Variant report

Variant	rs2470724
Chromosome Location	chr8:95273837-95273838
allele	A/C
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	chr8:95264764-95275103	IMR90	lung:	n/a	n/a
2	IRF4	chr8:95273750-95274509	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:95270042-95274844	HCT-116	colon:	n/a	n/a
4	WRNIP1	chr8:95273801-95275050	GM12878	blood:	n/a	n/a
5	STAT5A	chr8:95273818-95274816	GM12878	blood:	n/a	chr8:95274067-95274079
6	POLR2A	chr8:95273827-95274976	GM12891	blood:	n/a	n/a
7	POLR2A	chr8:95272370-95274824	PBDE	blood:	n/a	n/a
8	POU2F2	chr8:95273764-95274743	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:95270203-95274737	U87	brain:	n/a	n/a
10	POLR2A	chr8:95273713-95274771	GM12892	blood:	n/a	n/a
11	POLR2A	chr8:95273804-95274659	GM12891	blood:	n/a	n/a
12	PML	chr8:95273800-95274894	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:95273771-95274683	GM12891	blood:	n/a	n/a
14	MTA3	chr8:95273757-95275191	GM12878	blood:	n/a	n/a
15	MAZ	chr8:95273576-95275360	IMR90	lung:	n/a	chr8:95274691-95274700
16	POLR2A	chr8:95273809-95274645	GM12891	blood:	n/a	n/a
17	SMC3	chr8:95273822-95275126	GM12878	blood:	n/a	chr8:95274625-95274639 chr8:95274539-95274549
18	TBP	chr8:95273831-95274759	GM12878	blood:	n/a	n/a
19	SPI1	chr8:95273763-95274080	GM12891	blood:	n/a	n/a
20	CHD1	chr8:95269601-95275342	IMR90	lung:	n/a	n/a
21	MXI1	chr8:95271947-95275039	IMR90	lung:	n/a	n/a
22	POLR2A	chr8:95273440-95274786	GM12878	blood:	n/a	n/a
23	TCF12	chr8:95273702-95274972	A549	lung:	n/a	n/a
24	POLR2A	chr8:95273769-95274700	GM12892	blood:	n/a	n/a
25	POLR2A	chr8:95273656-95274835	GM12892	blood:	n/a	n/a
26	POLR2A	chr8:95273723-95274855	GM12892	blood:	n/a	n/a
27	BHLHE40	chr8:95273763-95274889	GM12878	blood:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
28	POLR2A	chr8:95264619-95274882	U87	brain:	n/a	n/a
29	POLR2A	chr8:95273675-95274669	GM12891	blood:	n/a	n/a
30	IRF4	chr8:95273712-95274515	GM12878	blood:	n/a	n/a
31	YY1	chr8:95273738-95274069	GM12892	blood:	n/a	n/a
32	RELA	chr8:95273498-95274933	GM12891	blood:	n/a	n/a
33	POLR2A	chr8:95269480-95274882	U87	brain:	n/a	n/a
34	YY1	chr8:95273668-95274774	GM12878	blood:	n/a	chr8:95274551-95274565 chr8:95274537-95274546 chr8:95274548-95274562 chr8:95274553-95274562 chr8:95274618-95274627
35	RUNX3	chr8:95273738-95274819	GM12878	blood:	n/a	n/a
36	NFIC	chr8:95273686-95274932	GM12878	blood:	n/a	n/a
37	SPI1	chr8:95273733-95274039	GM12878	blood:	n/a	n/a
38	SPI1	chr8:95273607-95274137	GM12891	blood:	n/a	n/a
39	YY1	chr8:95273736-95274278	GM12891	blood:	n/a	n/a
40	POLR2A	chr8:95273454-95274757	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GEM	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2250208	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445715	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445716	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470722	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470723	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470725	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470726	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514791	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515147	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs923313	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022382	chr8:95261955-95283587	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1023617	chr8:95261955-95284414	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95259600-95274000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:95267800-95274000	Weak transcription	Gastric	stomach
3	chr8:95269800-95274000	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
4	chr8:95270200-95274800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:95270200-95275000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:95270600-95274800	Active TSS	Brain Anterior Caudate	brain
7	chr8:95271000-95274800	Active TSS	Brain Cingulate Gyrus	brain
8	chr8:95271200-95274800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr8:95271200-95274800	Active TSS	Brain Substantia Nigra	brain
10	chr8:95271600-95274800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:95271800-95275000	Active TSS	Colonic Mucosa	Colon
12	chr8:95272000-95274000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:95272400-95274000	Active TSS	Lung	lung
14	chr8:95272600-95274000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr8:95272600-95274000	Enhancers	Placenta	Placenta
16	chr8:95272600-95274000	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr8:95272600-95274600	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr8:95272600-95274800	Active TSS	Brain Angular Gyrus	brain
19	chr8:95272600-95275000	Active TSS	Esophagus	oesophagus
20	chr8:95272800-95274000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:95272800-95274000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr8:95272800-95274000	Weak transcription	Spleen	Spleen
23	chr8:95272800-95274200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr8:95272800-95274800	Active TSS	Fetal Brain Female	brain
25	chr8:95272800-95275000	Active TSS	Ovary	ovary
26	chr8:95273000-95274200	Active TSS	Stomach Smooth Muscle	stomach
27	chr8:95273000-95274400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:95273000-95274800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr8:95273000-95274800	Active TSS	Rectal Smooth Muscle	rectum
30	chr8:95273200-95274200	Bivalent/Poised TSS	Thymus	Thymus
31	chr8:95273200-95274400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:95273200-95274600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr8:95273200-95274600	Active TSS	Placenta Amnion	Placenta Amnion
34	chr8:95273200-95274800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr8:95273200-95274800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:95273200-95274800	Active TSS	Psoas Muscle	Psoas
37	chr8:95273200-95274800	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr8:95273200-95274800	Active TSS	Stomach Mucosa	stomach
39	chr8:95273200-95274800	Active TSS	HSMMtube	muscle
40	chr8:95273200-95274800	Active TSS	NHLF	lung
41	chr8:95273200-95275000	Active TSS	Aorta	Aorta
42	chr8:95273200-95275000	Active TSS	Right Ventricle	heart
43	chr8:95273400-95274000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr8:95273400-95274400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:95273400-95274600	Active TSS	Fetal Muscle Trunk	muscle
46	chr8:95273400-95274800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:95273400-95274800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:95273400-95274800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr8:95273400-95274800	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:95273400-95274800	Active TSS	Muscle Satellite Cultured Cells	--

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