Variant report

Variant	rs11990683
Chromosome Location	chr8:124223068-124223069
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124179566..124181513-chr8:124222558..124224233,2	K562	blood:
2	chr8:124220905..124226226-chr8:124228109..124231842,7	MCF-7	breast:
3	chr8:124192726..124195153-chr8:124221121..124223388,2	K562	blood:
4	chr8:124217538..124220800-chr8:124221245..124225723,6	K562	blood:
5	chr8:124221983..124224682-chr8:124225918..124227470,2	MCF-7	breast:
6	chr8:124192673..124195153-chr8:124221888..124223847,2	K562	blood:
7	chr8:124222210..124225757-chr8:124227452..124230622,5	K562	blood:

Variant related genes	Relation type
ENSG00000221461	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000266324	Chromatin interaction
ENSG00000253258	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11786273	0.83[AFR][1000 genomes]
rs11985341	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11990772	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994660	1.00[EUR][1000 genomes]
rs16898127	1.00[EUR][1000 genomes]
rs16898165	1.00[EUR][1000 genomes]
rs55708440	1.00[EUR][1000 genomes]
rs59355895	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59413499	1.00[EUR][1000 genomes]
rs61288481	1.00[EUR][1000 genomes]
rs6989437	1.00[EUR][1000 genomes]
rs6996427	1.00[EUR][1000 genomes]
rs7000925	1.00[EUR][1000 genomes]
rs73703766	1.00[EUR][1000 genomes]
rs73703768	1.00[EUR][1000 genomes]
rs73703779	1.00[EUR][1000 genomes]
rs73703788	1.00[EUR][1000 genomes]
rs7817345	0.80[AFR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
2	chr8:124212800-124231600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:124214200-124231400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:124215800-124229400	Weak transcription	K562	blood
5	chr8:124217000-124224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:124218000-124224000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:124218000-124228800	Weak transcription	HMEC	breast
8	chr8:124218000-124229400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:124218000-124229400	Weak transcription	Gastric	stomach
10	chr8:124218000-124231600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:124219200-124224400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:124219200-124229400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:124219200-124231200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:124219200-124231400	Weak transcription	Lung	lung
15	chr8:124219200-124245800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:124219600-124224000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:124219600-124224800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:124220000-124230200	Weak transcription	Esophagus	oesophagus
19	chr8:124220200-124223200	Strong transcription	NHEK	skin
20	chr8:124220200-124224200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:124220200-124252800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:124220600-124227400	Weak transcription	Hela-S3	cervix
23	chr8:124221400-124229800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:124222000-124231400	Weak transcription	Fetal Lung	lung
25	chr8:124222000-124237000	Weak transcription	HSMMtube	muscle
26	chr8:124222400-124223600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:124223000-124228800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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