Variant report

Variant	rs2740449
Chromosome Location	chr8:11658131-11658132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr8:11657744-11658222	HepG2	liver:	n/a	n/a
2	ELF1	chr8:11657710-11658233	HepG2	liver:	n/a	n/a
3	SPI1	chr8:11657850-11658229	HL-60	blood:	n/a	n/a
4	IRF1	chr8:11658130-11658135	K562	blood:	n/a	n/a
5	POLR2A	chr8:11657155-11658248	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:11657712-11662103	GM12891	blood:	n/a	n/a
7	MYBL2	chr8:11657561-11658273	HepG2	liver:	n/a	n/a
8	TBP	chr8:11657794-11658265	GM12878	blood:	n/a	n/a
9	SPI1	chr8:11657872-11658243	GM12891	blood:	n/a	n/a
10	SPI1	chr8:11657953-11658211	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:11657732-11658212	HepG2	liver:	n/a	n/a
12	SP1	chr8:11657708-11658227	HepG2	liver:	n/a	n/a
13	NFIC	chr8:11657765-11658242	HepG2	liver:	n/a	n/a
14	POLR2A	chr8:11657731-11658244	HepG2	liver:	n/a	n/a
15	SPI1	chr8:11657943-11658186	GM12891	blood:	n/a	n/a
16	SPI1	chr8:11657993-11658191	K562	blood:	n/a	n/a
17	NFYB	chr8:11657787-11658140	GM12878	blood:	n/a	n/a
18	TBP	chr8:11657766-11658144	HepG2	liver:	n/a	n/a
19	HNF4G	chr8:11657942-11658192	HepG2	liver:	n/a	n/a
20	RXRA	chr8:11657790-11658238	HepG2	liver:	n/a	n/a
21	HEY1	chr8:11657674-11658284	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11652587..11657894-chr8:11658127..11661459,7	K562	blood:
2	chr8:11658127..11661675-chr8:11664375..11667732,3	K562	blood:

No data

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2645429	0.88[EUR][1000 genomes]
rs2686197	0.86[EUR][1000 genomes]
rs2686198	0.81[EUR][1000 genomes]
rs3824114	0.83[EUR][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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11636800-11659400	Weak transcription	Thymus	Thymus
2	chr8:11640800-11658600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:11641000-11659600	Weak transcription	Right Atrium	heart
4	chr8:11641200-11658400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:11641200-11659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:11643600-11658200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:11643800-11659400	Weak transcription	Brain Angular Gyrus	brain
8	chr8:11643800-11659600	Weak transcription	Aorta	Aorta
9	chr8:11644200-11658400	Weak transcription	Brain Germinal Matrix	brain
10	chr8:11644400-11659400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:11644600-11659400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:11644800-11659000	Weak transcription	Primary T cells from cord blood	blood
13	chr8:11645000-11658600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:11645600-11658200	Weak transcription	Primary B cells from cord blood	blood
15	chr8:11647400-11659400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:11647600-11659400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:11647600-11659400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:11648000-11658600	Weak transcription	Fetal Brain Female	brain
19	chr8:11652200-11658400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:11654000-11658400	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:11654200-11659400	Weak transcription	Fetal Lung	lung
22	chr8:11654400-11658600	Weak transcription	NHLF	lung
23	chr8:11654400-11659400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:11654600-11658600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:11654600-11659200	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:11654600-11659200	Weak transcription	HSMMtube	muscle
27	chr8:11654800-11658200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:11654800-11658400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:11654800-11658400	Enhancers	HepG2	liver
30	chr8:11654800-11658600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:11655000-11658200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:11655000-11658400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:11655000-11658600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:11655000-11658600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:11655000-11658600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:11655000-11659200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:11655000-11659400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:11655000-11659400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:11655000-11659400	Weak transcription	Osteobl	bone
40	chr8:11655400-11658200	Weak transcription	Fetal Thymus	thymus
41	chr8:11655400-11658400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:11655400-11658400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:11655400-11658400	Weak transcription	Colonic Mucosa	Colon
44	chr8:11655400-11658400	Weak transcription	Gastric	stomach
45	chr8:11655400-11658400	Weak transcription	Lung	lung
46	chr8:11655400-11658400	Weak transcription	NHDF-Ad	bronchial
47	chr8:11655400-11658600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:11655400-11658600	Weak transcription	Esophagus	oesophagus
49	chr8:11655400-11658600	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:11655400-11658600	Weak transcription	Spleen	Spleen

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