Variant report

Variant	rs72666642
Chromosome Location	chr8:99566760-99566761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99552951..99554839-chr8:99564123..99567093,2	K562	blood:
2	chr8:99561270..99563959-chr8:99566385..99568748,2	MCF-7	breast:
3	chr7:100812765..100815379-chr8:99565140..99568111,2	MCF-7	breast:
4	chr8:99558355..99561109-chr8:99565802..99568182,2	MCF-7	breast:

Variant related genes	Relation type
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]
rs72666638	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:46 , 50 per page) page: 1

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	chr8:99531400-99586400	Weak transcription	HSMM	muscle
4	chr8:99534600-99567200	Weak transcription	A549	lung
5	chr8:99535400-99571600	Weak transcription	Gastric	stomach
6	chr8:99543000-99566800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:99544000-99566800	Weak transcription	Brain Substantia Nigra	brain
8	chr8:99544600-99587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:99546000-99571600	Weak transcription	Fetal Intestine Small	intestine
10	chr8:99546600-99576400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:99548600-99569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:99549800-99568200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:99552000-99572600	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:99553400-99569600	Weak transcription	Fetal Lung	lung
15	chr8:99553400-99586000	Weak transcription	Ovary	ovary
16	chr8:99553600-99589600	Weak transcription	Fetal Stomach	stomach
17	chr8:99553800-99566800	Weak transcription	Adipose Nuclei	Adipose
18	chr8:99554200-99567800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:99554800-99572800	Weak transcription	Dnd41	blood
20	chr8:99554800-99593200	Weak transcription	K562	blood
21	chr8:99556000-99571600	Weak transcription	Fetal Intestine Large	intestine
22	chr8:99556200-99606200	Weak transcription	Psoas Muscle	Psoas
23	chr8:99557800-99581400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:99559200-99581600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:99559600-99569600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:99559600-99586200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:99559600-99586600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:99559600-99596200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:99559800-99588400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:99559800-99601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:99560200-99571600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:99560200-99586600	Weak transcription	Liver	Liver
33	chr8:99560400-99568200	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:99560400-99569600	Weak transcription	NHEK	skin
35	chr8:99560400-99586200	Weak transcription	Placenta	Placenta
36	chr8:99560400-99592800	Weak transcription	Left Ventricle	heart
37	chr8:99560400-99593400	Weak transcription	Aorta	Aorta
38	chr8:99560400-99602200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:99566000-99567000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:99566200-99567000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:99566200-99567600	Enhancers	HSMMtube	muscle
42	chr8:99566200-99568600	Enhancers	Osteobl	bone
43	chr8:99566400-99566800	Flanking Active TSS	NHDF-Ad	bronchial
44	chr8:99566400-99566800	Enhancers	NHLF	lung
45	chr8:99566400-99569000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:99566600-99567000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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