Variant report

Variant	rs1332663
Chromosome Location	chr1:197109042-197109043
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	STAT3	chr1:197108807-197109109	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197108980..197111975-chr1:197160260..197161833,2	K562	blood:

Variant related genes	Relation type
ASPM	TF binding region
ENSG00000235748	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1034162	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10429911	0.87[CEU][hapmap]
rs10732295	0.87[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs10732296	0.87[CEU][hapmap]
rs10733087	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10737687	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10754213	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10754214	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10754215	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10754219	0.87[CEU][hapmap]
rs10801587	0.93[EUR][1000 genomes]
rs10801588	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10801590	0.93[EUR][1000 genomes]
rs10801591	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10922165	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10922166	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10922169	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1115246	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1115247	1.00[CEU][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1170880	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs1170881	1.00[CEU][hapmap]
rs12039586	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12092294	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs12677	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12731209	1.00[CEU][hapmap]
rs1332662	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1332669	0.89[EUR][1000 genomes]
rs1412631	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs1412632	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1412633	0.93[EUR][1000 genomes]
rs1412634	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1412639	0.89[EUR][1000 genomes]
rs1415217	0.87[CEU][hapmap]
rs1537319	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1556763	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs1571964	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1576878	0.89[EUR][1000 genomes]
rs1627765	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1759006	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1759007	0.93[EUR][1000 genomes]
rs1759008	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1759009	0.93[EUR][1000 genomes]
rs1759013	0.93[EUR][1000 genomes]
rs1764800	0.87[CEU][hapmap]
rs1794003	0.93[EUR][1000 genomes]
rs1794010	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1888991	0.94[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1953064	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2026429	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2151133	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2151134	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2151135	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2336595	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2336597	0.89[EUR][1000 genomes]
rs3891964	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4342879	0.87[CEU][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4350226	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs4556392	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs476390	0.87[CEU][hapmap]
rs4915148	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4915156	0.93[EUR][1000 genomes]
rs4915313	0.93[EUR][1000 genomes]
rs4915315	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4915316	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4915327	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4915337	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4915345	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915378	0.83[ASW][hapmap];1.00[GIH][hapmap];0.83[YRI][hapmap]
rs4915379	0.89[ASW][hapmap];0.87[CEU][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap]
rs5029273	0.84[YRI][hapmap]
rs510135	0.87[CEU][hapmap]
rs518149	0.87[CEU][hapmap]
rs5997	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6003	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs615647	0.87[CEU][hapmap]
rs616675	0.86[CEU][hapmap]
rs6428387	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6656448	0.85[CEU][hapmap];0.84[YRI][hapmap]
rs6656858	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6671696	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6677082	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6679189	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6680497	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6685259	0.93[EUR][1000 genomes]
rs6695300	1.00[EUR][1000 genomes]
rs6703400	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7411719	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7513826	0.87[CEU][hapmap]
rs7516700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520503	0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs7523013	0.87[CEU][hapmap]
rs7534353	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7539642	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7541429	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7542397	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7554757	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs857017	0.89[EUR][1000 genomes]
rs857020	0.86[EUR][1000 genomes]
rs857021	0.89[EUR][1000 genomes]
rs857022	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs857023	0.89[EUR][1000 genomes]
rs857026	0.89[EUR][1000 genomes]
rs857027	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs865071	0.88[EUR][1000 genomes]
rs877897	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs928439	1.00[CEU][hapmap]
rs928440	1.00[CEU][hapmap]
rs9427660	1.00[CEU][hapmap]
rs9427661	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs9427662	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs9427942	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs9726778	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
3	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
4	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
6	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:197085800-197109600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:197085800-197111000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:197090000-197110800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:197095800-197114400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:197099200-197109600	Weak transcription	HepG2	liver
12	chr1:197100400-197109600	Weak transcription	NHLF	lung
13	chr1:197100400-197112800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:197100400-197113600	Weak transcription	HSMM	muscle
15	chr1:197100600-197111200	Weak transcription	NH-A	brain
16	chr1:197100600-197113000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:197100800-197114200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:197101000-197109200	Weak transcription	Osteobl	bone
19	chr1:197101000-197109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:197101000-197110800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:197101200-197109200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:197101200-197109600	Weak transcription	NHEK	skin
23	chr1:197101200-197113000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:197102600-197113800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:197103000-197109200	Weak transcription	Fetal Lung	lung
26	chr1:197104600-197113600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:197105200-197109200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:197105400-197113600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:197106200-197112600	Strong transcription	Fetal Thymus	thymus
30	chr1:197106200-197113000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:197106400-197113400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:197106600-197109200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:197106600-197109600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:197106600-197109800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:197106600-197109800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:197106600-197113000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:197106800-197113000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:197107000-197109600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:197107200-197109200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:197107400-197109400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:197107400-197109600	Genic enhancers	Dnd41	blood
42	chr1:197107400-197110000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:197107600-197109800	Strong transcription	K562	blood
44	chr1:197107800-197113600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:197107800-197113800	Weak transcription	Fetal Intestine Small	intestine
46	chr1:197108000-197109200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:197108000-197110000	Genic enhancers	HUVEC	blood vessel
48	chr1:197108000-197110800	Weak transcription	Thymus	Thymus
49	chr1:197108000-197112400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:197108000-197113800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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