Variant report

Variant	rs6984393
Chromosome Location	chr8:107070261-107070262
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	chr8:107055539..107058466-chr8:107069487..107071012,2	K562	blood:
2	chr8:107069077..107070630-chr8:107070667..107072859,2	K562	blood:

Variant related genes	Relation type
ENSG00000251003	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10086055	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10092927	0.86[ASN][1000 genomes]
rs1032545	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10505091	0.86[ASN][1000 genomes]
rs10808408	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10955407	0.92[ASN][1000 genomes]
rs10955408	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955409	0.92[ASN][1000 genomes]
rs10955412	0.83[EUR][1000 genomes]
rs11781234	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11781331	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11782609	0.86[ASN][1000 genomes]
rs11786829	0.92[ASN][1000 genomes]
rs12542361	0.87[ASN][1000 genomes]
rs12546875	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12674846	0.88[ASN][1000 genomes]
rs12675478	0.82[ASN][1000 genomes]
rs12677927	0.91[ASN][1000 genomes]
rs12680670	0.88[ASN][1000 genomes]
rs12681183	0.88[ASN][1000 genomes]
rs13439705	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1353450	0.92[ASN][1000 genomes]
rs1429681	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1496180	0.86[ASN][1000 genomes]
rs1496181	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1496182	0.92[ASN][1000 genomes]
rs1496183	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1603357	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1603363	0.92[ASN][1000 genomes]
rs16873989	0.86[ASN][1000 genomes]
rs1817939	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1835267	0.92[ASN][1000 genomes]
rs1835268	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2029878	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2029879	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2029880	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2029881	0.87[ASN][1000 genomes]
rs2029882	0.92[ASN][1000 genomes]
rs2059943	0.92[ASN][1000 genomes]
rs2115703	0.92[ASN][1000 genomes]
rs2132471	0.87[ASN][1000 genomes]
rs2163124	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2172997	0.88[ASN][1000 genomes]
rs2217391	0.93[ASN][1000 genomes]
rs2345068	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2345070	0.89[ASN][1000 genomes]
rs34177605	0.93[ASN][1000 genomes]
rs34872724	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4416800	0.87[ASN][1000 genomes]
rs4734126	0.86[ASN][1000 genomes]
rs4734128	0.92[ASN][1000 genomes]
rs4734892	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734893	0.87[ASN][1000 genomes]
rs4734894	0.87[ASN][1000 genomes]
rs4734895	0.87[ASN][1000 genomes]
rs55639043	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55729609	0.92[ASN][1000 genomes]
rs55762012	0.92[ASN][1000 genomes]
rs55811614	0.86[ASN][1000 genomes]
rs56352125	0.92[ASN][1000 genomes]
rs56402027	0.92[ASN][1000 genomes]
rs57607757	0.86[ASN][1000 genomes]
rs57715289	0.86[ASN][1000 genomes]
rs59123253	0.88[ASN][1000 genomes]
rs59858392	0.86[ASN][1000 genomes]
rs60482457	0.85[ASN][1000 genomes]
rs62525696	0.86[ASN][1000 genomes]
rs62525736	0.87[ASN][1000 genomes]
rs62527360	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62527363	0.92[ASN][1000 genomes]
rs62527373	0.92[ASN][1000 genomes]
rs62527374	0.92[ASN][1000 genomes]
rs62527375	0.87[ASN][1000 genomes]
rs62527376	0.92[ASN][1000 genomes]
rs62527400	0.92[ASN][1000 genomes]
rs62527405	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6415444	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469023	0.87[ASN][1000 genomes]
rs6469026	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469027	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469028	0.88[ASN][1000 genomes]
rs6469030	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6469031	0.88[ASN][1000 genomes]
rs6469032	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6987512	0.87[ASN][1000 genomes]
rs6997487	0.86[ASN][1000 genomes]
rs6999580	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7003520	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7006651	0.80[AMR][1000 genomes]
rs7008840	0.92[ASN][1000 genomes]
rs7012379	0.82[ASN][1000 genomes]
rs72676052	0.92[ASN][1000 genomes]
rs7460291	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7812766	0.91[ASN][1000 genomes]
rs7815337	0.92[ASN][1000 genomes]
rs7819043	0.87[ASN][1000 genomes]
rs7819501	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7829054	0.92[ASN][1000 genomes]
rs7830426	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7836196	0.86[ASN][1000 genomes]
rs7839195	0.91[ASN][1000 genomes]
rs7839239	0.89[ASN][1000 genomes]
rs7843166	0.83[ASN][1000 genomes]
rs7846149	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7846262	0.92[ASN][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107059200-107072000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:107060600-107070800	Weak transcription	A549	lung
3	chr8:107067400-107070800	Weak transcription	Hela-S3	cervix
4	chr8:107067600-107070600	Weak transcription	NHLF	lung
5	chr8:107067600-107071200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:107067800-107070600	Weak transcription	K562	blood
7	chr8:107067800-107071200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:107067800-107071800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:107068000-107071000	Weak transcription	NHDF-Ad	bronchial
10	chr8:107068000-107073600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:107068200-107070800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:107068200-107070800	Weak transcription	Osteobl	bone
13	chr8:107068200-107071600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:107068200-107072000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:107068400-107070800	Weak transcription	Fetal Kidney	kidney
16	chr8:107069000-107070800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:107069800-107070400	Weak transcription	NH-A	brain
18	chr8:107070000-107070800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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