Variant report

Variant	rs6681916
Chromosome Location	chr1:95694190-95694191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95688412..95691193-chr1:95692798..95694995,2	K562	blood:
2	chr1:95689693..95691415-chr1:95693495..95695480,2	K562	blood:
3	chr1:95692200..95694828-chr1:95697086..95699091,2	K562	blood:
4	chr1:95691402..95696968-chr1:95697086..95702119,8	K562	blood:

Variant related genes	Relation type
ENSG00000122481	Chromatin interaction
ENSG00000226026	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10783000	1.00[EUR][1000 genomes]
rs56785527	1.00[EUR][1000 genomes]
rs6682111	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6691935	1.00[EUR][1000 genomes]
rs6692516	1.00[EUR][1000 genomes]
rs6695953	1.00[EUR][1000 genomes]
rs72964574	1.00[EUR][1000 genomes]
rs72964575	1.00[EUR][1000 genomes]
rs7543891	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95670600-95698200	Weak transcription	Aorta	Aorta
2	chr1:95682600-95698000	Weak transcription	Fetal Intestine Large	intestine
3	chr1:95684400-95694600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:95687600-95695600	Weak transcription	Liver	Liver
5	chr1:95688800-95698800	Weak transcription	Psoas Muscle	Psoas
6	chr1:95689200-95698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:95689400-95698200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:95692400-95698200	Weak transcription	A549	lung
9	chr1:95692600-95695000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:95692600-95696800	Enhancers	Brain Angular Gyrus	brain
11	chr1:95693000-95698200	Weak transcription	Fetal Heart	heart
12	chr1:95693200-95694200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:95693200-95694400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:95693200-95698000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:95693200-95698200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:95693400-95698200	Weak transcription	Adipose Nuclei	Adipose
17	chr1:95693400-95698400	Weak transcription	HMEC	breast
18	chr1:95693600-95695000	Enhancers	Left Ventricle	heart
19	chr1:95693600-95696800	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:95693600-95697000	Enhancers	Brain Substantia Nigra	brain
21	chr1:95693600-95699000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:95693800-95695000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:95693800-95695200	Enhancers	Brain Anterior Caudate	brain
24	chr1:95693800-95696400	Enhancers	Brain Hippocampus Middle	brain
25	chr1:95693800-95696600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:95694000-95694400	Weak transcription	Pancreas	Pancrea
27	chr1:95694000-95695600	Weak transcription	HepG2	liver
28	chr1:95694000-95698400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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