Variant report

Variant	rs3134294
Chromosome Location	chr8:104426798-104426799
allele	A/C
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	MAX	chr8:104426414-104428358	HCT-116	colon:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
2	POLR2A	chr8:104426720-104427906	K562	blood:	n/a	n/a
3	SPI1	chr8:104426690-104427056	GM12891	blood:	n/a	n/a
4	SP1	chr8:104426523-104428188	HCT-116	colon:	n/a	n/a
5	YY1	chr8:104426726-104427825	GM12892	blood:	n/a	n/a
6	YY1	chr8:104426729-104427905	A549	lung:	n/a	n/a
7	POLR2A	chr8:104426683-104428052	H1-neurons	neurons:	n/a	n/a
8	CHD2	chr8:104426708-104428152	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:104426639-104427879	GM12878	blood:	n/a	n/a
10	MYC	chr8:104426486-104428473	NB4	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
11	POLR2A	chr8:104426712-104428105	ProgFib	skin:	n/a	n/a
12	TBP	chr8:104426503-104428068	GM12878	blood:	n/a	n/a
13	UBTF	chr8:104426738-104427717	K562	blood:	n/a	n/a
14	POLR2A	chr8:104426785-104427930	Gliobla	brain:	n/a	n/a
15	EP300	chr8:104426331-104427932	K562	blood:	n/a	chr8:104426449-104426463
16	RCOR1	chr8:104426610-104428894	K562	blood:	n/a	n/a
17	ELF1	chr8:104426645-104428053	MCF-7	breast:	n/a	chr8:104427951-104427962 chr8:104426865-104426876
18	ATF2	chr8:104426511-104427936	GM12878	blood:	n/a	n/a
19	PML	chr8:104426597-104427843	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:104426455-104427987	Hela-S3	cervix:	n/a	n/a
21	UBTF	chr8:104426673-104427871	K562	blood:	n/a	n/a
22	RELA	chr8:104426628-104428081	GM15510	blood:	n/a	n/a
23	POLR2A	chr8:104426433-104428920	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:104426536-104428009	PBDE	blood:	n/a	n/a
25	MAX	chr8:104426351-104428096	HepG2	liver:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
26	MAX	chr8:104426337-104428073	A549	lung:	n/a	chr8:104426634-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426631-104426646 chr8:104426634-104426644 chr8:104426633-104426646 chr8:104426635-104426644 chr8:104426634-104426643 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426648
27	MAX	chr8:104426343-104428332	ECC-1	luminal epithelium:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
28	MAX	chr8:104426459-104428082	GM12878	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
29	GTF2F1	chr8:104426669-104427802	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAL1	chr8:104426798-104427823	K562	blood:	n/a	n/a
31	POLR2A	chr8:104426548-104428191	K562	blood:	n/a	n/a
32	ELF1	chr8:104426758-104427997	SK-N-SH	brain:	n/a	chr8:104427951-104427962 chr8:104426865-104426876
33	POLR2A	chr8:104425420-104427990	MCF10A-Er-Src	breast:	n/a	n/a
34	RFX5	chr8:104426766-104427906	HepG2	liver:	n/a	n/a
35	USF1	chr8:104426473-104427020	K562	blood:	n/a	n/a
36	POU2F2	chr8:104426731-104427921	GM12891	blood:	n/a	n/a
37	TCF12	chr8:104426676-104428068	ECC-1	luminal epithelium:	n/a	n/a
38	MAX	chr8:104426441-104428354	NB4	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
39	YY1	chr8:104426648-104427896	GM12878	blood:	n/a	n/a
40	MYC	chr8:104426561-104428245	K562	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
41	BHLHE40	chr8:104426390-104427883	K562	blood:	n/a	n/a
42	CREB1	chr8:104426788-104427782	H1-hESC	embryonic stem cell:	n/a	n/a
43	USF1	chr8:104426495-104427004	A549	lung:	n/a	n/a
44	SIN3AK20	chr8:104426391-104428136	HCT-116	colon:	n/a	n/a
45	E2F6	chr8:104426784-104427833	A549	lung:	n/a	chr8:104427715-104427723
46	POLR2A	chr8:104426745-104427930	GM12878	blood:	n/a	n/a
47	SP1	chr8:104426550-104428051	A549	lung:	n/a	n/a
48	MXI1	chr8:104426486-104428205	H1-hESC	embryonic stem cell:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
49	MYC	chr8:104426777-104427875	MCF-7	breast:	n/a	n/a
50	USF1	chr8:104426375-104428080	HCT-116	colon:	n/a	chr8:104427560-104427571

No.	Distal block	Cell Line	Cell type
1	chr8:103423558..103425413-chr8:104426002..104428087,2	MCF-7	breast:
2	chr8:104310872..104313669-chr8:104425556..104428778,5	MCF-7	breast:
3	chr8:104032077..104034821-chr8:104426211..104427812,2	MCF-7	breast:
4	chr6:26156220..26156991-chr8:104426774..104427361,2	Hela-S3	cervix:
5	chr8:104292150..104293871-chr8:104425235..104426887,2	MCF-7	breast:
6	chr8:104383757..104385653-chr8:104425622..104427492,3	K562	blood:
7	chr8:103876345..103878103-chr8:104425943..104427544,2	K562	blood:
8	chr8:104384537..104387363-chr8:104425771..104427328,2	MCF-7	breast:
9	chr8:103874799..103876980-chr8:104425955..104427549,2	MCF-7	breast:
10	chr1:148241062..148242045-chr8:104426693..104427391,3	Hela-S3	cervix:
11	chr1:94344268..94345187-chr8:104426686..104427560,2	NB4	blood:
12	chr2:74153417..74154291-chr8:104426606..104427170,2	Hela-S3	cervix:
13	chr8:103875054..103878103-chr8:104425943..104429059,5	K562	blood:
14	chr8:104412488..104416313-chr8:104425793..104429036,7	MCF-7	breast:
15	chr8:104384521..104386453-chr8:104425627..104427344,2	K562	blood:
16	chr8:104308989..104311574-chr8:104426420..104428349,3	MCF-7	breast:
17	chr8:104426587..104428303-chr8:104493645..104496193,2	MCF-7	breast:
18	chr8:104382426..104384366-chr8:104426073..104428422,3	MCF-7	breast:
19	chr8:104424987..104428689-chr8:104510615..104514344,5	MCF-7	breast:

Variant related genes	Relation type
DCAF13	TF binding region
ENSG00000067334	Chromatin interaction
ENSG00000253477	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000176406	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000271830	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000207501	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17228576	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228841	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17803441	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2687356	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917546	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917547	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2917548	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098216	1.00[ASN][1000 genomes]
rs3098226	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098234	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098235	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098238	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098239	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133812	1.00[ASN][1000 genomes]
rs3134252	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134257	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134260	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134263	1.00[ASN][1000 genomes]
rs3134268	1.00[ASN][1000 genomes]
rs3134269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286089	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286092	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286095	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751725	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827589	0.83[AMR][1000 genomes]
rs827591	0.83[AMR][1000 genomes]
rs827594	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827600	0.88[AMR][1000 genomes];0.82[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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr8:104422800-104429600	Active TSS	GM12878-XiMat	blood
2	chr8:104423400-104429400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:104424600-104426800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr8:104424600-104428800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:104425400-104427000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:104425400-104429200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:104425600-104426800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr8:104425600-104428600	Active TSS	Psoas Muscle	Psoas
9	chr8:104425600-104428600	Active TSS	Right Ventricle	heart
10	chr8:104425600-104429000	Active TSS	Right Atrium	heart
11	chr8:104425600-104429200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:104425800-104427000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:104425800-104428600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:104425800-104428600	Active TSS	HSMMtube	muscle
15	chr8:104425800-104428600	Active TSS	NHDF-Ad	bronchial
16	chr8:104425800-104428800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:104425800-104428800	Active TSS	K562	blood
18	chr8:104425800-104429000	Active TSS	H1 Cell Line	embryonic stem cell
19	chr8:104425800-104429000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:104425800-104429000	Active TSS	HSMM	muscle
21	chr8:104425800-104429200	Active TSS	NHLF	lung
22	chr8:104426000-104426800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr8:104426000-104426800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr8:104426000-104426800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:104426000-104428000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr8:104426000-104428000	Active TSS	Stomach Smooth Muscle	stomach
27	chr8:104426000-104428200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr8:104426000-104428400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:104426000-104428400	Active TSS	Fetal Muscle Leg	muscle
30	chr8:104426000-104428400	Active TSS	Hela-S3	cervix
31	chr8:104426000-104428400	Active TSS	HMEC	breast
32	chr8:104426000-104428600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr8:104426000-104428600	Active TSS	Primary T cells fromperipheralblood	blood
34	chr8:104426000-104428600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:104426000-104428800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr8:104426000-104428800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:104426000-104429000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:104426000-104429200	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr8:104426000-104429200	Active TSS	A549	lung
40	chr8:104426200-104426800	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr8:104426200-104426800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr8:104426200-104426800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:104426200-104426800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr8:104426200-104426800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr8:104426200-104426800	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr8:104426200-104426800	Flanking Active TSS	Fetal Heart	heart
47	chr8:104426200-104426800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr8:104426200-104427000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr8:104426200-104428000	Active TSS	Rectal Smooth Muscle	rectum
50	chr8:104426200-104428200	Active TSS	Primary hematopoietic stem cells short term culture	blood

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