Variant report

Variant	rs7521423
Chromosome Location	chr1:114619059-114619060
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114609946..114612096-chr1:114617825..114619412,2	MCF-7	breast:
2	chr1:114618845..114623942-chr1:114646339..114650725,5	K562	blood:
3	chr1:114615333..114617366-chr1:114618572..114622103,3	MCF-7	breast:
4	chr1:114613845..114616518-chr1:114618546..114620521,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10858029	0.90[EUR][1000 genomes]
rs11102720	0.82[EUR][1000 genomes]
rs11102724	0.83[EUR][1000 genomes]
rs12066263	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12239127	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12749841	0.80[ASN][1000 genomes]
rs12755538	0.83[EUR][1000 genomes]
rs12759829	0.83[EUR][1000 genomes]
rs1503835	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4839352	0.82[EUR][1000 genomes]
rs4839354	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4839355	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4839358	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4839359	0.91[EUR][1000 genomes]
rs61819248	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv463284	chr1:114585590-114623867	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv547568	chr1:114585590-114623867	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv547569	chr1:114587766-114625425	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7521423	ST7L	cis	cerebellum	SCAN
rs7521423	CSDE1	cis	cerebellum	SCAN
rs7521423	C1orf103	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114616800-114620200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:114617200-114619600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:114617200-114620200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:114617200-114620200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:114617400-114619600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:114617400-114620200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:114617600-114619200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:114617600-114619200	Enhancers	GM12878-XiMat	blood
9	chr1:114617600-114619600	Enhancers	Fetal Muscle Leg	muscle
10	chr1:114617800-114619200	Enhancers	Brain Anterior Caudate	brain
11	chr1:114617800-114619600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:114618000-114623400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:114618600-114619200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:114618600-114619200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:114618600-114619400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:114618600-114621200	Enhancers	K562	blood
17	chr1:114618800-114619200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:114618800-114619200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:114618800-114619200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:114618800-114619400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:114618800-114619600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr1:114618800-114620000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:114618800-114623200	Weak transcription	Fetal Lung	lung
24	chr1:114619000-114619200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:114619000-114619200	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:114619000-114619200	Enhancers	Psoas Muscle	Psoas
27	chr1:114619000-114619200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:114619000-114620800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:114619000-114623200	Weak transcription	Brain Hippocampus Middle	brain

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