Variant report

Variant	rs11549151
Chromosome Location	chr8:11666384-11666385
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	POLR2A	chr8:11665380-11666439	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr8:11666260-11666410	SK-N-SH_RA	brain:	n/a	n/a
3	FOS	chr8:11666323-11666687	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr8:11666294-11666465	K562	blood:	n/a	n/a
5	SIN3AK20	chr8:11666314-11666713	PFSK-1	brain:	n/a	n/a
6	FOXA1	chr8:11666313-11666806	HepG2	liver:	n/a	chr8:11666537-11666552
7	POLR2A	chr8:11664775-11666889	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr8:11666300-11666450	AG10803	skin:	n/a	n/a
9	POLR2A	chr8:11665396-11666911	PBDE	blood:	n/a	n/a
10	POLR2A	chr8:11664843-11666654	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr8:11666282-11666887	HepG2	liver:	n/a	n/a
12	TBL1XR1	chr8:11666352-11666589	K562	blood:	n/a	n/a
13	FOXA2	chr8:11666326-11666804	A549	lung:	n/a	n/a
14	POLR2A	chr8:11665299-11666403	H1-hESC	embryonic stem cell:	n/a	n/a
15	FOXA1	chr8:11666223-11666802	HepG2	liver:	n/a	chr8:11666537-11666552
16	FOXA1	chr8:11666380-11666745	T-47D	breast:	n/a	chr8:11666537-11666552
17	FOXA2	chr8:11666174-11666781	A549	lung:	n/a	n/a
18	ARID3A	chr8:11666175-11666691	HepG2	liver:	n/a	n/a
19	MAX	chr8:11665583-11666571	A549	lung:	n/a	n/a
20	POLR2A	chr8:11665379-11666492	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr8:11665101-11666490	HepG2	liver:	n/a	n/a
22	HEY1	chr8:11664935-11666824	HepG2	liver:	n/a	chr8:11665851-11665866
23	MXI1	chr8:11665346-11666710	HepG2	liver:	n/a	n/a
24	POLR2A	chr8:11665410-11666524	HepG2	liver:	n/a	n/a
25	HDAC2	chr8:11666350-11666734	HepG2	liver:	n/a	chr8:11666542-11666551
26	EP300	chr8:11666235-11666468	HepG2	liver:	n/a	n/a
27	RFX5	chr8:11666171-11666434	HepG2	liver:	n/a	n/a
28	MYBL2	chr8:11666227-11666753	HepG2	liver:	n/a	n/a
29	POLR2A	chr8:11665392-11666606	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr8:11666110-11666702	HL-60	blood:	n/a	n/a
31	MAZ	chr8:11665275-11666823	IMR90	lung:	n/a	chr8:11666615-11666625
32	POLR2A	chr8:11665581-11666609	HL-60	blood:	n/a	n/a
33	TBP	chr8:11666248-11666446	HepG2	liver:	n/a	n/a
34	CTCF	chr8:11666320-11666470	HAc	cerebellar:	n/a	n/a
35	CTCF	chr8:11666280-11666430	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr8:11666282-11666586	HepG2	liver:	n/a	n/a
37	BACH1	chr8:11666079-11666400	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr8:11665240-11666635	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr8:11659475-11672720	K562	blood:	n/a	n/a
40	FOXA1	chr8:11666245-11666850	HepG2	liver:	n/a	chr8:11666537-11666552
41	HDAC2	chr8:11666198-11666509	K562	blood:	n/a	n/a
42	SIN3AK20	chr8:11666154-11666946	MCF-7	breast:	n/a	n/a
43	MXI1	chr8:11664826-11667052	SK-N-SH	brain:	n/a	n/a
44	MYC	chr8:11666319-11666772	MCF10A-Er-Src	breast:	n/a	chr8:11666615-11666625
45	POLR2A	chr8:11666210-11666704	HepG2	liver:	n/a	n/a
46	KAP1	chr8:11666154-11666846	HEK293	kidney:	n/a	n/a
47	SIN3A	chr8:11665320-11666645	H1-hESC	embryonic stem cell:	n/a	chr8:11666073-11666087
48	TEAD4	chr8:11666034-11666560	K562	blood:	n/a	n/a
49	NFIC	chr8:11666333-11666713	HepG2	liver:	n/a	n/a
50	REST	chr8:11664977-11666433	H1-neurons	neurons:	n/a	chr8:11666074-11666088 chr8:11666042-11666062

No.	Distal block	Cell Line	Cell type
1	chr8:11658127..11661675-chr8:11664375..11667732,3	K562	blood:
2	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
3	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
4	chr8:11663695..11667740-chr8:11686501..11689379,3	MCF-7	breast:
5	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
6	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:

Variant related genes	Relation type
FDFT1	TF binding region
ENSG00000164733	Chromatin interaction
ENSG00000154328	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000255046	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17153768	1.00[AMR][1000 genomes]
rs58320142	1.00[AMR][1000 genomes]
rs58944111	1.00[AMR][1000 genomes]
rs7008652	1.00[AMR][1000 genomes]
rs73535994	1.00[AMR][1000 genomes]
rs73537897	1.00[AMR][1000 genomes]
rs73539813	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS 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	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 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	chr8:11658400-11666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11660400-11668200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr8:11661000-11667200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:11662600-11667000	Transcr. at gene 5' and 3'	NHEK	skin
7	chr8:11664200-11669000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:11664600-11666600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr8:11664800-11666800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:11664800-11667000	Weak transcription	Hela-S3	cervix
11	chr8:11665000-11666400	Active TSS	Brain Germinal Matrix	brain
12	chr8:11665000-11667000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr8:11665000-11667200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr8:11665200-11666600	Active TSS	NHDF-Ad	bronchial
15	chr8:11665200-11666800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:11665200-11667000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:11665200-11667200	Active TSS	Ovary	ovary
18	chr8:11665400-11666400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:11665400-11666400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr8:11665400-11666400	Active TSS	Small Intestine	intestine
21	chr8:11665400-11666600	Active TSS	Lung	lung
22	chr8:11665400-11666600	Active TSS	A549	lung
23	chr8:11665400-11666800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr8:11665400-11666800	Active TSS	Psoas Muscle	Psoas
25	chr8:11665400-11667000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr8:11665400-11667000	Active TSS	Fetal Brain Female	brain
27	chr8:11665400-11667200	Active TSS	Brain Anterior Caudate	brain
28	chr8:11665400-11667200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:11665600-11666400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:11665600-11666400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:11665600-11666400	Active TSS	Primary T cells from cord blood	blood
32	chr8:11665600-11666400	Active TSS	Fetal Intestine Small	intestine
33	chr8:11665600-11666600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:11665600-11666600	Active TSS	Brain Hippocampus Middle	brain
35	chr8:11665600-11666600	Active TSS	Esophagus	oesophagus
36	chr8:11665600-11666600	Active TSS	Fetal Kidney	kidney
37	chr8:11665600-11666600	Active TSS	Gastric	stomach
38	chr8:11665600-11666600	Active TSS	Pancreas	Pancrea
39	chr8:11665600-11666600	Active TSS	Stomach Mucosa	stomach
40	chr8:11665600-11666600	Active TSS	GM12878-XiMat	blood
41	chr8:11665600-11666800	Active TSS	Fetal Intestine Large	intestine
42	chr8:11665600-11666800	Active TSS	Fetal Stomach	stomach
43	chr8:11665600-11666800	Active TSS	HSMMtube	muscle
44	chr8:11665600-11667000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:11665600-11667000	Active TSS	Aorta	Aorta
46	chr8:11665600-11667200	Active TSS	Brain Cingulate Gyrus	brain
47	chr8:11665600-11667200	Active TSS	Brain Substantia Nigra	brain
48	chr8:11665600-11667200	Active TSS	Colon Smooth Muscle	Colon
49	chr8:11665600-11667200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr8:11665600-11667200	Active TSS	Left Ventricle	heart

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