Variant report

Variant	rs73385147
Chromosome Location	chr6:27647165-27647166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27632657..27637879-chr6:27644957..27648332,5	K562	blood:
2	chr6:27634605..27637879-chr6:27644998..27648332,4	K562	blood:
3	chr6:26157578..26160001-chr6:27646646..27649152,2	MCF-7	breast:
4	chr6:27638628..27643322-chr6:27645901..27648389,5	K562	blood:
5	chr6:27644939..27650269-chr6:27651814..27657274,7	K562	blood:
6	chr6:27646424..27648439-chr6:27863200..27865949,2	K562	blood:

Variant related genes	Relation type
ENSG00000238610	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10484400	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10946943	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1157432	0.95[EUR][1000 genomes]
rs12055685	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12173985	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12174087	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12663707	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12664599	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1555021	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16867886	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867916	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16867921	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867976	0.91[EUR][1000 genomes]
rs16867983	0.91[EUR][1000 genomes]
rs1973889	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56408767	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59893892	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60096640	0.89[EUR][1000 genomes]
rs6906653	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6920044	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73385152	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73385154	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73739763	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7753236	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs878241	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9348771	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9348777	0.91[EUR][1000 genomes]
rs9348778	0.83[EUR][1000 genomes]
rs9357043	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357044	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9357048	0.91[EUR][1000 genomes]
rs9368517	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9368521	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368524	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368525	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368526	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9379995	0.84[ASN][1000 genomes]
rs9380000	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380001	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380005	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393832	0.90[ASN][1000 genomes]
rs9393835	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9393836	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9393838	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393839	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9393842	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9393843	0.88[ASN][1000 genomes]
rs9393849	0.91[EUR][1000 genomes]
rs9393852	0.95[EUR][1000 genomes]
rs9393856	0.83[EUR][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27640800-27647400	Weak transcription	GM12878-XiMat	blood
2	chr6:27646000-27649000	Weak transcription	A549	lung
3	chr6:27646600-27647200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:27646600-27647600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
5	chr6:27646600-27648600	Weak transcription	HepG2	liver
6	chr6:27646800-27647200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:27646800-27647400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
8	chr6:27646800-27647400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:27646800-27649200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr6:27646800-27649800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:27646800-27649800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:27647000-27647200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
13	chr6:27647000-27647400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr6:27647000-27647400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:27647000-27647600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:27647000-27647800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:27647000-27647800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:27647000-27648400	Bivalent Enhancer	Placenta	Placenta
19	chr6:27647000-27648800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr6:27647000-27649000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr6:27647000-27649200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:27647000-27649600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:27647000-27649800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:27647000-27649800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:27647000-27650000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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