Variant report

Variant	rs10484523
Chromosome Location	chr6:167149823-167149824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167146144..167148491-chr6:167149549..167152414,3	K562	blood:
2	chr6:167146144..167148491-chr6:167149549..167153230,4	K562	blood:
3	chr6:167041071..167042766-chr6:167149110..167150856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071242	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4448067	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4487559	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4515359	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4612141	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55714481	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55747901	0.95[EUR][1000 genomes]
rs55928091	0.87[ASN][1000 genomes]
rs56008213	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56238185	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56241737	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56410210	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv482478	chr6:167071366-167265821	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv15643	chr6:167149339-167150785	Enhancers Weak transcription	Chromatin interactive region	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	chr6:167136600-167157600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:167142800-167153000	Weak transcription	Lung	lung
3	chr6:167142800-167156600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:167143000-167150400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:167143200-167152800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:167146400-167151800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:167147600-167153200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:167147800-167150600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:167147800-167153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:167149400-167153000	Weak transcription	Gastric	stomach
11	chr6:167149600-167151200	Enhancers	HUVEC	blood vessel
12	chr6:167149600-167153400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:167149600-167153800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:167149600-167154000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:167149800-167150000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr6:167149800-167150400	Enhancers	HSMMtube	muscle
17	chr6:167149800-167150600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:167149800-167151000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:167149800-167151200	Enhancers	HSMM	muscle
20	chr6:167149800-167151200	Enhancers	NH-A	brain
21	chr6:167149800-167151400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:167149800-167152200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:167149800-167152200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:167149800-167152600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:167149800-167153800	Enhancers	NHEK	skin
26	chr6:167149800-167155400	Enhancers	Fetal Stomach	stomach

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