Variant report

Variant	rs73533809
Chromosome Location	chr8:9417247-9417248
allele	G/T
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	FOXA1	chr8:9417007-9417297	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:9413509..9415048-chr8:9415515..9417474,2	MCF-7	breast:
2	chr8:9413652..9415403-chr8:9416185..9419439,4	MCF-7	breast:
3	chr8:9413105..9415000-chr8:9415531..9419993,5	K562	blood:

Variant related genes	Relation type
ENSG00000272267	TF binding region
ENSG00000173273	Chromatin interaction
ENSG00000272267	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10089150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094356	1.00[EUR][1000 genomes]
rs10098965	1.00[EUR][1000 genomes]
rs10101221	1.00[EUR][1000 genomes]
rs10101642	1.00[EUR][1000 genomes]
rs10102866	1.00[EUR][1000 genomes]
rs10104208	1.00[EUR][1000 genomes]
rs10109453	1.00[EUR][1000 genomes]
rs11249921	1.00[EUR][1000 genomes]
rs13260490	1.00[EUR][1000 genomes]
rs1458941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17150077	1.00[EUR][1000 genomes]
rs17155390	1.00[EUR][1000 genomes]
rs2409572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28452227	1.00[EUR][1000 genomes]
rs28479025	1.00[EUR][1000 genomes]
rs28523514	1.00[EUR][1000 genomes]
rs28635251	1.00[EUR][1000 genomes]
rs2898215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34625531	1.00[EUR][1000 genomes]
rs4342598	1.00[EUR][1000 genomes]
rs4599815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55670933	1.00[EUR][1000 genomes]
rs55729276	1.00[EUR][1000 genomes]
rs55870346	1.00[EUR][1000 genomes]
rs55893352	1.00[EUR][1000 genomes]
rs56188005	1.00[EUR][1000 genomes]
rs56326922	1.00[EUR][1000 genomes]
rs56411177	1.00[EUR][1000 genomes]
rs56784931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56951452	1.00[EUR][1000 genomes]
rs57026077	1.00[EUR][1000 genomes]
rs57027206	1.00[EUR][1000 genomes]
rs57409491	1.00[AMR][1000 genomes]
rs57673085	1.00[EUR][1000 genomes]
rs58165072	1.00[EUR][1000 genomes]
rs58361831	1.00[EUR][1000 genomes]
rs58766098	1.00[EUR][1000 genomes]
rs58868633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59400423	1.00[EUR][1000 genomes]
rs59517107	1.00[EUR][1000 genomes]
rs59815980	1.00[EUR][1000 genomes]
rs60035611	1.00[EUR][1000 genomes]
rs60044335	1.00[EUR][1000 genomes]
rs60206878	1.00[EUR][1000 genomes]
rs60338966	1.00[EUR][1000 genomes]
rs60862678	1.00[EUR][1000 genomes]
rs61515500	1.00[EUR][1000 genomes]
rs6601310	1.00[AMR][1000 genomes]
rs6993310	1.00[AMR][1000 genomes]
rs7002894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73523206	1.00[EUR][1000 genomes]
rs73523216	1.00[EUR][1000 genomes]
rs73523232	1.00[EUR][1000 genomes]
rs73524874	1.00[EUR][1000 genomes]
rs73524875	1.00[EUR][1000 genomes]
rs73526914	1.00[EUR][1000 genomes]
rs73526934	1.00[EUR][1000 genomes]
rs73526939	1.00[EUR][1000 genomes]
rs73526944	1.00[EUR][1000 genomes]
rs73526947	1.00[EUR][1000 genomes]
rs73526950	1.00[EUR][1000 genomes]
rs73526954	1.00[EUR][1000 genomes]
rs73529194	1.00[EUR][1000 genomes]
rs73529199	1.00[EUR][1000 genomes]
rs73531222	1.00[EUR][1000 genomes]
rs73531224	1.00[EUR][1000 genomes]
rs73531227	1.00[EUR][1000 genomes]
rs73531236	1.00[EUR][1000 genomes]
rs73531638	1.00[EUR][1000 genomes]
rs73531644	1.00[EUR][1000 genomes]
rs73531647	1.00[EUR][1000 genomes]
rs73535823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73535825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73535829	1.00[EUR][1000 genomes]
rs73535847	1.00[EUR][1000 genomes]
rs73537913	1.00[EUR][1000 genomes]
rs73537918	1.00[EUR][1000 genomes]
rs73537929	1.00[EUR][1000 genomes]
rs73537933	1.00[EUR][1000 genomes]
rs73537946	1.00[EUR][1000 genomes]
rs73537997	1.00[EUR][1000 genomes]
rs73539914	1.00[EUR][1000 genomes]
rs73539916	1.00[EUR][1000 genomes]
rs73539923	1.00[EUR][1000 genomes]
rs73539929	1.00[EUR][1000 genomes]
rs73662509	1.00[EUR][1000 genomes]
rs73664743	1.00[EUR][1000 genomes]
rs73664756	1.00[EUR][1000 genomes]
rs73664772	1.00[EUR][1000 genomes]
rs73664774	1.00[EUR][1000 genomes]
rs73664775	1.00[EUR][1000 genomes]
rs73664780	1.00[EUR][1000 genomes]
rs73664783	1.00[EUR][1000 genomes]
rs7388458	1.00[AMR][1000 genomes];1.00[EUR][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:9414400-9420600	Weak transcription	Esophagus	oesophagus
2	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:9414600-9417600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:9414600-9417600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr8:9414800-9417400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:9414800-9417600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:9414800-9418000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr8:9414800-9418800	Weak transcription	Ovary	ovary
9	chr8:9414800-9419200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:9414800-9427800	Weak transcription	Right Ventricle	heart
11	chr8:9415000-9417400	Enhancers	A549	lung
12	chr8:9415000-9435400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:9415800-9419200	Active TSS	GM12878-XiMat	blood
14	chr8:9415800-9421600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:9415800-9434800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:9416000-9432400	Weak transcription	Primary B cells from cord blood	blood
17	chr8:9416000-9434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:9416200-9419200	Enhancers	Brain Hippocampus Middle	brain
19	chr8:9416200-9420600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:9416200-9432600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:9416200-9434200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:9416400-9417400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:9416400-9420000	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:9416400-9421000	Weak transcription	NH-A	brain
25	chr8:9416400-9424800	Weak transcription	NHEK	skin
26	chr8:9416400-9426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:9416600-9430200	Weak transcription	Brain Substantia Nigra	brain
28	chr8:9416800-9417600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:9416800-9418200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:9416800-9419400	Weak transcription	HUVEC	blood vessel
31	chr8:9417000-9417600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:9417000-9417600	Enhancers	Fetal Brain Female	brain
33	chr8:9417000-9418200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:9417000-9418600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:9417000-9421600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:9417000-9434600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:9417200-9417400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:9417200-9417400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:9417200-9417600	Enhancers	Dnd41	blood
40	chr8:9417200-9417600	Enhancers	HepG2	liver
41	chr8:9417200-9418200	Weak transcription	Brain Germinal Matrix	brain
42	chr8:9417200-9418400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:9417200-9418600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:9417200-9418600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:9417200-9418600	Weak transcription	Brain Anterior Caudate	brain
46	chr8:9417200-9418800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:9417200-9421000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:9417200-9421600	Weak transcription	Liver	Liver
49	chr8:9417200-9421600	Weak transcription	Brain Angular Gyrus	brain
50	chr8:9417200-9425200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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