Variant report

Variant	rs11994500
Chromosome Location	chr8:107060782-107060783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107054893..107058550-chr8:107060735..107063239,3	K562	blood:
2	chr8:107044060..107046114-chr8:107059954..107062848,2	K562	blood:
3	chr8:107059219..107060866-chr8:107093801..107095788,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11985881	1.00[EUR][1000 genomes]
rs11996443	1.00[EUR][1000 genomes]
rs11998719	0.93[AFR][1000 genomes]
rs16874230	1.00[EUR][1000 genomes]
rs16874259	1.00[EUR][1000 genomes]
rs55873238	0.89[AFR][1000 genomes]
rs57346414	0.98[AFR][1000 genomes]
rs57848428	0.82[AFR][1000 genomes]
rs58458066	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59525290	0.84[AFR][1000 genomes]
rs60761894	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60814999	0.82[AFR][1000 genomes]
rs61187847	1.00[EUR][1000 genomes]
rs61669783	1.00[EUR][1000 genomes]
rs6469025	0.89[AFR][1000 genomes]
rs6983507	0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6988902	1.00[EUR][1000 genomes]
rs7003695	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7009606	0.84[AFR][1000 genomes]
rs73293483	0.83[AFR][1000 genomes]
rs73295323	0.89[AFR][1000 genomes]
rs73295379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295402	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73297406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73297408	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73297411	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73297420	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73297443	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73297450	1.00[EUR][1000 genomes]
rs73700537	0.84[AFR][1000 genomes]
rs7814668	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7814901	1.00[EUR][1000 genomes]
rs7821927	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7829062	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7837743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv611840	chr8:106913294-107265915	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv611841	chr8:107048059-107090500	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107052200-107069200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107056400-107060800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:107057200-107060800	Enhancers	NHDF-Ad	bronchial
4	chr8:107057200-107060800	Enhancers	Osteobl	bone
5	chr8:107058000-107060800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:107058600-107067400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:107059200-107072000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:107059800-107060800	Enhancers	NH-A	brain
9	chr8:107060000-107064000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:107060000-107067200	Weak transcription	Hela-S3	cervix
11	chr8:107060000-107067400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:107060200-107063400	Weak transcription	HUVEC	blood vessel
13	chr8:107060400-107067000	Weak transcription	NHLF	lung
14	chr8:107060400-107067400	Weak transcription	Fetal Kidney	kidney
15	chr8:107060600-107067000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:107060600-107067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:107060600-107070800	Weak transcription	A549	lung

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