Variant report

Variant	rs1221645
Chromosome Location	chr6:147487584-147487585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147486603..147490709-chr6:147522349..147526252,7	K562	blood:
2	chr6:147477631..147490692-chr6:147521132..147530003,24	K562	blood:
3	chr6:147487237..147491154-chr6:147494860..147497509,4	K562	blood:
4	chr6:147486719..147489224-chr6:147498505..147500216,2	K562	blood:
5	chr6:147487150..147489403-chr6:147490355..147493952,4	K562	blood:
6	chr6:147485019..147487788-chr6:147631094..147633073,2	K562	blood:

Variant related genes	Relation type
ENSG00000233452	Chromatin interaction
ENSG00000164506	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1031012	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1031013	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1660690	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2582928	0.96[CEU][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs2786181	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2818866	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2818867	0.84[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs559038	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs594981	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs631474	0.84[GIH][hapmap]
rs631931	0.84[ASN][1000 genomes]
rs649544	1.00[CEU][hapmap];0.84[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs652831	0.91[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs693573	0.85[ASN][1000 genomes]
rs694625	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[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	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886751	chr6:147354092-147490398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147478400-147487600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:147478400-147487600	Weak transcription	HMEC	breast
3	chr6:147478400-147487600	Weak transcription	NHLF	lung
4	chr6:147483000-147491000	Weak transcription	NH-A	brain
5	chr6:147483400-147487600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:147483800-147487600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:147483800-147487600	Weak transcription	Osteobl	bone
8	chr6:147483800-147487800	Weak transcription	NHEK	skin
9	chr6:147484200-147487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:147485400-147488800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:147486000-147491200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:147486600-147488400	Enhancers	HUVEC	blood vessel
13	chr6:147486800-147487600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:147486800-147487800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:147486800-147488000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:147486800-147488000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:147486800-147488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:147486800-147489000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:147486800-147492600	Enhancers	NHDF-Ad	bronchial
20	chr6:147487200-147493000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:147487400-147487800	Enhancers	K562	blood
22	chr6:147487400-147488000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:147487400-147488000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:147487400-147488600	Enhancers	HSMM	muscle

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