Variant report

Variant	rs73607954
Chromosome Location	chr8:20118392-20118393
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	chr8:20117486..20119981-chr8:20127285..20130227,2	K562	blood:

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

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

rs_ID	r²[population]
rs59995861	0.93[EUR][1000 genomes]
rs73603978	0.82[EUR][1000 genomes]
rs73603980	0.82[EUR][1000 genomes]
rs73603982	0.85[EUR][1000 genomes]
rs73603990	0.93[EUR][1000 genomes]
rs73603996	0.93[EUR][1000 genomes]
rs73604002	0.93[EUR][1000 genomes]
rs73605915	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73607942	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73607943	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73607945	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7812424	0.93[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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20096800-20119400	Weak transcription	Right Atrium	heart
2	chr8:20102400-20118800	Weak transcription	NH-A	brain
3	chr8:20103000-20119400	Strong transcription	Dnd41	blood
4	chr8:20104200-20118800	Weak transcription	Fetal Intestine Large	intestine
5	chr8:20106200-20119800	Weak transcription	Osteobl	bone
6	chr8:20108400-20125200	Weak transcription	Fetal Intestine Small	intestine
7	chr8:20110200-20118400	Weak transcription	Fetal Lung	lung
8	chr8:20110200-20119000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:20110800-20119400	Weak transcription	Thymus	Thymus
10	chr8:20110800-20120000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:20111400-20122000	Weak transcription	Gastric	stomach
12	chr8:20111600-20119200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:20112600-20119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:20112600-20120400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:20112800-20118400	Weak transcription	Fetal Thymus	thymus
16	chr8:20112800-20118600	Weak transcription	Placenta	Placenta
17	chr8:20112800-20118600	Weak transcription	NHLF	lung
18	chr8:20112800-20119000	Weak transcription	HSMMtube	muscle
19	chr8:20112800-20119200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:20112800-20119200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:20113000-20118600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:20113000-20118800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:20113000-20118800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:20113200-20118400	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:20113200-20118600	Weak transcription	Brain Anterior Caudate	brain
26	chr8:20113200-20118800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:20113200-20118800	Weak transcription	Fetal Brain Female	brain
28	chr8:20113200-20119000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:20113200-20119200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:20113200-20122200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:20114200-20119200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:20116200-20118800	Strong transcription	HSMM	muscle
33	chr8:20117200-20126000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:20117600-20118400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr8:20117600-20118600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr8:20117600-20125200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:20117800-20118400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:20117800-20118600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:20117800-20118600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:20117800-20118800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:20117800-20121400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:20117800-20122000	Enhancers	Fetal Stomach	stomach
43	chr8:20118000-20118400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:20118000-20118400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:20118000-20118400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:20118000-20118600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:20118000-20118800	Bivalent Enhancer	Primary T cells from cord blood	blood
48	chr8:20118000-20119400	Bivalent Enhancer	Brain Hippocampus Middle	brain
49	chr8:20118000-20119800	Enhancers	Esophagus	oesophagus
50	chr8:20118000-20119800	Enhancers	Spleen	Spleen

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