Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:140250688..140253465-chr6:140258352..140260834,2	K562	blood:
2	chr6:140259101..140260613-chr6:140392985..140394569,2	K562	blood:
3	chr6:140247524..140250315-chr6:140258612..140260750,2	K562	blood:
4	chr6:140259128..140260901-chr6:140296853..140299455,2	MCF-7	breast:
5	chr6:140257717..140262130-chr6:140263178..140266087,5	K562	blood:
6	chr6:140147200..140149310-chr6:140258433..140260854,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1028471	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12523886	0.86[ASN][1000 genomes]
rs12528420	0.86[ASN][1000 genomes]
rs12529701	0.85[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12529920	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1338692	0.82[CHB][hapmap]
rs1572674	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17069706	0.86[ASN][1000 genomes]
rs17069710	0.86[ASN][1000 genomes]
rs17069727	0.86[ASN][1000 genomes]
rs36026965	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62429482	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62429486	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62429513	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62429521	0.89[ASN][1000 genomes]
rs62429525	0.83[EUR][1000 genomes]
rs73571530	0.86[ASN][1000 genomes]
rs7770431	0.86[ASN][1000 genomes]
rs9484331	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484332	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140255000-140262200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:140259200-140262800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:140259200-140263000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:140259200-140265600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:140259400-140261800	Weak transcription	K562	blood
6	chr6:140259800-140262600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:140260000-140261200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:140260000-140262600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:140260200-140261000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:140260200-140261000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:140260200-140261200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:140260400-140260600	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:140260400-140260600	Enhancers	Primary hematopoietic stem cells	blood
14	chr6:140260400-140261000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:140260400-140261000	Enhancers	Fetal Brain Female	brain

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