Variant report

Variant	rs6988862
Chromosome Location	chr8:48437558-48437559
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	REST	chr8:48437374-48437926	A549	lung:	n/a	n/a
2	FOXA1	chr8:48437445-48437931	HepG2	liver:	n/a	n/a
3	HNF4A	chr8:48437488-48437870	HepG2	liver:	n/a	chr8:48437541-48437553 chr8:48437822-48437834 chr8:48437820-48437835 chr8:48437538-48437556 chr8:48437536-48437558 chr8:48437541-48437554 chr8:48437836-48437844 chr8:48437540-48437553 chr8:48437540-48437553
4	EP300	chr8:48437397-48437889	SK-N-SH_RA	brain:	n/a	chr8:48437593-48437602 chr8:48437569-48437576
5	NR3C1	chr8:48437474-48437950	A549	lung:	n/a	n/a
6	NFIC	chr8:48437451-48437891	HepG2	liver:	n/a	chr8:48437680-48437708
7	BCL3	chr8:48437371-48437990	A549	lung:	n/a	n/a
8	SP1	chr8:48436902-48438007	A549	lung:	n/a	n/a
9	ARID3A	chr8:48437168-48437824	HepG2	liver:	n/a	n/a
10	FOS	chr8:48437383-48438014	MCF10A-Er-Src	breast:	n/a	chr8:48437798-48437808 chr8:48437798-48437808 chr8:48437798-48437808
11	MYBL2	chr8:48437386-48438061	HepG2	liver:	n/a	n/a
12	EP300	chr8:48437323-48438020	HepG2	liver:	n/a	chr8:48437593-48437602 chr8:48437569-48437576
13	FOXA2	chr8:48437374-48437931	A549	lung:	n/a	n/a
14	SMC3	chr8:48437457-48437880	HepG2	liver:	n/a	n/a
15	SP1	chr8:48437353-48438042	A549	lung:	n/a	n/a
16	GATA3	chr8:48437489-48437934	A549	lung:	n/a	n/a
17	FOXA1	chr8:48437524-48437855	T-47D	breast:	n/a	n/a
18	TCF12	chr8:48436859-48438080	A549	lung:	n/a	chr8:48437038-48437048 chr8:48437829-48437839
19	CREB1	chr8:48437507-48437946	A549	lung:	n/a	n/a
20	FOXA1	chr8:48437540-48437959	HepG2	liver:	n/a	n/a
21	RAD21	chr8:48437498-48437908	SK-N-SH_RA	brain:	n/a	n/a
22	STAT3	chr8:48436568-48438125	MCF10A-Er-Src	breast:	n/a	chr8:48437697-48437705 chr8:48437976-48437987 chr8:48437654-48437665 chr8:48437518-48437525
23	SP1	chr8:48437444-48438002	HepG2	liver:	n/a	n/a
24	FOXA2	chr8:48437505-48437898	HepG2	liver:	n/a	n/a
25	EP300	chr8:48437374-48437936	HepG2	liver:	n/a	chr8:48437593-48437602 chr8:48437569-48437576
26	FOXA2	chr8:48437436-48437919	A549	lung:	n/a	n/a
27	TEAD4	chr8:48437481-48438008	HepG2	liver:	n/a	n/a
28	HNF4A	chr8:48437464-48437913	HepG2	liver:	n/a	chr8:48437541-48437553 chr8:48437822-48437834 chr8:48437820-48437835 chr8:48437538-48437556 chr8:48437536-48437558 chr8:48437541-48437554 chr8:48437836-48437844 chr8:48437540-48437553 chr8:48437540-48437553
29	STAT3	chr8:48436601-48438114	MCF10A-Er-Src	breast:	n/a	chr8:48437697-48437705 chr8:48437976-48437987 chr8:48437654-48437665 chr8:48437518-48437525
30	FOS	chr8:48436612-48438017	MCF10A-Er-Src	breast:	n/a	chr8:48437798-48437808 chr8:48437798-48437808 chr8:48437798-48437808
31	FOXA1	chr8:48437402-48438013	HepG2	liver:	n/a	n/a
32	HNF4G	chr8:48437503-48437978	HepG2	liver:	n/a	chr8:48437541-48437553 chr8:48437822-48437834 chr8:48437538-48437556 chr8:48437536-48437558 chr8:48437541-48437554 chr8:48437836-48437844 chr8:48437540-48437553 chr8:48437540-48437553
33	POLR2A	chr8:48436744-48437933	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr8:48436654-48437987	MCF10A-Er-Src	breast:	n/a	n/a
35	NR3C1	chr8:48437518-48437892	A549	lung:	n/a	n/a
36	JUND	chr8:48437217-48437985	HepG2	liver:	n/a	chr8:48437798-48437808 chr8:48437798-48437808 chr8:48437798-48437808
37	EP300	chr8:48436969-48438116	A549	lung:	n/a	chr8:48437593-48437602 chr8:48437569-48437576
38	FOS	chr8:48437383-48437934	MCF10A-Er-Src	breast:	n/a	chr8:48437798-48437808 chr8:48437798-48437808 chr8:48437798-48437808
39	NR3C1	chr8:48437376-48437933	A549	lung:	n/a	n/a
40	REST	chr8:48437516-48437849	HepG2	liver:	n/a	n/a
41	EP300	chr8:48437422-48437911	SK-N-SH_RA	brain:	n/a	chr8:48437593-48437602 chr8:48437569-48437576
42	POLR2A	chr8:48436748-48437929	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr8:48436471-48438134	MCF10A-Er-Src	breast:	n/a	chr8:48437697-48437705 chr8:48437976-48437987 chr8:48437654-48437665 chr8:48437518-48437525
44	EP300	chr8:48437344-48438055	A549	lung:	n/a	chr8:48437593-48437602 chr8:48437569-48437576
45	NFIC	chr8:48437350-48437983	HepG2	liver:	n/a	chr8:48437680-48437708
46	GATA3	chr8:48437290-48438068	A549	lung:	n/a	n/a
47	NR3C1	chr8:48437450-48437874	A549	lung:	n/a	n/a
48	NR3C1	chr8:48437362-48437947	A549	lung:	n/a	n/a
49	RXRA	chr8:48437508-48437921	HepG2	liver:	n/a	chr8:48437820-48437834
50	NFIC	chr8:48437118-48437970	SK-N-SH	brain:	n/a	chr8:48437680-48437708

No.	Distal block	Cell Line	Cell type
1	chr8:48424864..48427564-chr8:48437009..48439123,4	MCF-7	breast:
2	chr8:48436683..48438383-chr8:48633840..48636736,2	MCF-7	breast:
3	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
4	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:
5	chr8:48435448..48437603-chr8:48438806..48441568,2	K562	blood:
6	chr8:48425055..48429090-chr8:48432986..48438786,8	MCF-7	breast:
7	chr8:48430927..48433174-chr8:48436968..48438708,2	K562	blood:

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10110402	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2632496	1.00[GIH][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes]
rs4391434	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap]
rs57914950	0.97[EUR][1000 genomes]
rs6473187	1.00[GIH][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs6473889	0.97[EUR][1000 genomes]
rs6987282	1.00[GIH][hapmap];0.90[TSI][hapmap]
rs7004819	1.00[AFR][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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48424400-48438800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:48428200-48439800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:48432600-48439800	Enhancers	Fetal Lung	lung
4	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
5	chr8:48434200-48439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:48434200-48440000	Enhancers	Fetal Muscle Leg	muscle
7	chr8:48434400-48437600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:48434400-48439800	Enhancers	Placenta	Placenta
9	chr8:48434400-48439800	Enhancers	Stomach Mucosa	stomach
10	chr8:48434400-48440200	Enhancers	Duodenum Mucosa	Duodenum
11	chr8:48434400-48444400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:48434600-48440000	Enhancers	Brain Anterior Caudate	brain
13	chr8:48434600-48440000	Enhancers	Brain Hippocampus Middle	brain
14	chr8:48434600-48440400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:48434800-48438800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:48434800-48438800	Enhancers	NHDF-Ad	bronchial
17	chr8:48434800-48439200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:48434800-48439200	Enhancers	Hela-S3	cervix
19	chr8:48434800-48439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:48434800-48439800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:48434800-48440000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:48434800-48440000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:48434800-48440000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:48434800-48440200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:48434800-48440400	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:48434800-48440400	Enhancers	Fetal Intestine Large	intestine
27	chr8:48435000-48438000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:48435000-48439400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:48435000-48440000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:48435000-48440000	Enhancers	Fetal Intestine Small	intestine
31	chr8:48435000-48440000	Enhancers	Fetal Kidney	kidney
32	chr8:48435000-48440200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:48435200-48438200	Weak transcription	Ovary	ovary
34	chr8:48435200-48440200	Enhancers	Primary B cells from cord blood	blood
35	chr8:48435400-48438400	Enhancers	Fetal Muscle Trunk	muscle
36	chr8:48435400-48439600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:48435800-48437800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr8:48435800-48438000	Enhancers	HSMMtube	muscle
39	chr8:48435800-48438800	Enhancers	Brain Angular Gyrus	brain
40	chr8:48435800-48439400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:48435800-48439600	Enhancers	Fetal Thymus	thymus
42	chr8:48435800-48439800	Enhancers	Fetal Stomach	stomach
43	chr8:48435800-48439800	Enhancers	Psoas Muscle	Psoas
44	chr8:48435800-48440200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:48435800-48440400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:48436000-48437600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:48436000-48438200	Enhancers	HMEC	breast
48	chr8:48436000-48439400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr8:48436000-48440000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:48436200-48438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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