Variant report

Variant	rs11585561
Chromosome Location	chr1:114621638-114621639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114202310..114204666-chr1:114619854..114621847,2	K562	blood:
2	chr1:114620515..114623507-chr1:114624325..114627250,3	K562	blood:
3	chr1:114621614..114625641-chr1:114627637..114630642,5	MCF-7	breast:
4	chr1:114619893..114621772-chr1:114628579..114631100,2	K562	blood:
5	chr1:114621187..114625954-chr1:114630932..114635442,7	MCF-7	breast:
6	chr1:114618845..114623942-chr1:114646339..114650725,5	K562	blood:
7	chr1:114585196..114589086-chr1:114619214..114622779,3	MCF-7	breast:
8	chr1:114615333..114617366-chr1:114618572..114622103,3	MCF-7	breast:
9	chr1:114616664..114618910-chr1:114620600..114622637,2	K562	blood:
10	chr1:114621189..114624161-chr1:114624603..114627561,2	MCF-7	breast:

No data

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

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

rs_ID	r²[population]
rs10858027	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11102725	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11102726	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11585525	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123649	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12125801	0.99[EUR][1000 genomes]
rs12239127	0.85[JPT][hapmap]
rs1532772	0.80[EUR][1000 genomes]
rs1847389	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2938348	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4240538	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4839003	1.00[MEX][hapmap]
rs496267	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6687019	0.95[EUR][1000 genomes]
rs6690072	0.98[EUR][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
rs11585561	WDR77	cis	cerebellum	SCAN
rs11585561	OLFML3	cis	parietal	SCAN
rs11585561	NGF	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114618000-114623400	Weak transcription	Brain Substantia Nigra	brain
2	chr1:114618800-114623200	Weak transcription	Fetal Lung	lung
3	chr1:114619000-114623200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:114619200-114623400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:114619200-114640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:114619400-114623600	Weak transcription	Right Atrium	heart
7	chr1:114619600-114621800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:114619600-114621800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:114619600-114622000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:114620200-114621800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:114620200-114621800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:114620200-114621800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:114621200-114622400	Enhancers	Psoas Muscle	Psoas
14	chr1:114621200-114624800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:114621400-114621800	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:114621400-114622400	Enhancers	Fetal Muscle Leg	muscle
17	chr1:114621400-114622600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:114621400-114622600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:114621400-114622800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:114621400-114623400	Enhancers	K562	blood
21	chr1:114621400-114623800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:114621400-114623800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:114621600-114622800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:114621600-114623400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:114621600-114624000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:114621600-114625600	Enhancers	HUES48 Cell Line	embryonic stem cell

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