Variant report

Variant	rs12275857
Chromosome Location	chr11:59434780-59434781
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	IRF1	chr11:59434481-59434794	K562	blood:	n/a	chr11:59434618-59434628 chr11:59434617-59434630 chr11:59434617-59434630 chr11:59434617-59434630 chr11:59434622-59434642 chr11:59434620-59434634 chr11:59434618-59434632 chr11:59434617-59434631 chr11:59434616-59434636 chr11:59434614-59434628 chr11:59434617-59434628
2	CEBPB	chr11:59434424-59434795	IMR90	lung:	n/a	chr11:59434602-59434613 chr11:59434602-59434615 chr11:59434628-59434641
3	CEBPB	chr11:59434439-59434799	HepG2	liver:	n/a	chr11:59434602-59434613 chr11:59434602-59434615 chr11:59434628-59434641
4	CEBPB	chr11:59434410-59434790	Hela-S3	cervix:	n/a	chr11:59434602-59434613 chr11:59434602-59434615 chr11:59434628-59434641
5	SPI1	chr11:59434347-59434853	HL-60	blood:	n/a	chr11:59434713-59434722
6	IRF1	chr11:59434398-59435008	K562	blood:	n/a	chr11:59434618-59434628 chr11:59434617-59434630 chr11:59434617-59434630 chr11:59434617-59434630 chr11:59434622-59434642 chr11:59434947-59434960 chr11:59434620-59434634 chr11:59434618-59434632 chr11:59434617-59434631 chr11:59434616-59434636 chr11:59434614-59434628 chr11:59434617-59434628
7	STAT3	chr11:59434485-59435051	MCF10A-Er-Src	breast:	n/a	chr11:59434617-59434628 chr11:59434623-59434634

No.	Distal block	Cell Line	Cell type
1	chr11:59427010..59429204-chr11:59432808..59435498,2	MCF-7	breast:
2	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
3	chr11:59331158..59335239-chr11:59433739..59436205,3	K562	blood:
4	chr11:59331158..59335239-chr11:59432687..59436578,5	K562	blood:

Variant related genes	Relation type
ENSG00000255355	TF binding region
ENSG00000110048	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000255008	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11230007	1.00[AMR][1000 genomes]
rs12275697	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12275939	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12276264	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279069	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12280801	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281446	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12282534	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12282585	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12283245	1.00[AMR][1000 genomes]
rs12285516	1.00[AMR][1000 genomes]
rs12287360	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292726	1.00[AMR][1000 genomes]
rs2228289	1.00[AMR][1000 genomes]
rs55861319	1.00[AMR][1000 genomes]
rs55924869	1.00[AMR][1000 genomes]
rs56198198	1.00[AMR][1000 genomes]
rs57004175	1.00[AMR][1000 genomes]
rs57174205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58462134	1.00[AMR][1000 genomes]
rs60249922	1.00[AMR][1000 genomes]
rs7117032	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484843	1.00[AMR][1000 genomes]
rs73484845	1.00[AMR][1000 genomes]
rs73484869	1.00[AMR][1000 genomes]
rs73484887	1.00[AMR][1000 genomes]
rs73486954	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488817	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488858	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949552	0.94[YRI][hapmap];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59409200-59435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:59413400-59434800	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:59413600-59434800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:59415400-59435400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:59425600-59435000	Weak transcription	Small Intestine	intestine
6	chr11:59425600-59435600	Weak transcription	Aorta	Aorta
7	chr11:59425600-59435600	Weak transcription	Gastric	stomach
8	chr11:59425800-59435000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:59425800-59435400	Weak transcription	Pancreas	Pancrea
10	chr11:59426200-59435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:59426200-59435400	Weak transcription	Esophagus	oesophagus
12	chr11:59426400-59435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:59426800-59435000	Weak transcription	Right Ventricle	heart
14	chr11:59427000-59435400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:59428400-59435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:59428600-59435000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:59428600-59435200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:59429200-59435200	Weak transcription	Fetal Brain Male	brain
19	chr11:59429600-59435200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:59431800-59435400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:59432400-59434800	Weak transcription	Fetal Brain Female	brain
22	chr11:59432400-59434800	Weak transcription	Fetal Lung	lung
23	chr11:59432400-59435000	Weak transcription	Psoas Muscle	Psoas
24	chr11:59432600-59435000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:59432600-59435000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:59433200-59434800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:59433200-59435000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:59433200-59435400	Weak transcription	Ovary	ovary
29	chr11:59433400-59435000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:59433400-59435000	Weak transcription	Brain Germinal Matrix	brain
31	chr11:59433600-59435000	Weak transcription	Left Ventricle	heart
32	chr11:59433600-59435400	Weak transcription	Lung	lung
33	chr11:59433600-59435400	Weak transcription	Thymus	Thymus
34	chr11:59433600-59435400	Weak transcription	Spleen	Spleen
35	chr11:59433800-59435000	Weak transcription	Fetal Stomach	stomach
36	chr11:59433800-59435600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:59434000-59434800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:59434000-59434800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr11:59434000-59434800	Genic enhancers	Hela-S3	cervix
40	chr11:59434200-59434800	Genic enhancers	A549	lung
41	chr11:59434200-59435000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:59434200-59435000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:59434200-59435200	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:59434200-59435200	Active TSS	GM12878-XiMat	blood
45	chr11:59434200-59435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:59434200-59435400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:59434200-59435400	Weak transcription	Fetal Thymus	thymus
48	chr11:59434400-59434800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:59434400-59434800	Weak transcription	Brain Anterior Caudate	brain
50	chr11:59434400-59434800	Weak transcription	Fetal Kidney	kidney

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