Variant report

Variant	rs6718181
Chromosome Location	chr2:179231067-179231068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179230542..179233309-chr2:179237367..179239731,2	K562	blood:
2	chr2:179213210..179214878-chr2:179229639..179231620,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16866229	1.00[AMR][1000 genomes]
rs16866299	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6715337	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6719229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6745611	1.00[AMR][1000 genomes]
rs6748202	1.00[YRI][hapmap]
rs72646840	1.00[AMR][1000 genomes]
rs7566327	1.00[YRI][hapmap]
rs7566971	1.00[AMR][1000 genomes]
rs7567654	1.00[AFR][1000 genomes]
rs7580575	1.00[YRI][hapmap];0.85[AFR][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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
2	chr2:179199000-179241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:179199600-179240400	Weak transcription	Fetal Stomach	stomach
4	chr2:179201800-179240000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:179201800-179240400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:179201800-179240400	Weak transcription	HSMMtube	muscle
7	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:179201800-179268200	Weak transcription	HSMM	muscle
9	chr2:179202400-179248000	Weak transcription	NH-A	brain
10	chr2:179209200-179253000	Weak transcription	Esophagus	oesophagus
11	chr2:179210800-179257200	Weak transcription	Pancreas	Pancrea
12	chr2:179215200-179248800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:179215600-179239800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:179217400-179240400	Weak transcription	Aorta	Aorta
15	chr2:179217400-179248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:179217600-179239600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:179217600-179241800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:179217800-179239000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:179218200-179240000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:179219000-179248000	Weak transcription	Left Ventricle	heart
21	chr2:179224800-179239800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:179225000-179257800	Weak transcription	Lung	lung
23	chr2:179225800-179233000	Weak transcription	Ovary	ovary
24	chr2:179226600-179257200	Weak transcription	Gastric	stomach
25	chr2:179227000-179240600	Weak transcription	Brain Angular Gyrus	brain
26	chr2:179227600-179239600	Weak transcription	Liver	Liver
27	chr2:179228400-179238600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:179228400-179239600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:179228600-179239200	Weak transcription	NHEK	skin
30	chr2:179228800-179232400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:179228800-179247200	Weak transcription	HMEC	breast
32	chr2:179229600-179240800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:179230600-179233000	Enhancers	Fetal Brain Male	brain

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