Variant report

Variant	rs73666003
Chromosome Location	chr8:11600872-11600873
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11595827..11599047-chr8:11599477..11602717,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17153509	1.00[AMR][1000 genomes]
rs17153516	1.00[AMR][1000 genomes]
rs17153710	1.00[ASN][1000 genomes]
rs2253935	1.00[AMR][1000 genomes]
rs2254797	1.00[AMR][1000 genomes]
rs28665608	1.00[ASN][1000 genomes]
rs3207196	1.00[ASN][1000 genomes]
rs58925969	1.00[AMR][1000 genomes]
rs73663003	1.00[AMR][1000 genomes]
rs73663004	1.00[AMR][1000 genomes]
rs73663007	1.00[AMR][1000 genomes]
rs73663175	1.00[AMR][1000 genomes]
rs73663176	1.00[AMR][1000 genomes]
rs73666004	1.00[AMR][1000 genomes]
rs73666006	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv890359	chr8:11599570-11617240	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11593400-11601400	Genic enhancers	Fetal Intestine Small	intestine
2	chr8:11596200-11604000	Enhancers	Pancreas	Pancrea
3	chr8:11597600-11601000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:11598400-11604200	Enhancers	Stomach Mucosa	stomach
5	chr8:11599000-11601000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:11599200-11602000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:11599200-11602000	Flanking Active TSS	Ovary	ovary
8	chr8:11599200-11602400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr8:11599200-11602600	Enhancers	Duodenum Mucosa	Duodenum
10	chr8:11599200-11605000	Enhancers	Left Ventricle	heart
11	chr8:11599400-11601000	Enhancers	Right Atrium	heart
12	chr8:11599400-11602000	Bivalent Enhancer	Fetal Stomach	stomach
13	chr8:11599400-11602000	Enhancers	Rectal Smooth Muscle	rectum
14	chr8:11600200-11601200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr8:11600200-11602000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:11600200-11602200	Enhancers	HepG2	liver
17	chr8:11600200-11602400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:11600400-11601000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:11600400-11601200	Flanking Active TSS	Liver	Liver
20	chr8:11600400-11601200	Genic enhancers	Gastric	stomach
21	chr8:11600400-11601400	Flanking Active TSS	Right Ventricle	heart
22	chr8:11600600-11601000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr8:11600600-11601000	Flanking Active TSS	Fetal Heart	heart
24	chr8:11600600-11601000	Bivalent Enhancer	Placenta	Placenta
25	chr8:11600600-11601600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr8:11600600-11602000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:11600600-11602400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:11600600-11602400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:11600600-11602400	Enhancers	Colon Smooth Muscle	Colon
30	chr8:11600600-11602400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
31	chr8:11600600-11602800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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