Variant report

Variant	rs386871
Chromosome Location	chr4:127580432-127580433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127580213..127582009-chr4:127585338..127587465,3	K562	blood:
2	chr4:127568487..127570733-chr4:127580195..127582712,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10518503	1.00[ASN][1000 genomes]
rs1167191	1.00[ASN][1000 genomes]
rs1167193	1.00[ASN][1000 genomes]
rs11736466	1.00[ASN][1000 genomes]
rs12508795	1.00[ASN][1000 genomes]
rs12508922	1.00[ASN][1000 genomes]
rs12648553	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393992	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	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	1.00[ASN][1000 genomes]
rs17265230	1.00[ASN][1000 genomes]
rs1910440	1.00[ASN][1000 genomes]
rs192855	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2174182	1.00[ASN][1000 genomes]
rs220087	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202278	1.00[ASN][1000 genomes]
rs2221359	1.00[ASN][1000 genomes]
rs2391098	1.00[ASN][1000 genomes]
rs2637572	1.00[ASN][1000 genomes]
rs2637574	1.00[ASN][1000 genomes]
rs28380371	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2969612	1.00[ASN][1000 genomes]
rs3114039	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs313057	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs313068	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313073	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313074	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313078	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313079	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313080	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313083	0.98[AMR][1000 genomes]
rs313085	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs313093	1.00[ASN][1000 genomes]
rs313113	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313114	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313117	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313122	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313123	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs313125	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313128	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35780812	1.00[ASN][1000 genomes]
rs411063	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs433919	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4429742	1.00[ASN][1000 genomes]
rs443349	1.00[ASN][1000 genomes]
rs450760	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834138	1.00[ASN][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	1.00[ASN][1000 genomes]
rs7675809	1.00[ASN][1000 genomes]
rs7682805	1.00[ASN][1000 genomes]
rs7697724	1.00[CEU][hapmap];0.89[TSI][hapmap]
rs951783	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs386871	INTU	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127574600-127582400	Weak transcription	K562	blood
2	chr4:127578400-127581000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:127579800-127583200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:127580200-127582400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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