Variant report

Variant	rs12126287
Chromosome Location	chr1:210709391-210709392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10779535	0.87[EUR][1000 genomes]
rs10779536	0.87[EUR][1000 genomes]
rs10779537	0.87[EUR][1000 genomes]
rs11119530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119537	0.87[EUR][1000 genomes]
rs11583167	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584633	1.00[ASN][1000 genomes]
rs11585911	1.00[ASN][1000 genomes]
rs12033957	0.87[EUR][1000 genomes]
rs12121595	0.87[EUR][1000 genomes]
rs12121717	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122405	0.87[EUR][1000 genomes]
rs12122988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125970	0.87[EUR][1000 genomes]
rs12126012	0.87[EUR][1000 genomes]
rs12127018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127170	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129347	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129382	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132714	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12136151	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1343876	1.00[ASN][1000 genomes]
rs17188337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17260515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17260522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17260529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892471	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892472	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4540660	0.83[EUR][1000 genomes]
rs4845044	0.83[EUR][1000 genomes]
rs4845045	0.84[EUR][1000 genomes]
rs56727567	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58599805	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59289142	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59525134	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60629769	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828096	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828129	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828131	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828132	1.00[ASN][1000 genomes]
rs6659137	1.00[ASN][1000 genomes]
rs6680553	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685262	1.00[ASN][1000 genomes]
rs72749373	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551813	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv549106	chr1:210698719-210736508	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1011702	chr1:210706323-210739030	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv988198	chr1:210707300-210716552	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210680600-210731000	Weak transcription	HSMM	muscle
3	chr1:210704000-210709400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:210708200-210710200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:210708200-210711000	Enhancers	HSMMtube	muscle
6	chr1:210708400-210710000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:210708400-210710000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:210708400-210710000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:210708400-210710200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:210708400-210710400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:210708600-210710000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:210708600-210710200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:210708600-210710200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:210708600-210710400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:210708600-210710400	Enhancers	Fetal Brain Male	brain
16	chr1:210708800-210709400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:210708800-210709800	Enhancers	Brain Germinal Matrix	brain
18	chr1:210708800-210710200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:210708800-210710400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:210708800-210710400	Enhancers	Fetal Muscle Leg	muscle
21	chr1:210708800-210710600	Enhancers	Fetal Heart	heart
22	chr1:210709000-210710000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:210709000-210710000	Enhancers	Fetal Brain Female	brain
24	chr1:210709000-210710200	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:210709000-210710400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:210709200-210709800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:210709200-210710200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:210709200-210710400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:210709200-210710600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:210709200-210710800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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