]
rs72749569	0.90[EUR][1000 genomes]
rs72749588	0.94[ASN][1000 genomes]
rs737066	0.85[CEU][hapmap];0.81[CHB][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]
rs750873	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7536779	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898878	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223988200-224012000	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:223991200-224010800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:223995800-224009400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:223999800-224010800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:224001000-224010000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:224001800-224010600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:224001800-224010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:224002000-224015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:224002000-224023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:224002200-224013000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:224002200-224020200	Weak transcription	Placenta	Placenta
13	chr1:224002200-224020200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:224002400-224010800	Weak transcription	Small Intestine	intestine
15	chr1:224002400-224013600	Weak transcription	Esophagus	oesophagus
16	chr1:224003200-224009200	Strong transcription	Fetal Thymus	thymus
17	chr1:224003400-224013200	Weak transcription	HepG2	liver
18	chr1:224003800-224013600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:224003800-224014800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:224004000-224010800	Weak transcription	Stomach Mucosa	stomach
21	chr1:224004000-224012000	Weak transcription	Right Ventricle	heart
22	chr1:224004200-224014800	Weak transcription	HMEC	breast
23	chr1:224004400-224009800	Weak transcription	Fetal Heart	heart
24	chr1:224004800-224010800	Weak transcription	Gastric	stomach
25	chr1:224005200-224009400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:224005400-224009200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:224005400-224009400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:224005600-224009000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:224005600-224009400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:224005600-224009400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:224005800-224009000	Strong transcription	Fetal Intestine Large	intestine
32	chr1:224005800-224009400	Strong transcription	Fetal Stomach	stomach
33	chr1:224006000-224009000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:224006600-224009400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr1:224006600-224009400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:224006800-224009000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:224006800-224009000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:224006800-224009000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:224006800-224009200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:224006800-224009200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:224006800-224009200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:224006800-224009200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:224006800-224009200	Strong transcription	NHEK	skin
44	chr1:224007000-224009000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:224007000-224009000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:224007000-224009200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:224007000-224009200	Strong transcription	Dnd41	blood
48	chr1:224007000-224009400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:224007000-224009600	Strong transcription	Primary T cells from cord blood	blood
50	chr1:224007000-224024000	Weak transcription	Fetal Intestine Small	intestine

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