Variant report

Variant	rs12123649
Chromosome Location	chr1:114621226-114621227
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr1:114619893..114621772-chr1:114628579..114631100,2	K562	blood:
4	chr1:114621187..114625954-chr1:114630932..114635442,7	MCF-7	breast:
5	chr1:114618845..114623942-chr1:114646339..114650725,5	K562	blood:
6	chr1:114585196..114589086-chr1:114619214..114622779,3	MCF-7	breast:
7	chr1:114615333..114617366-chr1:114618572..114622103,3	MCF-7	breast:
8	chr1:114616664..114618910-chr1:114620600..114622637,2	K562	blood:
9	chr1:114621189..114624161-chr1:114624603..114627561,2	MCF-7	breast:

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10858027	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11102725	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11102726	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11585525	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11585561	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12125801	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1532772	0.80[EUR][1000 genomes]
rs1847389	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2938348	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4240538	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs496267	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6687019	0.95[EUR][1000 genomes];0.81[ASN][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

No data

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	chr1:114619400-114621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:114619400-114623600	Weak transcription	Right Atrium	heart
8	chr1:114619600-114621400	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:114619600-114621800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:114619600-114621800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:114619600-114622000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:114620200-114621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:114620200-114621600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:114620200-114621600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:114620200-114621800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:114620200-114621800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:114620200-114621800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:114620800-114621400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:114620800-114621400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:114620800-114621600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:114621000-114621600	Enhancers	GM12878-XiMat	blood
22	chr1:114621200-114621400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:114621200-114621400	Flanking Active TSS	K562	blood
24	chr1:114621200-114621600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:114621200-114622400	Enhancers	Psoas Muscle	Psoas
26	chr1:114621200-114624800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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