Variant report

Variant	rs2912043
Chromosome Location	chr8:6566815-6566816
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	STAT5A	chr8:6565085-6567738	GM12878	blood:	n/a	chr8:6565688-6565700 chr8:6565208-6565215
2	POLR2A	chr8:6565241-6566902	GM15510	blood:	n/a	n/a
3	MYC	chr8:6565655-6567549	MCF10A-Er-Src	breast:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
4	MXI1	chr8:6565285-6566879	HepG2	liver:	n/a	n/a
5	STAT5A	chr8:6566640-6567648	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:6563393-6568475	GM18505	blood:	n/a	n/a
7	GATA1	chr8:6565217-6567957	PBDE	blood:	n/a	n/a
8	ATF2	chr8:6564823-6567769	GM12878	blood:	n/a	n/a
9	TCF12	chr8:6565183-6566852	A549	lung:	n/a	chr8:6566482-6566489
10	PML	chr8:6564863-6568603	GM12878	blood:	n/a	n/a
11	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
12	POLR2A	chr8:6565160-6567838	GM19193	blood:	n/a	n/a
13	TAF1	chr8:6565201-6566917	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:6565148-6566945	GM19099	blood:	n/a	n/a
15	MAX	chr8:6565188-6566969	ECC-1	luminal epithelium:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
16	E2F6	chr8:6565305-6566960	K562	blood:	n/a	chr8:6566106-6566115 chr8:6565850-6565859 chr8:6566455-6566464 chr8:6565694-6565706 chr8:6565798-6565807 chr8:6566471-6566480 chr8:6566144-6566153
17	POLR2A	chr8:6565468-6566923	IMR90	lung:	n/a	n/a
18	CHD2	chr8:6565454-6566966	H1-hESC	embryonic stem cell:	n/a	chr8:6566145-6566155
19	SP1	chr8:6565178-6566931	HCT-116	colon:	n/a	chr8:6566647-6566656 chr8:6566646-6566655 chr8:6565797-6565818 chr8:6565849-6565870 chr8:6566646-6566655 chr8:6566639-6566646 chr8:6566646-6566660
20	RFX5	chr8:6566646-6566846	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr8:6565232-6566989	GM12878	blood:	n/a	n/a
22	TAF1	chr8:6565467-6566913	GM12891	blood:	n/a	n/a
23	POLR2A	chr8:6565179-6567482	GM12878	blood:	n/a	n/a
24	TBP	chr8:6565236-6566890	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr8:6565247-6566919	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr8:6565538-6566949	A549	lung:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
27	TAF1	chr8:6565182-6566893	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF12	chr8:6565192-6566933	ECC-1	luminal epithelium:	n/a	chr8:6566482-6566489
29	POLR2A	chr8:6565323-6566832	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:6565182-6566928	Hela-S3	cervix:	n/a	n/a
31	SIN3AK20	chr8:6565828-6567017	K562	blood:	n/a	n/a
32	BCLAF1	chr8:6565170-6566990	GM12878	blood:	n/a	chr8:6565887-6565900 chr8:6566647-6566660 chr8:6566634-6566643 chr8:6565982-6565995
33	RELA	chr8:6565198-6566939	GM12891	blood:	n/a	n/a
34	POLR2A	chr8:6565250-6566969	HL-60	blood:	n/a	n/a
35	POLR2A	chr8:6565288-6566941	K562	blood:	n/a	n/a
36	POLR2A	chr8:6564880-6568149	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:6565059-6566981	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr8:6565042-6567643	GM12892	blood:	n/a	n/a
39	TAF1	chr8:6566400-6566875	Hela-S3	cervix:	n/a	n/a
40	IRF1	chr8:6564978-6567455	K562	blood:	n/a	chr8:6566643-6566657 chr8:6567173-6567187 chr8:6566106-6566115 chr8:6565798-6565807 chr8:6567172-6567184 chr8:6566856-6566868
41	MAX	chr8:6565570-6566863	HUVEC	blood vessel:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
42	POLR2A	chr8:6565215-6566914	K562	blood:	n/a	n/a
43	POLR2A	chr8:6565297-6567232	MCF10A-Er-Src	breast:	n/a	n/a
44	MAZ	chr8:6565055-6566911	K562	blood:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
45	POLR2A	chr8:6565187-6566935	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr8:6565198-6567004	GM18526	blood:	n/a	n/a
47	HEY1	chr8:6566389-6566886	HepG2	liver:	n/a	chr8:6566528-6566537
48	REST	chr8:6565305-6566855	ECC-1	luminal epithelium:	n/a	chr8:6565707-6565720 chr8:6566421-6566431 chr8:6566517-6566530 chr8:6565707-6565720 chr8:6565733-6565746 chr8:6565985-6565995
49	POLR2A	chr8:6564875-6568226	GM12892	blood:	n/a	n/a
50	E2F6	chr8:6565258-6566844	H1-hESC	embryonic stem cell:	n/a	chr8:6566106-6566115 chr8:6565850-6565859 chr8:6566455-6566464 chr8:6565694-6565706 chr8:6565798-6565807 chr8:6566471-6566480 chr8:6566144-6566153

No.	Distal block	Cell Line	Cell type
1	chr8:6262444..6265412-chr8:6565205..6567179,2	K562	blood:
2	chr8:6285374..6287527-chr8:6566715..6569546,2	K562	blood:
3	chr8:6263912..6265972-chr8:6565205..6568456,4	K562	blood:
4	chr8:6565037..6567895-chr8:6594661..6596413,3	K562	blood:
5	chr7:100033528..100034221-chr8:6566670..6567368,2	Hela-S3	cervix:
6	chr8:6564149..6568070-chr8:6601682..6607895,12	K562	blood:
7	chr8:6262974..6265715-chr8:6564962..6567789,4	MCF-7	breast:
8	chr8:6566710..6569259-chr8:6614504..6616089,2	K562	blood:
9	chr8:6566568..6569324-chr8:6619809..6622501,2	K562	blood:
10	chr8:6564149..6568457-chr8:6601682..6605924,8	K562	blood:
11	chr8:6565847..6566842-chr8:30890895..30891662,2	Hela-S3	cervix:
12	chr11:62607824..62609645-chr8:6566131..6568713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249898	TF binding region
ENSG00000147316	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000155189	Chromatin interaction
ENSG00000172733	Chromatin interaction
ENSG00000246089	Chromatin interaction
ENSG00000266038	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000165392	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1121184	0.81[AFR][1000 genomes]
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	0.93[AFR][1000 genomes];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]
rs2408445	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2911973	0.89[AFR][1000 genomes];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]
rs2912049	0.93[AFR][1000 genomes]
rs2928615	0.93[AFR][1000 genomes]
rs2928620	0.85[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]
rs2936503	0.85[AFR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6564000-6567400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:6564000-6567600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:6564000-6568400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:6564400-6567000	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr8:6564400-6567200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:6564400-6567800	Active TSS	HepG2	liver
7	chr8:6564400-6568000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:6564600-6567200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:6564600-6567200	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr8:6564600-6567200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:6564600-6567400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:6564600-6567400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr8:6564600-6567600	Active TSS	Fetal Intestine Small	intestine
14	chr8:6564600-6567600	Active TSS	A549	lung
15	chr8:6564600-6567800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr8:6564600-6567800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:6564600-6568200	Active TSS	HMEC	breast
18	chr8:6564600-6568800	Active TSS	GM12878-XiMat	blood
19	chr8:6564800-6567200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:6564800-6567200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:6564800-6567200	Active TSS	Fetal Intestine Large	intestine
22	chr8:6564800-6567200	Active TSS	NHDF-Ad	bronchial
23	chr8:6564800-6567200	Active TSS	NHEK	skin
24	chr8:6564800-6567400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:6564800-6567800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:6564800-6567800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr8:6564800-6568000	Active TSS	Thymus	Thymus
28	chr8:6564800-6568200	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:6564800-6568600	Active TSS	K562	blood
30	chr8:6565000-6567000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:6565000-6567000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr8:6565000-6567000	Active TSS	Right Ventricle	heart
33	chr8:6565000-6567200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr8:6565000-6567200	Active TSS	Fetal Thymus	thymus
35	chr8:6565000-6567400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr8:6565000-6567400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:6565000-6567400	Active TSS	Fetal Kidney	kidney
38	chr8:6565000-6567600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:6565000-6567600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:6565000-6567600	Active TSS	HSMM	muscle
41	chr8:6565000-6567600	Active TSS	HSMMtube	muscle
42	chr8:6565000-6568000	Active TSS	Fetal Muscle Leg	muscle
43	chr8:6565000-6568000	Active TSS	Placenta	Placenta
44	chr8:6565200-6567000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:6565200-6567000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:6565200-6567000	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr8:6565200-6567000	Active TSS	Aorta	Aorta
48	chr8:6565200-6567000	Active TSS	Colon Smooth Muscle	Colon
49	chr8:6565200-6567000	Active TSS	Esophagus	oesophagus
50	chr8:6565200-6567000	Active TSS	Fetal Brain Male	brain

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