Variant report

Variant	rs73206580
Chromosome Location	chr8:19698505-19698506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr8:19698388-19699226	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19693186..19695128-chr8:19697682..19700300,2	K562	blood:
2	chr8:19698148..19700086-chr8:20077801..20079801,2	K562	blood:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11779896	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11783801	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11786874	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11994107	0.85[EUR][1000 genomes]
rs11994564	0.87[EUR][1000 genomes]
rs17091532	0.81[EUR][1000 genomes]
rs4614014	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55896328	0.87[EUR][1000 genomes]
rs58724686	0.81[EUR][1000 genomes]
rs73204749	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73206573	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73206576	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19676000-19699000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:19676000-19710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:19676600-19705800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:19676600-19707200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:19676600-19707800	Strong transcription	Osteobl	bone
6	chr8:19676800-19702400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:19676800-19707400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:19677000-19700400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:19677000-19701200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:19677000-19703800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:19677000-19706200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:19677000-19706800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr8:19677000-19707000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:19677000-19710600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:19677200-19700600	Strong transcription	Primary B cells from cord blood	blood
16	chr8:19677200-19700600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:19677200-19701000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:19677200-19703000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:19677200-19703800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:19677200-19704000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:19677200-19704600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:19677200-19706800	Strong transcription	Fetal Thymus	thymus
23	chr8:19677200-19707000	Strong transcription	Adipose Nuclei	Adipose
24	chr8:19677200-19707800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:19677200-19710400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:19677200-19710400	Strong transcription	Placenta	Placenta
27	chr8:19677200-19710600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:19677400-19702400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:19677400-19703000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr8:19677400-19707000	Strong transcription	Dnd41	blood
31	chr8:19677400-19707200	Strong transcription	Primary T cells from cord blood	blood
32	chr8:19677400-19708400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr8:19677400-19710400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:19677400-19710800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:19677600-19700200	Strong transcription	GM12878-XiMat	blood
36	chr8:19677600-19706600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:19677600-19707000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr8:19677600-19709400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:19677800-19700200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:19677800-19706800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:19679000-19706800	Strong transcription	HepG2	liver
42	chr8:19679200-19710400	Strong transcription	Liver	Liver
43	chr8:19682600-19699800	Weak transcription	Stomach Mucosa	stomach
44	chr8:19683600-19703400	Strong transcription	Fetal Intestine Large	intestine
45	chr8:19683600-19710200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:19683800-19703400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:19684400-19711400	Strong transcription	A549	lung
48	chr8:19685600-19705800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:19686000-19704800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:19686000-19705800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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