Variant report

Variant	rs72668483
Chromosome Location	chr8:100024538-100024539
allele	A/G
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	POLR2A	chr8:100024474-100026200	GM12878	blood:	n/a	n/a
2	ELF1	chr8:100024527-100026056	HCT-116	colon:	n/a	chr8:100025484-100025493 chr8:100025203-100025215 chr8:100025253-100025264 chr8:100025201-100025210
3	MAZ	chr8:100024120-100026176	IMR90	lung:	n/a	chr8:100025597-100025607
4	ZNF263	chr8:100024001-100026187	HEK293-T-REx	kidney:	n/a	chr8:100025782-100025791
5	MAFF	chr8:100024491-100024995	K562	blood:	n/a	n/a
6	POLR2A	chr8:100024488-100024558	K562	blood:	n/a	n/a
7	POLR2A	chr8:100024261-100026305	GM12891	blood:	n/a	n/a
8	MTA3	chr8:100024230-100026277	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr8:100024398-100026456	MCF-7	breast:	n/a	n/a
10	GABPA	chr8:100024500-100026344	MCF-7	breast:	n/a	chr8:100025202-100025216
11	POLR2A	chr8:100024340-100026203	MCF10A-Er-Src	breast:	n/a	n/a
12	TAL1	chr8:100024472-100025807	K562	blood:	n/a	n/a
13	MYC	chr8:100024352-100026261	K562	blood:	n/a	chr8:100025597-100025607
14	IRF1	chr8:100024407-100026287	K562	blood:	n/a	n/a
15	GATA1	chr8:100024141-100026319	PBDE	blood:	n/a	chr8:100024663-100024679
16	HA-E2F1	chr8:100024255-100026043	MCF-7	breast:	n/a	n/a
17	POLR2A	chr8:100024503-100025976	GM12878	blood:	n/a	n/a
18	MAFK	chr8:100024505-100024569	K562	blood:	n/a	n/a
19	POLR2A	chr8:100024534-100025975	SK-N-MC	brain:	n/a	n/a
20	HCFC1	chr8:100024449-100026037	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr8:100024228-100024669	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:100024529-100026252	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:
2	chr8:99953586..99962238-chr8:100023509..100028680,26	MCF-7	breast:
3	chr8:99717164..99718794-chr8:100022848..100024966,2	K562	blood:
4	chr8:100013186..100018258-chr8:100022769..100026424,8	MCF-7	breast:
5	chr8:99955273..99957309-chr8:100023910..100025896,2	K562	blood:
6	chr8:100024284..100027084-chr8:100113982..100120280,5	MCF-7	breast:

Variant related genes	Relation type
VPS13B	TF binding region
ENSG00000271930	Chromatin interaction
ENSG00000164920	Chromatin interaction
ENSG00000104375	Chromatin interaction
ENSG00000253180	Chromatin interaction
ENSG00000132549	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10087533	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10088152	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10091793	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10092190	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10096925	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10098153	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10104826	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10106041	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10108567	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109066	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808363	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10955197	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10955202	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11786078	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547301	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547849	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550128	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12680054	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13256012	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13277925	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28886569	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2922070	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3019296	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34211616	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34836224	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35018432	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4131359	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4133425	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4236854	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4260868	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4307310	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4317539	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4319053	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4327836	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4394363	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4428646	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4455798	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4461878	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4481561	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4489303	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4520132	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4552872	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734421	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735603	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735604	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4735607	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55691643	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55837765	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55871624	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56315283	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60950457	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60967421	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6415433	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6468647	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468659	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6468663	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6468665	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6468669	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6468671	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6468675	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6986710	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6989201	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6990741	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6991283	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6991585	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6992480	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6993878	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6997225	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7006391	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007494	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7011648	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7011936	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7016044	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7016304	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7017261	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72668476	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72670294	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72670297	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72670301	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72672309	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72672313	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7341605	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7460376	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7461275	0.86[AMR][1000 genomes]
rs7462457	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815414	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7818051	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7835084	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7836899	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7840337	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7842393	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9297289	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9642956	0.85[ASN][1000 genomes]
rs9642958	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100015200-100024800	Weak transcription	Spleen	Spleen
2	chr8:100023200-100027200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:100023200-100027200	Active TSS	K562	blood
4	chr8:100023400-100024600	Flanking Active TSS	GM12878-XiMat	blood
5	chr8:100023600-100024800	Flanking Active TSS	Dnd41	blood
6	chr8:100023600-100027000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr8:100023800-100024600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:100023800-100024600	Flanking Active TSS	A549	lung
9	chr8:100023800-100026400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:100024000-100024600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:100024000-100024600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:100024000-100024600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:100024000-100024600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:100024000-100024600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:100024000-100024600	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr8:100024000-100024600	Flanking Active TSS	Right Ventricle	heart
17	chr8:100024000-100024600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr8:100024000-100024600	Flanking Active TSS	NHEK	skin
19	chr8:100024000-100024800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr8:100024000-100024800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:100024000-100024800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:100024000-100024800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:100024000-100025000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr8:100024000-100025000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr8:100024000-100025000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:100024000-100025600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:100024000-100026800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:100024000-100026800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr8:100024000-100027200	Active TSS	NHLF	lung
30	chr8:100024200-100024600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:100024200-100024600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:100024200-100024600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:100024200-100024600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr8:100024200-100024600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:100024200-100024600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:100024200-100024600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr8:100024200-100024600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:100024200-100024600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:100024200-100024600	Flanking Active TSS	Liver	Liver
40	chr8:100024200-100024600	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr8:100024200-100024600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr8:100024200-100024600	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr8:100024200-100024600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr8:100024200-100024600	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr8:100024200-100024600	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr8:100024200-100024600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr8:100024200-100024600	Enhancers	Esophagus	oesophagus
48	chr8:100024200-100024600	Flanking Active TSS	Fetal Heart	heart
49	chr8:100024200-100024600	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr8:100024200-100024600	Flanking Active TSS	Fetal Kidney	kidney

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