Variant report

Variant	rs2445715
Chromosome Location	chr8:95274016-95274017
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	POLR2A	chr8:95273910-95274713	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:95264764-95275103	IMR90	lung:	n/a	n/a
3	IRF4	chr8:95273750-95274509	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:95270042-95274844	HCT-116	colon:	n/a	n/a
5	WRNIP1	chr8:95273801-95275050	GM12878	blood:	n/a	n/a
6	RELA	chr8:95273973-95274799	GM12892	blood:	n/a	n/a
7	STAT5A	chr8:95273818-95274816	GM12878	blood:	n/a	chr8:95274067-95274079
8	POLR2A	chr8:95273827-95274976	GM12891	blood:	n/a	n/a
9	RCOR1	chr8:95273871-95274878	GM12878	blood:	n/a	n/a
10	RFX5	chr8:95273859-95274797	GM12878	blood:	n/a	n/a
11	RELA	chr8:95273979-95274966	GM15510	blood:	n/a	n/a
12	POLR2A	chr8:95272370-95274824	PBDE	blood:	n/a	n/a
13	CREB1	chr8:95273951-95274902	GM12878	blood:	n/a	chr8:95274606-95274619
14	HDAC2	chr8:95273991-95274867	MCF-7	breast:	n/a	chr8:95274760-95274774 chr8:95274761-95274775
15	POU2F2	chr8:95273764-95274743	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:95270203-95274737	U87	brain:	n/a	n/a
17	POLR2A	chr8:95273906-95274691	GM12878	blood:	n/a	n/a
18	CTCF	chr8:95273940-95274090	HCPEpiC	choroid plexus:	n/a	n/a
19	POLR2A	chr8:95273713-95274771	GM12892	blood:	n/a	n/a
20	POLR2A	chr8:95273804-95274659	GM12891	blood:	n/a	n/a
21	PML	chr8:95273800-95274894	GM12878	blood:	n/a	n/a
22	ZNF143	chr8:95273984-95274881	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:95273771-95274683	GM12891	blood:	n/a	n/a
24	MTA3	chr8:95273757-95275191	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:95273960-95274818	HCT-116	colon:	n/a	n/a
26	RELA	chr8:95273875-95274880	GM19193	blood:	n/a	n/a
27	MXI1	chr8:95273967-95274909	GM12878	blood:	n/a	n/a
28	MAZ	chr8:95273576-95275360	IMR90	lung:	n/a	chr8:95274691-95274700
29	POLR2A	chr8:95273809-95274645	GM12891	blood:	n/a	n/a
30	SMC3	chr8:95273822-95275126	GM12878	blood:	n/a	chr8:95274625-95274639 chr8:95274539-95274549
31	TBP	chr8:95273831-95274759	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:95273848-95274753	GM12892	blood:	n/a	n/a
33	SPI1	chr8:95273763-95274080	GM12891	blood:	n/a	n/a
34	CHD2	chr8:95273959-95274983	GM12878	blood:	n/a	n/a
35	CHD1	chr8:95269601-95275342	IMR90	lung:	n/a	n/a
36	MXI1	chr8:95271947-95275039	IMR90	lung:	n/a	n/a
37	BCLAF1	chr8:95273967-95274716	GM12878	blood:	n/a	chr8:95274546-95274559 chr8:95274552-95274561 chr8:95274553-95274566 chr8:95274385-95274394 chr8:95274549-95274562
38	POLR2A	chr8:95273907-95274961	H1-hESC	embryonic stem cell:	n/a	n/a
39	ELK1	chr8:95273966-95274722	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:95273440-95274786	GM12878	blood:	n/a	n/a
41	TCF12	chr8:95273702-95274972	A549	lung:	n/a	n/a
42	POLR2A	chr8:95273769-95274700	GM12892	blood:	n/a	n/a
43	POLR2A	chr8:95273851-95274719	GM12878	blood:	n/a	n/a
44	POLR2A	chr8:95273656-95274835	GM12892	blood:	n/a	n/a
45	POLR2A	chr8:95273723-95274855	GM12892	blood:	n/a	n/a
46	BHLHE40	chr8:95273763-95274889	GM12878	blood:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
47	POLR2A	chr8:95264619-95274882	U87	brain:	n/a	n/a
48	POLR2A	chr8:95273675-95274669	GM12891	blood:	n/a	n/a
49	RELA	chr8:95273960-95275006	GM18951	blood:	n/a	n/a
50	IRF4	chr8:95273712-95274515	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GEM	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1050616	0.81[CEU][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap]
rs2250208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445716	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470722	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470723	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470724	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470725	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470726	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514791	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs923313	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.87[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95270200-95274800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:95270200-95275000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:95270600-95274800	Active TSS	Brain Anterior Caudate	brain
4	chr8:95271000-95274800	Active TSS	Brain Cingulate Gyrus	brain
5	chr8:95271200-95274800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:95271200-95274800	Active TSS	Brain Substantia Nigra	brain
7	chr8:95271600-95274800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:95271800-95275000	Active TSS	Colonic Mucosa	Colon
9	chr8:95272600-95274600	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr8:95272600-95274800	Active TSS	Brain Angular Gyrus	brain
11	chr8:95272600-95275000	Active TSS	Esophagus	oesophagus
12	chr8:95272800-95274200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr8:95272800-95274800	Active TSS	Fetal Brain Female	brain
14	chr8:95272800-95275000	Active TSS	Ovary	ovary
15	chr8:95273000-95274200	Active TSS	Stomach Smooth Muscle	stomach
16	chr8:95273000-95274400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:95273000-95274800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr8:95273000-95274800	Active TSS	Rectal Smooth Muscle	rectum
19	chr8:95273200-95274200	Bivalent/Poised TSS	Thymus	Thymus
20	chr8:95273200-95274400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:95273200-95274600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:95273200-95274600	Active TSS	Placenta Amnion	Placenta Amnion
23	chr8:95273200-95274800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr8:95273200-95274800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:95273200-95274800	Active TSS	Psoas Muscle	Psoas
26	chr8:95273200-95274800	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr8:95273200-95274800	Active TSS	Stomach Mucosa	stomach
28	chr8:95273200-95274800	Active TSS	HSMMtube	muscle
29	chr8:95273200-95274800	Active TSS	NHLF	lung
30	chr8:95273200-95275000	Active TSS	Aorta	Aorta
31	chr8:95273200-95275000	Active TSS	Right Ventricle	heart
32	chr8:95273400-95274400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr8:95273400-95274600	Active TSS	Fetal Muscle Trunk	muscle
34	chr8:95273400-95274800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:95273400-95274800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:95273400-95274800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:95273400-95274800	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr8:95273400-95274800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr8:95273400-95274800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:95273400-95274800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:95273400-95274800	Active TSS	Brain Hippocampus Middle	brain
42	chr8:95273400-95274800	Active TSS	Colon Smooth Muscle	Colon
43	chr8:95273400-95274800	Active TSS	Duodenum Mucosa	Duodenum
44	chr8:95273400-95274800	Active TSS	Left Ventricle	heart
45	chr8:95273400-95274800	Active TSS	A549	lung
46	chr8:95273400-95274800	Active TSS	NHDF-Ad	bronchial
47	chr8:95273400-95275000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:95273400-95275000	Active TSS	Right Atrium	heart
49	chr8:95273600-95274200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:95273600-95274400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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