Variant report

Variant	rs6540617
Chromosome Location	chr1:210823634-210823635
allele	G/T
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:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10863848	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119560	0.97[ASN][1000 genomes]
rs12024118	0.82[JPT][hapmap]
rs12040372	0.82[JPT][hapmap];1.00[TSI][hapmap]
rs12046941	1.00[MEX][hapmap]
rs12402386	0.93[ASN][1000 genomes]
rs4951413	0.82[JPT][hapmap]
rs4951709	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6662350	1.00[TSI][hapmap]
rs6665545	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs6683486	0.83[ASW][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs6686046	0.82[JPT][hapmap]
rs9429840	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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:30 , 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	chr1:210819800-210823800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:210820000-210827200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:210820600-210827000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:210821000-210827200	Weak transcription	Ovary	ovary
9	chr1:210821400-210827200	Weak transcription	Right Ventricle	heart
10	chr1:210821400-210837000	Weak transcription	Left Ventricle	heart
11	chr1:210821600-210827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:210821600-210827200	Weak transcription	HSMMtube	muscle
13	chr1:210821800-210827000	Weak transcription	NHLF	lung
14	chr1:210821800-210827200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:210821800-210827200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:210821800-210827200	Weak transcription	HSMM	muscle
17	chr1:210822000-210827200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:210822600-210824200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:210822600-210827200	Weak transcription	Fetal Lung	lung
20	chr1:210822800-210824200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:210823200-210827000	Weak transcription	HepG2	liver
22	chr1:210823200-210827200	Weak transcription	Aorta	Aorta
23	chr1:210823200-210827200	Weak transcription	Fetal Brain Male	brain
24	chr1:210823400-210825800	Weak transcription	Lung	lung
25	chr1:210823600-210823800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:210823600-210823800	Enhancers	Brain Angular Gyrus	brain
27	chr1:210823600-210823800	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:210823600-210824200	Enhancers	Brain Substantia Nigra	brain
29	chr1:210823600-210824200	Enhancers	Fetal Stomach	stomach
30	chr1:210823600-210824600	Enhancers	Fetal Muscle Leg	muscle

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