Variant report

Variant	rs16927308
Chromosome Location	chr8:48436628-48436629
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	STAT3	chr8:48436568-48438125	MCF10A-Er-Src	breast:	n/a	chr8:48437697-48437705 chr8:48437976-48437987 chr8:48437654-48437665 chr8:48437518-48437525
2	FOS	chr8:48436615-48437162	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr8:48436601-48438114	MCF10A-Er-Src	breast:	n/a	chr8:48437697-48437705 chr8:48437976-48437987 chr8:48437654-48437665 chr8:48437518-48437525
4	FOS	chr8:48436612-48438017	MCF10A-Er-Src	breast:	n/a	chr8:48437798-48437808 chr8:48437798-48437808 chr8:48437798-48437808
5	STAT3	chr8:48436471-48438134	MCF10A-Er-Src	breast:	n/a	chr8:48437697-48437705 chr8:48437976-48437987 chr8:48437654-48437665 chr8:48437518-48437525

No.	Distal block	Cell Line	Cell type
1	chr8:48435895..48437509-chr8:48455733..48457442,2	MCF-7	breast:
2	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
3	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:
4	chr8:48435448..48437603-chr8:48438806..48441568,2	K562	blood:
5	chr8:48425055..48429090-chr8:48432986..48438786,8	MCF-7	breast:
6	chr8:48431010..48432979-chr8:48435160..48436961,2	K562	blood:

Variant related genes	Relation type
ENSG00000269924	TF binding region
ENSG00000269924	Chromatin interaction
ENSG00000164808	Chromatin interaction
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs16925237	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs16926041	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs16926621	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs16927336	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16930142	0.94[YRI][hapmap]
rs2362918	1.00[AMR][1000 genomes]
rs56807775	1.00[AMR][1000 genomes]
rs57210767	1.00[AMR][1000 genomes]
rs57274985	1.00[AMR][1000 genomes]
rs57659543	1.00[AMR][1000 genomes]
rs58572522	1.00[AMR][1000 genomes]
rs58592579	1.00[AMR][1000 genomes]
rs58965290	1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	1.00[AMR][1000 genomes]
rs59422998	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	1.00[AMR][1000 genomes]
rs61376238	1.00[AMR][1000 genomes]
rs61519381	1.00[AMR][1000 genomes]
rs73565212	1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	1.00[AMR][1000 genomes]
rs73565220	1.00[AMR][1000 genomes]
rs73565225	1.00[AMR][1000 genomes]
rs73565226	1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	1.00[AMR][1000 genomes]
rs73565236	1.00[AMR][1000 genomes]
rs73565244	1.00[AMR][1000 genomes]
rs73565247	1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565260	1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	1.00[AMR][1000 genomes]
rs73565273	1.00[AMR][1000 genomes]
rs73565275	1.00[AMR][1000 genomes]
rs73565280	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565297	1.00[AMR][1000 genomes]
rs73565299	1.00[AMR][1000 genomes]
rs73567507	1.00[AMR][1000 genomes]
rs73567511	1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	1.00[AMR][1000 genomes]
rs73567589	1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	1.00[AMR][1000 genomes]
rs73567594	1.00[AMR][1000 genomes]
rs73567596	1.00[AMR][1000 genomes]
rs73567597	1.00[AMR][1000 genomes]
rs73569205	1.00[AMR][1000 genomes]
rs73569208	1.00[AMR][1000 genomes]
rs73569212	1.00[AMR][1000 genomes]
rs73569216	1.00[AMR][1000 genomes]
rs73569220	1.00[AMR][1000 genomes]
rs73569223	1.00[AMR][1000 genomes]
rs73569224	1.00[AMR][1000 genomes]
rs73569227	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571448	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571453	1.00[AMR][1000 genomes]
rs73571454	1.00[AMR][1000 genomes]
rs73571459	1.00[AMR][1000 genomes]
rs73571460	1.00[AMR][1000 genomes]
rs73571462	1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	1.00[AMR][1000 genomes]
rs73571469	1.00[AMR][1000 genomes]
rs73582831	1.00[AMR][1000 genomes]
rs73582835	1.00[AMR][1000 genomes]
rs73582836	1.00[AMR][1000 genomes]
rs73582845	1.00[AMR][1000 genomes]
rs73582848	1.00[AMR][1000 genomes]
rs73582860	1.00[AMR][1000 genomes]
rs73582863	1.00[AMR][1000 genomes]
rs73582864	1.00[AMR][1000 genomes]
rs73582865	1.00[AMR][1000 genomes]
rs73582867	1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]
rs8178271	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48423800-48436800	Weak transcription	Thymus	Thymus
2	chr8:48424400-48438800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:48427800-48437000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:48428200-48437400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:48428200-48439800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:48432600-48436800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:48432600-48437000	Enhancers	Adipose Nuclei	Adipose
8	chr8:48432600-48439800	Enhancers	Fetal Lung	lung
9	chr8:48432800-48437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:48433400-48436800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:48433400-48437200	Enhancers	Left Ventricle	heart
12	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
13	chr8:48434200-48439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:48434200-48440000	Enhancers	Fetal Muscle Leg	muscle
15	chr8:48434400-48437000	Enhancers	Right Atrium	heart
16	chr8:48434400-48437600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:48434400-48439800	Enhancers	Placenta	Placenta
18	chr8:48434400-48439800	Enhancers	Stomach Mucosa	stomach
19	chr8:48434400-48440200	Enhancers	Duodenum Mucosa	Duodenum
20	chr8:48434400-48444400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:48434600-48437000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr8:48434600-48437200	Enhancers	Lung	lung
23	chr8:48434600-48440000	Enhancers	Brain Anterior Caudate	brain
24	chr8:48434600-48440000	Enhancers	Brain Hippocampus Middle	brain
25	chr8:48434600-48440400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:48434800-48436800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:48434800-48436800	Enhancers	A549	lung
28	chr8:48434800-48436800	Enhancers	HepG2	liver
29	chr8:48434800-48437000	Enhancers	Colonic Mucosa	Colon
30	chr8:48434800-48437000	Enhancers	NHLF	lung
31	chr8:48434800-48437200	Enhancers	Primary hematopoietic stem cells	blood
32	chr8:48434800-48437200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:48434800-48437200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr8:48434800-48437200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:48434800-48438800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:48434800-48438800	Enhancers	NHDF-Ad	bronchial
37	chr8:48434800-48439200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:48434800-48439200	Enhancers	Hela-S3	cervix
39	chr8:48434800-48439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:48434800-48439800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:48434800-48440000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:48434800-48440000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:48434800-48440000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:48434800-48440200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:48434800-48440400	Enhancers	Brain Cingulate Gyrus	brain
46	chr8:48434800-48440400	Enhancers	Fetal Intestine Large	intestine
47	chr8:48435000-48436800	Enhancers	Fetal Heart	heart
48	chr8:48435000-48436800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:48435000-48436800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr8:48435000-48437000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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