Variant report

Variant	rs6999246
Chromosome Location	chr8:104151149-104151150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr8:104150968-104151194	GM12878	blood:	n/a	n/a
2	RUNX3	chr8:104150903-104151347	GM12878	blood:	n/a	n/a
3	BHLHE40	chr8:104150942-104151246	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104124504..104127202-chr8:104148558..104151181,2	K562	blood:
2	chr8:104149297..104151496-chr8:104160491..104162824,2	MCF-7	breast:
3	chr8:104149065..104151675-chr8:104155454..104157651,2	MCF-7	breast:

Variant related genes	Relation type
BAALC	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs62527607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104146800-104152000	Weak transcription	Fetal Brain Male	brain
2	chr8:104146800-104152600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:104148400-104152200	Enhancers	Brain Hippocampus Middle	brain
4	chr8:104149000-104151200	Enhancers	Primary hematopoietic stem cells	blood
5	chr8:104149000-104151400	Enhancers	Brain Cingulate Gyrus	brain
6	chr8:104149000-104153200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:104149200-104151800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:104149200-104151800	Enhancers	Brain Substantia Nigra	brain
9	chr8:104149600-104152200	Enhancers	Brain Angular Gyrus	brain
10	chr8:104150000-104152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:104150200-104151200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:104150200-104152200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104150200-104152400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:104150200-104152600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:104150400-104151400	Enhancers	Spleen	Spleen
16	chr8:104150400-104151600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:104150400-104152200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:104150600-104151600	Enhancers	Lung	lung
19	chr8:104150600-104152800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr8:104150600-104152800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:104150800-104151200	Enhancers	Brain Anterior Caudate	brain
22	chr8:104150800-104151200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:104150800-104151400	Weak transcription	Right Atrium	heart
24	chr8:104150800-104152200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:104150800-104152200	Weak transcription	Pancreas	Pancrea
26	chr8:104150800-104152200	Weak transcription	Right Ventricle	heart
27	chr8:104150800-104153000	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:104151000-104151400	Flanking Active TSS	GM12878-XiMat	blood
29	chr8:104151000-104151600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr8:104151000-104152200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:104151000-104152600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:104151000-104152600	Weak transcription	Ovary	ovary

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