Variant report

Variant	rs72690443
Chromosome Location	chr8:87530793-87530794
allele	C/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	EBF1	chr8:87530075-87530797	GM12878	blood:	n/a	chr8:87530574-87530585
2	CTCF	chr8:87530660-87530810	AG10803	skin:	n/a	n/a
3	WRNIP1	chr8:87530452-87530795	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:87530778-87530855	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87519549..87521500-chr8:87528535..87531458,3	K562	blood:
2	chr8:87528642..87530969-chr8:87544155..87546227,2	K562	blood:
3	chr8:87519972..87522563-chr8:87528535..87531475,3	K562	blood:
4	chr8:87481910..87484178-chr8:87529355..87531387,2	MCF-7	breast:
5	chr8:87522945..87528128-chr8:87528640..87532545,5	K562	blood:

Variant related genes	Relation type
RMDN1	TF binding region
ENSG00000176623	Chromatin interaction
ENSG00000085719	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10086188	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089169	0.88[ASN][1000 genomes]
rs10089253	0.84[ASN][1000 genomes]
rs10090898	0.85[ASN][1000 genomes]
rs10090963	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094332	1.00[ASN][1000 genomes]
rs10095589	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097866	0.84[ASN][1000 genomes]
rs10098365	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100182	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100247	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100254	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10100368	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10106390	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107117	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107571	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108586	0.84[ASN][1000 genomes]
rs10110096	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10481195	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956871	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774253	0.85[ASN][1000 genomes]
rs11774499	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776698	0.84[ASN][1000 genomes]
rs11783382	0.90[ASN][1000 genomes]
rs11984519	0.90[ASN][1000 genomes]
rs11986423	1.00[ASN][1000 genomes]
rs11994508	0.88[ASN][1000 genomes]
rs11997927	0.90[ASN][1000 genomes]
rs11998558	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16915375	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16915389	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28397606	0.90[ASN][1000 genomes]
rs28416254	0.90[ASN][1000 genomes]
rs28438974	1.00[ASN][1000 genomes]
rs28514445	1.00[ASN][1000 genomes]
rs28540009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613262	1.00[ASN][1000 genomes]
rs28687116	1.00[ASN][1000 genomes]
rs3087641	0.90[ASN][1000 genomes]
rs57638937	0.82[ASN][1000 genomes]
rs58837061	0.84[ASN][1000 genomes]
rs6651177	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651268	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332431	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980476	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992624	0.90[ASN][1000 genomes]
rs7018083	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72690416	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690447	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690455	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690457	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690474	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688856	0.84[ASN][1000 genomes]
rs73688857	0.88[ASN][1000 genomes]
rs73688858	0.88[ASN][1000 genomes]
rs73688859	0.81[ASN][1000 genomes]
rs73688862	0.88[ASN][1000 genomes]
rs7818436	0.90[ASN][1000 genomes]
rs7823951	0.97[ASN][1000 genomes]
rs7824873	1.00[ASN][1000 genomes]
rs7833201	0.97[ASN][1000 genomes]
rs7844014	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297913	0.90[ASN][1000 genomes]
rs9650128	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650129	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87527400-87568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87527600-87534600	Weak transcription	Placenta	Placenta
3	chr8:87527600-87534800	Weak transcription	HSMM	muscle
4	chr8:87527600-87535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:87527600-87539400	Weak transcription	Lung	lung
6	chr8:87527600-87542400	Weak transcription	Esophagus	oesophagus
7	chr8:87527600-87550200	Weak transcription	Aorta	Aorta
8	chr8:87527600-87562000	Weak transcription	Pancreas	Pancrea
9	chr8:87527600-87568200	Weak transcription	Gastric	stomach
10	chr8:87527600-87584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:87527800-87535400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:87527800-87541600	Weak transcription	Ovary	ovary
13	chr8:87527800-87542600	Weak transcription	A549	lung
14	chr8:87527800-87543400	Weak transcription	K562	blood
15	chr8:87527800-87546200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:87527800-87546200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:87527800-87547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:87527800-87560000	Weak transcription	HSMMtube	muscle
19	chr8:87528000-87534400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:87528000-87534800	Weak transcription	Liver	Liver
21	chr8:87528000-87535000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:87528000-87535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:87528000-87539200	Weak transcription	Brain Germinal Matrix	brain
24	chr8:87528000-87541600	Weak transcription	Fetal Brain Female	brain
25	chr8:87528000-87543200	Weak transcription	Fetal Kidney	kidney
26	chr8:87528000-87543200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:87528000-87550800	Weak transcription	Psoas Muscle	Psoas
28	chr8:87528000-87551400	Weak transcription	Right Ventricle	heart
29	chr8:87528000-87563800	Weak transcription	Hela-S3	cervix
30	chr8:87528000-87573600	Weak transcription	Stomach Mucosa	stomach
31	chr8:87528200-87531800	Weak transcription	Fetal Intestine Small	intestine
32	chr8:87528200-87534200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:87528200-87534200	Weak transcription	HMEC	breast
34	chr8:87528200-87534400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:87528200-87534400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:87528200-87534600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:87528200-87534600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:87528200-87534800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:87528200-87534800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:87528200-87534800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:87528200-87534800	Weak transcription	Fetal Lung	lung
42	chr8:87528200-87535400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:87528200-87535400	Weak transcription	Dnd41	blood
44	chr8:87528200-87535600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:87528200-87537000	Weak transcription	Fetal Stomach	stomach
46	chr8:87528200-87537200	Weak transcription	Fetal Thymus	thymus
47	chr8:87528200-87539400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:87528200-87541400	Weak transcription	Adipose Nuclei	Adipose
49	chr8:87528200-87541600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:87528200-87543200	Weak transcription	Brain Inferior Temporal Lobe	brain

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