Variant report

Variant	rs2969612
Chromosome Location	chr4:127646765-127646766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127646443..127648760-chr4:127651080..127655752,5	K562	blood:
2	chr4:127645596..127648097-chr4:127648358..127650119,2	K562	blood:
3	chr4:127645103..127647916-chr4:127657804..127660806,3	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10518503	1.00[ASN][1000 genomes]
rs1167191	1.00[ASN][1000 genomes]
rs1167193	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11736466	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508795	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508922	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648553	1.00[ASN][1000 genomes]
rs1393992	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503607	1.00[ASN][1000 genomes]
rs1503629	1.00[ASN][1000 genomes]
rs1511136	1.00[ASN][1000 genomes]
rs17197343	1.00[ASN][1000 genomes]
rs17198369	1.00[ASN][1000 genomes]
rs17202524	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17204565	1.00[ASN][1000 genomes]
rs17205524	1.00[ASN][1000 genomes]
rs17257496	1.00[ASN][1000 genomes]
rs17258200	1.00[ASN][1000 genomes]
rs17259504	1.00[ASN][1000 genomes]
rs17262874	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17265230	1.00[ASN][1000 genomes]
rs1910440	1.00[ASN][1000 genomes]
rs192855	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2174182	1.00[ASN][1000 genomes]
rs220087	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202278	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2221359	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391098	1.00[ASN][1000 genomes]
rs2637572	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2637574	1.00[ASN][1000 genomes]
rs313068	0.91[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313073	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313074	1.00[ASN][1000 genomes]
rs313078	1.00[ASN][1000 genomes]
rs313079	1.00[ASN][1000 genomes]
rs313080	1.00[ASN][1000 genomes]
rs313093	1.00[ASN][1000 genomes]
rs313110	0.80[EUR][1000 genomes]
rs313111	0.82[EUR][1000 genomes]
rs313112	0.82[EUR][1000 genomes]
rs313113	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313114	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313116	0.84[EUR][1000 genomes]
rs313117	1.00[ASN][1000 genomes]
rs313122	1.00[ASN][1000 genomes]
rs313125	1.00[ASN][1000 genomes]
rs313128	1.00[ASN][1000 genomes]
rs35780812	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386871	1.00[ASN][1000 genomes]
rs411063	1.00[ASN][1000 genomes]
rs433919	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429742	1.00[ASN][1000 genomes]
rs443349	1.00[ASN][1000 genomes]
rs450760	1.00[ASN][1000 genomes]
rs4834138	1.00[ASN][1000 genomes]
rs5004420	0.89[EUR][1000 genomes]
rs6534580	1.00[ASN][1000 genomes]
rs6818047	1.00[ASN][1000 genomes]
rs6821115	1.00[ASN][1000 genomes]
rs6830681	1.00[ASN][1000 genomes]
rs7655747	1.00[ASN][1000 genomes]
rs7672599	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675809	1.00[ASN][1000 genomes]
rs7682805	1.00[ASN][1000 genomes]
rs7697724	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs951783	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2752024	chr4:127584697-127671942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv595386	chr4:127597069-127668828	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1028609	chr4:127597319-127664629	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv879907	chr4:127646765-127709859	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv879908	chr4:127646765-127749390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2969612	INTU	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127637200-127647200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:127639600-127647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:127646000-127649200	Genic enhancers	K562	blood
4	chr4:127646600-127647000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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