Variant report

Variant	rs1458837
Chromosome Location	chr11:75524774-75524775
allele	C/G
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	chr11:75523515-75528309	GM12892	blood:	n/a	n/a
2	GATA3	chr11:75524520-75525238	SK-N-SH	brain:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
3	GATA2	chr11:75524651-75525038	SH-SY5Y	brain:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
4	POLR2A	chr11:75524088-75524882	GM12878	blood:	n/a	n/a
5	JUND	chr11:75524652-75524911	HepG2	liver:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524805-75524816 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
6	JUND	chr11:75524536-75525002	Hela-S3	cervix:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524805-75524816 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
7	POLR2A	chr11:75524557-75526832	HUVEC	blood vessel:	n/a	n/a
8	MYC	chr11:75524649-75524941	MCF10A-Er-Src	breast:	n/a	chr11:75524806-75524815 chr11:75524807-75524816
9	MAZ	chr11:75524554-75525019	HepG2	liver:	n/a	chr11:75524806-75524815 chr11:75524807-75524816
10	MTA3	chr11:75524090-75525290	GM12878	blood:	n/a	n/a
11	FOSL2	chr11:75524561-75525038	MCF-7	breast:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524804-75524815 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
12	JUND	chr11:75524618-75524996	HepG2	liver:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524805-75524816 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
13	JUN	chr11:75524657-75524944	HepG2	liver:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
14	GATA3	chr11:75524648-75524996	T-47D	breast:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
15	MYC	chr11:75524229-75524821	MCF10A-Er-Src	breast:	n/a	chr11:75524806-75524815 chr11:75524807-75524816
16	ZNF143	chr11:75524671-75525037	K562	blood:	n/a	n/a
17	MXI1	chr11:75524362-75528392	SK-N-SH	brain:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
18	POLR2A	chr11:75523529-75524891	GM12892	blood:	n/a	n/a
19	FOS	chr11:75523761-75525026	MCF10A-Er-Src	breast:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524810-75524817 chr11:75524306-75524318 chr11:75524807-75524814 chr11:75524805-75524816 chr11:75524806-75524815 chr11:75524805-75524817
20	NFIC	chr11:75524013-75525070	GM12878	blood:	n/a	n/a
21	FOSL2	chr11:75524628-75525015	HepG2	liver:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524804-75524815 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
22	GATA3	chr11:75524585-75525027	T-47D	breast:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
23	PML	chr11:75524020-75525039	GM12878	blood:	n/a	n/a
24	MXI1	chr11:75524701-75528291	IMR90	lung:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
25	POLR2A	chr11:75524235-75528279	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr11:75523862-75528580	GM12891	blood:	n/a	n/a
27	FOXM1	chr11:75524059-75524809	GM12878	blood:	n/a	n/a
28	GATA3	chr11:75524166-75525146	MCF-7	breast:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
29	FOS	chr11:75524577-75524992	MCF10A-Er-Src	breast:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524805-75524816 chr11:75524806-75524815 chr11:75524805-75524817
30	FOSL2	chr11:75524594-75524947	HepG2	liver:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524804-75524815 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
31	IKZF1	chr11:75524247-75525013	GM12878	blood:	n/a	n/a
32	CHD1	chr11:75524200-75524909	GM12878	blood:	n/a	n/a
33	JUN	chr11:75524100-75528948	K562	blood:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75526209-75526218 chr11:75528353-75528362 chr11:75524810-75524817 chr11:75524306-75524318 chr11:75524807-75524814 chr11:75526420-75526429 chr11:75524806-75524815 chr11:75524805-75524817
34	RCOR1	chr11:75524687-75525039	K562	blood:	n/a	n/a
35	POLR2A	chr11:75524447-75526590	HUVEC	blood vessel:	n/a	n/a
36	ZNF384	chr11:75524668-75525092	K562	blood:	n/a	n/a
37	GATA3	chr11:75524685-75524935	SH-SY5Y	brain:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
38	HCFC1	chr11:75524194-75528712	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr11:75524702-75525030	Hela-S3	cervix:	n/a	n/a
40	JUND	chr11:75524599-75525040	K562	blood:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524805-75524816 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
41	FOS	chr11:75524627-75524994	MCF10A-Er-Src	breast:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524805-75524816 chr11:75524806-75524815 chr11:75524805-75524817
42	POLR2A	chr11:75524639-75524983	SK-N-SH	brain:	n/a	n/a
43	JUN	chr11:75524651-75525159	K562	blood:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
44	JUND	chr11:75524596-75525070	SK-N-SH	brain:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524805-75524816 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
45	GATA3	chr11:75524453-75525283	SK-N-SH	brain:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
46	JUN	chr11:75524542-75524974	K562	blood:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75524810-75524817 chr11:75524807-75524814 chr11:75524806-75524815 chr11:75524805-75524817
47	GATA2	chr11:75524222-75526005	HUVEC	blood vessel:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
48	STAT3	chr11:75524709-75524848	MCF10A-Er-Src	breast:	n/a	chr11:75524806-75524815 chr11:75524807-75524816
49	ARID3A	chr11:75524709-75525011	K562	blood:	n/a	n/a
50	ZNF143	chr11:75524248-75524904	GM12878	blood:	n/a	chr11:75524370-75524388

No.	Distal block	Cell Line	Cell type
1	chr11:75512671..75516260-chr11:75524397..75526274,3	MCF-7	breast:
2	chr11:75523255..75528239-chr11:75549898..75558151,19	MCF-7	breast:
3	chr11:75114198..75116876-chr11:75524077..75526236,2	K562	blood:
4	chr11:75507903..75509753-chr11:75522846..75525543,2	MCF-7	breast:
5	chr11:75274903..75276889-chr11:75523862..75525400,2	MCF-7	breast:
6	chr11:75111521..75113837-chr11:75523467..75525934,2	K562	blood:
7	chr11:75522755..75529746-chr11:75549090..75554652,13	MCF-7	breast:
8	chr11:75520218..75523701-chr11:75523941..75527681,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP6-4	chr11:75524559-75524906	ENSG00000255507.1
2	lnc-MAP6-4	chr11:75524648-75524906	ENSG00000255507.1
3	lnc-MAP6-4	chr11:75524648-75524906	ENSG00000255507.1
4	lnc-MAP6-4	chr11:75524648-75524906	ENSG00000255507.1
5	lnc-MAP6-3	chr11:75523525-75524906	NONHSAT023136

Variant related genes	Relation type
UVRAG	TF binding region
ENSG00000255507	TF binding region
ENSG00000254814	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000207445	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12284782	1.00[YRI][hapmap]
rs59929010	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75509000-75525200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:75509800-75525000	Weak transcription	Fetal Stomach	stomach
3	chr11:75512800-75525000	Weak transcription	Esophagus	oesophagus
4	chr11:75513000-75525200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:75513400-75525000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:75513800-75525000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:75520600-75525000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:75520600-75525000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:75521400-75525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:75521800-75524800	Weak transcription	Primary B cells from cord blood	blood
11	chr11:75522000-75525200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:75522200-75525000	Weak transcription	Lung	lung
13	chr11:75522400-75524800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:75522400-75525400	Weak transcription	Spleen	Spleen
15	chr11:75522800-75525000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:75522800-75525200	Weak transcription	Liver	Liver
17	chr11:75523000-75524800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:75523400-75525600	Flanking Active TSS	GM12878-XiMat	blood
19	chr11:75523600-75525000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:75523600-75525000	Enhancers	NHEK	skin
21	chr11:75523600-75525200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:75523600-75525200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:75523600-75525200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:75523600-75525200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:75523600-75525200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:75523600-75525400	Flanking Active TSS	HepG2	liver
27	chr11:75523800-75524800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:75523800-75525000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:75523800-75525000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:75523800-75525000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:75523800-75525200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:75523800-75525200	Enhancers	Placenta	Placenta
33	chr11:75523800-75525400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:75524000-75524800	Enhancers	Hela-S3	cervix
35	chr11:75524000-75525000	Enhancers	K562	blood
36	chr11:75524000-75525200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:75524000-75525200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:75524000-75525400	Enhancers	Primary B cells from peripheral blood	blood
39	chr11:75524200-75525000	Enhancers	HMEC	breast
40	chr11:75524200-75525200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:75524200-75525800	Flanking Active TSS	HUVEC	blood vessel
42	chr11:75524400-75524800	Weak transcription	Fetal Thymus	thymus
43	chr11:75524400-75525200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr11:75524400-75525200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:75524400-75525800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr11:75524600-75524800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr11:75524600-75524800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:75524600-75524800	Enhancers	A549	lung
49	chr11:75524600-75525000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:75524600-75525000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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