Variant report

Variant	rs543246437
Chromosome Location	chr8:11755153-11755154
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	IRF4	chr8:11754544-11755249	GM12878	blood:	n/a	n/a
2	SMC3	chr8:11754433-11755596	GM12878	blood:	n/a	n/a
3	BCL3	chr8:11754724-11755297	GM12878	blood:	n/a	chr8:11754779-11754792 chr8:11754784-11754793 chr8:11754786-11754799
4	EBF1	chr8:11754645-11755743	GM12878	blood:	n/a	n/a
5	EBF1	chr8:11754553-11755424	GM12878	blood:	n/a	n/a
6	NFATC1	chr8:11754604-11755511	GM12878	blood:	n/a	n/a
7	MXI1	chr8:11754548-11755162	HepG2	liver:	n/a	n/a
8	PML	chr8:11754412-11755687	GM12878	blood:	n/a	n/a
9	NFIC	chr8:11754315-11755806	GM12878	blood:	n/a	chr8:11754909-11754937
10	RELA	chr8:11754446-11755698	GM19193	blood:	n/a	n/a
11	MYBL2	chr8:11754433-11755166	HepG2	liver:	n/a	n/a
12	POLR2A	chr8:11754510-11755184	GM12878	blood:	n/a	n/a
13	CEBPB	chr8:11754451-11755783	GM12878	blood:	n/a	n/a
14	SPI1	chr8:11754539-11755203	GM12878	blood:	n/a	chr8:11754925-11754932
15	SPI1	chr8:11754579-11755154	GM12891	blood:	n/a	chr8:11754925-11754932
16	NFATC1	chr8:11754483-11755674	GM12878	blood:	n/a	n/a
17	MEF2A	chr8:11754676-11755405	GM12878	blood:	n/a	chr8:11755115-11755129
18	MAFK	chr8:11754812-11755162	HepG2	liver:	n/a	n/a
19	EP300	chr8:11754415-11755671	GM12878	blood:	n/a	chr8:11754711-11754721 chr8:11754640-11754654
20	YY1	chr8:11754764-11755216	GM12891	blood:	n/a	chr8:11754783-11754792
21	EBF1	chr8:11754528-11755651	GM12878	blood:	n/a	n/a
22	MAZ	chr8:11754371-11755650	GM12878	blood:	n/a	n/a
23	MEF2A	chr8:11754611-11755373	GM12878	blood:	n/a	chr8:11755115-11755129
24	HNF4G	chr8:11754556-11755190	HepG2	liver:	n/a	n/a
25	YY1	chr8:11754303-11755196	GM12878	blood:	n/a	chr8:11754539-11754547 chr8:11754536-11754558 chr8:11754783-11754792
26	CEBPB	chr8:11754816-11755222	HepG2	liver:	n/a	n/a
27	JUND	chr8:11754106-11755806	GM12878	blood:	n/a	chr8:11754782-11754791
28	CREB1	chr8:11754550-11755274	GM12878	blood:	n/a	n/a
29	EP300	chr8:11754590-11755321	HepG2	liver:	n/a	chr8:11754711-11754721 chr8:11754640-11754654
30	HEY1	chr8:11754527-11755192	HepG2	liver:	n/a	n/a
31	CHD2	chr8:11754507-11755564	GM12878	blood:	n/a	chr8:11754789-11754799
32	BATF	chr8:11754746-11755153	GM12878	blood:	n/a	n/a
33	MAX	chr8:11754386-11755297	HepG2	liver:	n/a	chr8:11754978-11754988
34	EP300	chr8:11754461-11755670	GM12878	blood:	n/a	chr8:11754711-11754721 chr8:11754640-11754654
35	ZNF384	chr8:11754424-11755153	GM12878	blood:	n/a	n/a
36	SPI1	chr8:11754410-11755950	GM12878	blood:	n/a	chr8:11754925-11754932
37	STAT5A	chr8:11754432-11755261	GM12878	blood:	n/a	chr8:11754904-11754915 chr8:11754784-11754796 chr8:11755163-11755170
38	ZNF143	chr8:11754432-11755772	GM12878	blood:	n/a	chr8:11754775-11754793 chr8:11754455-11754474
39	BCL11A	chr8:11754571-11755235	GM12878	blood:	n/a	chr8:11754779-11754792 chr8:11754784-11754793 chr8:11754786-11754799
40	STAT5A	chr8:11754276-11755587	GM12878	blood:	n/a	chr8:11754904-11754915 chr8:11754784-11754796 chr8:11755163-11755170
41	RELA	chr8:11754345-11755851	GM10847	blood:	n/a	n/a
42	SPI1	chr8:11754630-11755166	GM12891	blood:	n/a	chr8:11754925-11754932
43	RFX5	chr8:11754538-11755757	GM12878	blood:	n/a	n/a
44	SP1	chr8:11754454-11755284	GM12878	blood:	n/a	chr8:11754783-11754793 chr8:11754782-11754794 chr8:11754783-11754792 chr8:11754782-11754794 chr8:11754779-11754793 chr8:11754784-11754793
45	NRF1	chr8:11754785-11755563	GM12878	blood:	n/a	n/a
46	SP1	chr8:11754454-11755320	GM12878	blood:	n/a	chr8:11754783-11754793 chr8:11754782-11754794 chr8:11754783-11754792 chr8:11754782-11754794 chr8:11754779-11754793 chr8:11754784-11754793
47	RELA	chr8:11754337-11755607	GM19099	blood:	n/a	n/a
48	BHLHE40	chr8:11754703-11755212	HepG2	liver:	n/a	chr8:11754786-11754802
49	BATF	chr8:11754598-11755318	GM12878	blood:	n/a	n/a
50	PAX5	chr8:11754791-11755297	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11718857..11721432-chr8:11753489..11755957,2	K562	blood:
2	chr8:11718467..11721222-chr8:11754378..11756104,3	K562	blood:
3	chr8:11746436..11748896-chr8:11754900..11757322,2	K562	blood:

Variant related genes	Relation type
ENSG00000255144	TF binding region
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	20 gene(s)	inside rSNPs	diseases
12	nsv1031158	chr8:11666558-11759064	Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv539477	chr8:11666558-11759064	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv890367	chr8:11668153-11793529	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv890369	chr8:11671041-11840011	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv1016952	chr8:11679271-11849955	Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1029093	chr8:11679271-11858466	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv539478	chr8:11679271-11858466	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv1031972	chr8:11696393-11805961	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv539481	chr8:11696393-11805961	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv610293	chr8:11698747-11929734	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
23	nsv516685	chr8:11698747-12570199	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
24	nsv1032736	chr8:11727357-11762693	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv1029694	chr8:11727357-11858466	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	esv2758148	chr8:11741558-12567301	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
27	nsv427815	chr8:11741558-12567301	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
28	nsv428195	chr8:11741558-12567301	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
29	esv2759593	chr8:11741558-12601971	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
30	nsv1029934	chr8:11747133-11858466	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
31	nsv1016332	chr8:11751798-11861797	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
32	nsv1016544	chr8:11754663-11849955	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
33	nsv539482	chr8:11754663-11849955	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11738000-11755800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11745800-11759600	Weak transcription	Right Atrium	heart
3	chr8:11748000-11755400	Weak transcription	Spleen	Spleen
4	chr8:11749800-11759400	Weak transcription	NHEK	skin
5	chr8:11753400-11756400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:11753600-11756800	Enhancers	Primary B cells from cord blood	blood
7	chr8:11754000-11756200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:11754200-11755400	Flanking Active TSS	HepG2	liver
9	chr8:11754200-11755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:11754200-11755800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:11754200-11756200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:11754200-11756200	Flanking Active TSS	GM12878-XiMat	blood
13	chr8:11754400-11755200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:11754400-11755200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:11754400-11755200	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr8:11754400-11755200	Enhancers	Stomach Mucosa	stomach
17	chr8:11754400-11755200	Enhancers	A549	lung
18	chr8:11754400-11755600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:11754400-11755600	Enhancers	NH-A	brain
20	chr8:11754400-11755800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:11754400-11756000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:11754400-11756000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:11754400-11756000	Enhancers	NHDF-Ad	bronchial
24	chr8:11754400-11756200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:11754400-11756600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:11754600-11755200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr8:11754600-11755200	Enhancers	Left Ventricle	heart
28	chr8:11754600-11755400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:11754600-11755400	Enhancers	Fetal Thymus	thymus
30	chr8:11754600-11755600	Enhancers	Fetal Kidney	kidney
31	chr8:11754600-11755800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:11754600-11756000	Enhancers	Placenta	Placenta
33	chr8:11754600-11756200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:11754800-11755400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:11754800-11755600	Enhancers	NHLF	lung
36	chr8:11754800-11756000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:11754800-11756000	Enhancers	Fetal Intestine Small	intestine
38	chr8:11754800-11756800	Enhancers	Fetal Intestine Large	intestine
39	chr8:11754800-11759600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:11755000-11755400	Enhancers	HMEC	breast
41	chr8:11755000-11755600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:11755000-11755600	Flanking Active TSS	Liver	Liver
43	chr8:11755000-11755800	Enhancers	Osteobl	bone
44	chr8:11755000-11756000	Enhancers	K562	blood
45	chr8:11755000-11756200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr8:11755000-11756800	Enhancers	Primary B cells from peripheral blood	blood
47	chr8:11755000-11757000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:11755000-11759000	Weak transcription	Ovary	ovary
49	chr8:11755000-11759600	Weak transcription	Esophagus	oesophagus
50	chr8:11755000-11759600	Weak transcription	Pancreas	Pancrea

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