Variant report

Variant	rs72666638
Chromosome Location	chr8:99561511-99561512
allele	A/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	CEBPB	chr8:99561492-99561744	IMR90	lung:	n/a	chr8:99561589-99561600
2	CEBPB	chr8:99561495-99561715	A549	lung:	n/a	chr8:99561589-99561600
3	CEBPB	chr8:99561508-99561729	HepG2	liver:	n/a	chr8:99561589-99561600
4	CEBPB	chr8:99561461-99561666	K562	blood:	n/a	chr8:99561589-99561600

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99561270..99563959-chr8:99566385..99568748,2	MCF-7	breast:
2	chr8:99558108..99560568-chr8:99561487..99563992,2	MCF-7	breast:

Variant related genes	Relation type
STK3	TF binding region
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10282835	1.00[ASN][1000 genomes]
rs10504986	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11785588	1.00[ASN][1000 genomes]
rs12386830	1.00[ASN][1000 genomes]
rs13277523	1.00[ASN][1000 genomes]
rs16896995	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897028	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897050	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897069	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897111	1.00[ASN][1000 genomes]
rs28621642	1.00[ASN][1000 genomes]
rs34018826	1.00[ASN][1000 genomes]
rs4554439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4615538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55793219	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807423	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55947965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56099380	1.00[ASN][1000 genomes]
rs56185259	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246659	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56290864	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356780	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666618	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666619	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666623	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666624	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666625	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666629	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666633	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666673	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666676	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666678	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666680	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666684	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666685	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666688	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666689	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666690	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666699	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668403	1.00[ASN][1000 genomes]
rs72668407	1.00[ASN][1000 genomes]
rs73699303	1.00[ASN][1000 genomes]
rs7835203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839115	1.00[ASN][1000 genomes]
rs7842869	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv611808	chr8:99544765-99591736	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1030498	chr8:99545493-99607093	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99525800-99576400	Weak transcription	Pancreas	Pancrea
2	chr8:99531000-99569600	Weak transcription	HMEC	breast
3	chr8:99531200-99561800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:99531400-99586400	Weak transcription	HSMM	muscle
5	chr8:99531600-99561800	Weak transcription	Esophagus	oesophagus
6	chr8:99533400-99566400	Weak transcription	NHLF	lung
7	chr8:99534600-99567200	Weak transcription	A549	lung
8	chr8:99535400-99571600	Weak transcription	Gastric	stomach
9	chr8:99543000-99566800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:99544000-99566800	Weak transcription	Brain Substantia Nigra	brain
11	chr8:99544600-99587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:99546000-99571600	Weak transcription	Fetal Intestine Small	intestine
13	chr8:99546600-99576400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:99548600-99569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:99548800-99563400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:99549800-99568200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:99551200-99561800	Weak transcription	Brain Angular Gyrus	brain
18	chr8:99551400-99566000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:99551800-99562000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:99552000-99572600	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:99553400-99569600	Weak transcription	Fetal Lung	lung
22	chr8:99553400-99586000	Weak transcription	Ovary	ovary
23	chr8:99553600-99589600	Weak transcription	Fetal Stomach	stomach
24	chr8:99553800-99561800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:99553800-99566800	Weak transcription	Adipose Nuclei	Adipose
26	chr8:99554200-99567800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:99554800-99572800	Weak transcription	Dnd41	blood
28	chr8:99554800-99593200	Weak transcription	K562	blood
29	chr8:99555400-99564000	Weak transcription	Primary T cells from cord blood	blood
30	chr8:99556000-99571600	Weak transcription	Fetal Intestine Large	intestine
31	chr8:99556200-99606200	Weak transcription	Psoas Muscle	Psoas
32	chr8:99557800-99581400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:99558800-99564800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:99559200-99562600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:99559200-99564400	Weak transcription	NHDF-Ad	bronchial
36	chr8:99559200-99581600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:99559600-99562000	Weak transcription	Small Intestine	intestine
38	chr8:99559600-99569600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:99559600-99586200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:99559600-99586600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:99559600-99596200	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:99559800-99561600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:99559800-99562200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:99559800-99562400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr8:99559800-99564400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:99559800-99588400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:99559800-99601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:99560000-99562000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:99560000-99562000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:99560000-99566200	Weak transcription	HSMMtube	muscle

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