Variant report

Variant	rs2001728
Chromosome Location	chr8:99552044-99552045
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99542296..99548423-chr8:99550336..99556395,6	K562	blood:
2	chr8:99545068..99548423-chr8:99550336..99555475,4	K562	blood:
3	chr8:99537550..99540460-chr8:99551301..99553310,2	MCF-7	breast:
4	chr8:99542843..99544364-chr8:99551083..99552848,2	K562	blood:
5	chr8:99548557..99552364-chr8:99553180..99556021,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10086870	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10098835	0.80[ASN][1000 genomes]
rs10099978	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10100378	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10100546	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10100577	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10101919	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10111264	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10441501	0.89[ASN][1000 genomes]
rs10955174	0.80[ASN][1000 genomes]
rs10955176	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10955179	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10955180	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10955181	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10955184	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10955185	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11781352	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11985382	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11994001	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12056323	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12541026	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12542931	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12544768	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12547922	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12548477	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12550198	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12677171	0.92[EUR][1000 genomes]
rs13268777	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13270534	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16896996	0.80[ASN][1000 genomes]
rs1893884	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3802198	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4130753	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4301421	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4332102	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4388428	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4407850	0.80[ASN][1000 genomes]
rs4734407	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4735564	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62532757	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6651181	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6985600	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6991043	0.88[EUR][1000 genomes]
rs7011763	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015739	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7815227	0.81[AMR][1000 genomes]
rs7845395	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7845750	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9642951	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99500400-99558800	Weak transcription	Aorta	Aorta
2	chr8:99525800-99576400	Weak transcription	Pancreas	Pancrea
3	chr8:99531000-99569600	Weak transcription	HMEC	breast
4	chr8:99531200-99561800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:99531400-99586400	Weak transcription	HSMM	muscle
6	chr8:99531600-99561800	Weak transcription	Esophagus	oesophagus
7	chr8:99533400-99566400	Weak transcription	NHLF	lung
8	chr8:99534600-99567200	Weak transcription	A549	lung
9	chr8:99535400-99571600	Weak transcription	Gastric	stomach
10	chr8:99539200-99553000	Weak transcription	HepG2	liver
11	chr8:99543000-99566800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:99543600-99553200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:99543800-99555000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:99544000-99552400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:99544000-99552400	Weak transcription	Placenta	Placenta
16	chr8:99544000-99552800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:99544000-99559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:99544000-99560800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:99544000-99566800	Weak transcription	Brain Substantia Nigra	brain
20	chr8:99544200-99552200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:99544200-99558800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:99544200-99559400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:99544600-99556000	Weak transcription	Left Ventricle	heart
24	chr8:99544600-99560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:99544600-99587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:99544800-99553600	Weak transcription	Fetal Intestine Large	intestine
27	chr8:99544800-99554800	Weak transcription	Lung	lung
28	chr8:99545000-99553200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:99545000-99553800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:99545000-99554200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:99545000-99554800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:99545200-99552400	Weak transcription	GM12878-XiMat	blood
33	chr8:99545400-99552200	Weak transcription	Dnd41	blood
34	chr8:99545400-99552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:99545600-99553400	Weak transcription	NHEK	skin
36	chr8:99546000-99552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:99546000-99571600	Weak transcription	Fetal Intestine Small	intestine
38	chr8:99546400-99553000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:99546400-99557000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:99546600-99552400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:99546600-99555600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:99546600-99576400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:99547600-99553000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:99548400-99560800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:99548600-99552200	Weak transcription	K562	blood
46	chr8:99548600-99557400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:99548600-99558800	Weak transcription	HSMMtube	muscle
48	chr8:99548600-99569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:99548800-99552200	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:99548800-99554200	Weak transcription	Psoas Muscle	Psoas

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