Variant report

Variant	rs34016540
Chromosome Location	chr1:210826869-210826870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
2	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10746432	0.88[ASN][1000 genomes]
rs10779543	0.95[ASN][1000 genomes]
rs10863847	0.84[ASN][1000 genomes]
rs10863850	0.85[AMR][1000 genomes]
rs11119558	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11119559	0.85[ASN][1000 genomes]
rs11119565	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11119569	0.85[AMR][1000 genomes]
rs12097792	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1934616	0.85[AMR][1000 genomes]
rs2078225	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35795424	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3927690	0.87[ASN][1000 genomes]
rs4472816	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951497	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4951675	0.81[AFR][1000 genomes]
rs6678911	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7413508	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv522480	chr1:210779936-210848344	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
4	nsv873150	chr1:210808270-210893233	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv873151	chr1:210818347-210846888	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv873152	chr1:210820285-210854815	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210815200-210827000	Weak transcription	Pancreas	Pancrea
2	chr1:210819400-210827000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:210819400-210827200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:210819600-210827200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:210820000-210827200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:210820600-210827000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:210821000-210827200	Weak transcription	Ovary	ovary
8	chr1:210821400-210827200	Weak transcription	Right Ventricle	heart
9	chr1:210821400-210837000	Weak transcription	Left Ventricle	heart
10	chr1:210821600-210827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:210821600-210827200	Weak transcription	HSMMtube	muscle
12	chr1:210821800-210827000	Weak transcription	NHLF	lung
13	chr1:210821800-210827200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:210821800-210827200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:210821800-210827200	Weak transcription	HSMM	muscle
16	chr1:210822000-210827200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:210822600-210827200	Weak transcription	Fetal Lung	lung
18	chr1:210823200-210827000	Weak transcription	HepG2	liver
19	chr1:210823200-210827200	Weak transcription	Aorta	Aorta
20	chr1:210823200-210827200	Weak transcription	Fetal Brain Male	brain
21	chr1:210823800-210827200	Weak transcription	Brain Angular Gyrus	brain
22	chr1:210823800-210827200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:210823800-210828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:210824200-210827200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:210824200-210827200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:210824200-210827200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:210824200-210827200	Weak transcription	Brain Substantia Nigra	brain
28	chr1:210824200-210830000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:210824600-210827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:210824600-210827200	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:210825200-210827200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:210825800-210827200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:210826000-210827000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:210826000-210827000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:210826000-210827200	Weak transcription	Fetal Heart	heart
36	chr1:210826000-210827200	Weak transcription	Lung	lung
37	chr1:210826200-210827200	Weak transcription	Primary T cells from cord blood	blood
38	chr1:210826400-210827200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:210826400-210827200	Weak transcription	Esophagus	oesophagus
40	chr1:210826400-210827200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:210826800-210827200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:210826800-210827200	Weak transcription	Brain Inferior Temporal Lobe	brain

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