Variant report

Variant	rs2068433
Chromosome Location	chr6:147491324-147491325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147487150..147489403-chr6:147490355..147493952,4	K562	blood:
2	chr6:147491046..147492710-chr6:147495269..147498001,2	K562	blood:
3	chr6:147491112..147492625-chr6:147503704..147505432,2	K562	blood:
4	chr6:147482480..147485033-chr6:147490242..147491745,2	MCF-7	breast:
5	chr6:147489304..147492300-chr6:147501253..147503085,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17174965	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17836098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73011833	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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	chr6:147486800-147492600	Enhancers	NHDF-Ad	bronchial
2	chr6:147487200-147493000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:147488800-147491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:147488800-147495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:147489000-147491800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:147489000-147492600	Weak transcription	K562	blood
7	chr6:147489000-147494200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:147489400-147493000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:147489600-147494600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:147490400-147492400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:147490400-147492400	Enhancers	Osteobl	bone
12	chr6:147490600-147492800	Enhancers	HSMM	muscle
13	chr6:147490800-147491400	Enhancers	NHEK	skin
14	chr6:147490800-147492200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:147490800-147492400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:147490800-147492400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:147490800-147492400	Enhancers	HMEC	breast
18	chr6:147490800-147492800	Enhancers	HSMMtube	muscle
19	chr6:147490800-147492800	Enhancers	NHLF	lung
20	chr6:147491000-147491400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:147491000-147491600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:147491000-147492400	Enhancers	NH-A	brain
23	chr6:147491200-147491800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:147491200-147493600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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