Variant report

Variant	rs1449788
Chromosome Location	chr8:100768514-100768515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100768042..100769569-chr8:100772552..100774739,2	K562	blood:
2	chr8:100764274..100767789-chr8:100767882..100771412,3	K562	blood:
3	chr8:100761966..100763806-chr8:100767547..100770055,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1487020	1.00[AFR][1000 genomes]
rs3105175	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100710200-100785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:100725600-100779800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:100727000-100779000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:100734200-100779200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:100734600-100796600	Weak transcription	Pancreas	Pancrea
6	chr8:100737800-100779000	Weak transcription	Left Ventricle	heart
7	chr8:100752000-100769600	Weak transcription	Fetal Stomach	stomach
8	chr8:100761800-100787200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:100763600-100796600	Weak transcription	HSMMtube	muscle
10	chr8:100763800-100768600	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:100764200-100779200	Weak transcription	Primary B cells from cord blood	blood
12	chr8:100765200-100769600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:100766000-100779800	Weak transcription	Lung	lung
14	chr8:100766200-100798000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:100766200-100815600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:100766800-100783000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:100767000-100779000	Weak transcription	Primary T cells from cord blood	blood
18	chr8:100767200-100769800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:100767400-100770000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:100767600-100769400	Weak transcription	Aorta	Aorta
21	chr8:100767600-100769400	Weak transcription	Fetal Kidney	kidney
22	chr8:100767600-100779800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:100767600-100779800	Weak transcription	Thymus	Thymus
24	chr8:100767600-100782800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:100767600-100787200	Weak transcription	Fetal Thymus	thymus
26	chr8:100768400-100768800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr8:100768400-100769000	ZNF genes & repeats	Osteobl	bone

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