Variant report

Variant	rs2408445
Chromosome Location	chr8:6567707-6567708
allele	A/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	STAT5A	chr8:6565085-6567738	GM12878	blood:	n/a	chr8:6565688-6565700 chr8:6565208-6565215
2	POLR2A	chr8:6563393-6568475	GM18505	blood:	n/a	n/a
3	POLR2A	chr8:6567081-6568106	GM12878	blood:	n/a	n/a
4	GATA1	chr8:6565217-6567957	PBDE	blood:	n/a	n/a
5	ATF2	chr8:6564823-6567769	GM12878	blood:	n/a	n/a
6	PML	chr8:6564863-6568603	GM12878	blood:	n/a	n/a
7	IRF1	chr8:6565125-6567726	K562	blood:	n/a	chr8:6566643-6566657 chr8:6567173-6567187 chr8:6566106-6566115 chr8:6565798-6565807 chr8:6567172-6567184 chr8:6566856-6566868
8	POLR2A	chr8:6565160-6567838	GM19193	blood:	n/a	n/a
9	POLR2A	chr8:6564880-6568149	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:6564875-6568226	GM12892	blood:	n/a	n/a
11	MTA3	chr8:6566084-6568380	GM12878	blood:	n/a	n/a
12	NFE2	chr8:6567637-6567753	GM12878	blood:	n/a	n/a
13	EP300	chr8:6566485-6567750	K562	blood:	n/a	chr8:6567235-6567249 chr8:6567420-6567434
14	CCNT2	chr8:6567326-6567906	K562	blood:	n/a	n/a
15	BCLAF1	chr8:6565082-6568240	GM12878	blood:	n/a	chr8:6565887-6565900 chr8:6566647-6566660 chr8:6566634-6566643 chr8:6565982-6565995
16	POLR2A	chr8:6567654-6568037	GM12892	blood:	n/a	n/a
17	POLR2A	chr8:6563528-6568801	GM12878	blood:	n/a	n/a
18	TBL1XR1	chr8:6565538-6567782	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:6567046-6568035	GM12891	blood:	n/a	n/a
20	CHD1	chr8:6565011-6568398	GM12878	blood:	n/a	chr8:6566145-6566155
21	POLR2A	chr8:6565110-6567799	PBDE	blood:	n/a	n/a
22	BHLHE40	chr8:6565147-6567748	GM12878	blood:	n/a	chr8:6566447-6566463 chr8:6566528-6566537 chr8:6566528-6566537 chr8:6565732-6565748
23	NFATC1	chr8:6566060-6568043	GM12878	blood:	n/a	n/a
24	MXI1	chr8:6564946-6567978	GM12878	blood:	n/a	n/a
25	NFIC	chr8:6567027-6568194	GM12878	blood:	n/a	n/a
26	RUNX3	chr8:6565184-6567759	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:6567098-6567874	GM12891	blood:	n/a	n/a
28	POLR2A	chr8:6564876-6568038	GM12891	blood:	n/a	n/a
29	POLR2A	chr8:6564879-6568112	GM12892	blood:	n/a	n/a
30	E2F4	chr8:6567390-6567748	MCF10A-Er-Src	breast:	n/a	n/a
31	NFATC1	chr8:6567043-6568536	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:6563320-6569676	GM12878	blood:	n/a	n/a
33	MYC	chr8:6565452-6567754	MCF10A-Er-Src	breast:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6567589-6567598 chr8:6566528-6566537 chr8:6566527-6566538
34	EP300	chr8:6566271-6567886	GM12878	blood:	n/a	chr8:6567235-6567249 chr8:6567420-6567434
35	POLR2A	chr8:6559898-6568153	GM12892	blood:	n/a	n/a
36	POLR2A	chr8:6563304-6568497	GM12891	blood:	n/a	n/a
37	MYC	chr8:6565224-6567762	K562	blood:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6567589-6567598 chr8:6566528-6566537 chr8:6566527-6566538
38	ZNF384	chr8:6567087-6567736	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:6285374..6287527-chr8:6566715..6569546,2	K562	blood:
2	chr8:6263912..6265972-chr8:6565205..6568456,4	K562	blood:
3	chr8:6565037..6567895-chr8:6594661..6596413,3	K562	blood:
4	chr8:6567182..6570049-chr8:6639193..6642155,2	K562	blood:
5	chr8:6564149..6568070-chr8:6601682..6607895,12	K562	blood:
6	chr8:6262974..6265715-chr8:6564962..6567789,4	MCF-7	breast:
7	chr8:6566710..6569259-chr8:6614504..6616089,2	K562	blood:
8	chr8:6566568..6569324-chr8:6619809..6622501,2	K562	blood:
9	chr8:6564149..6568457-chr8:6601682..6605924,8	K562	blood:
10	chr11:62607824..62609645-chr8:6566131..6568713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249898	TF binding region
ENSG00000246089	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000147316	Chromatin interaction
ENSG00000266038	Chromatin interaction
ENSG00000155189	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1425783	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1469268	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1542849	0.91[EUR][1000 genomes]
rs1559743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1559745	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17573820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2911973	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2911981	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2911984	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2912043	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2928620	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2928622	0.84[EUR][1000 genomes]
rs2928628	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2980687	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2980691	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs714508	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
10	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv1030637	chr8:6545498-6669949	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1034115	chr8:6546984-6665832	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 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	chr8:6564000-6568400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:6564400-6567800	Active TSS	HepG2	liver
3	chr8:6564400-6568000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:6564600-6567800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr8:6564600-6567800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:6564600-6568200	Active TSS	HMEC	breast
7	chr8:6564600-6568800	Active TSS	GM12878-XiMat	blood
8	chr8:6564800-6567800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:6564800-6567800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:6564800-6568000	Active TSS	Thymus	Thymus
11	chr8:6564800-6568200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr8:6564800-6568600	Active TSS	K562	blood
13	chr8:6565000-6568000	Active TSS	Fetal Muscle Leg	muscle
14	chr8:6565000-6568000	Active TSS	Placenta	Placenta
15	chr8:6565200-6567800	Active TSS	NHLF	lung
16	chr8:6565200-6568000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:6566200-6567800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr8:6566200-6568000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:6566200-6568200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr8:6566400-6568400	Flanking Active TSS	HUVEC	blood vessel
21	chr8:6566600-6568400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:6566600-6568400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:6566600-6568400	Active TSS	Brain Germinal Matrix	brain
24	chr8:6566800-6567800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:6566800-6567800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:6566800-6567800	Flanking Active TSS	Fetal Lung	lung
27	chr8:6566800-6568200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr8:6566800-6575800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:6566800-6575800	Weak transcription	Spleen	Spleen
30	chr8:6567000-6567800	Enhancers	Brain Substantia Nigra	brain
31	chr8:6567000-6569200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:6567000-6569200	Weak transcription	Esophagus	oesophagus
33	chr8:6567000-6569200	Weak transcription	Lung	lung
34	chr8:6567000-6571000	Weak transcription	Small Intestine	intestine
35	chr8:6567000-6575600	Weak transcription	Gastric	stomach
36	chr8:6567000-6578000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:6567000-6580200	Weak transcription	Right Ventricle	heart
38	chr8:6567200-6567800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr8:6567200-6567800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:6567200-6567800	Flanking Active TSS	NHEK	skin
41	chr8:6567200-6568000	Flanking Active TSS	NH-A	brain
42	chr8:6567200-6568400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr8:6567200-6569600	Transcr. at gene 5' and 3'	Dnd41	blood
44	chr8:6567400-6567800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr8:6567400-6567800	Enhancers	Brain Cingulate Gyrus	brain
46	chr8:6567400-6567800	Enhancers	NHDF-Ad	bronchial
47	chr8:6567400-6568000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:6567400-6568000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr8:6567400-6568000	Enhancers	Primary B cells from peripheral blood	blood
50	chr8:6567400-6568000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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