Variant report

Variant	rs4752842
Chromosome Location	chr11:47517900-47517901
allele	A/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	GATA3	chr11:47517738-47518112	T-47D	breast:	n/a	chr11:47517882-47517903 chr11:47517904-47517912 chr11:47517898-47517919 chr11:47517905-47517912 chr11:47517889-47517896 chr11:47517905-47517912 chr11:47517901-47517917 chr11:47517888-47517896 chr11:47517889-47517896 chr11:47517889-47517896 chr11:47517878-47517895 chr11:47517905-47517912 chr11:47517884-47517900 chr11:47517887-47517896
2	GATA3	chr11:47517607-47518279	SK-N-SH	brain:	n/a	chr11:47517882-47517903 chr11:47517904-47517912 chr11:47517898-47517919 chr11:47517905-47517912 chr11:47517889-47517896 chr11:47517905-47517912 chr11:47517901-47517917 chr11:47517888-47517896 chr11:47517889-47517896 chr11:47517889-47517896 chr11:47517878-47517895 chr11:47517905-47517912 chr11:47517884-47517900 chr11:47517887-47517896
3	GATA3	chr11:47517776-47518135	SH-SY5Y	brain:	n/a	chr11:47517882-47517903 chr11:47517904-47517912 chr11:47517898-47517919 chr11:47517905-47517912 chr11:47517889-47517896 chr11:47517905-47517912 chr11:47517901-47517917 chr11:47517888-47517896 chr11:47517889-47517896 chr11:47517889-47517896 chr11:47517878-47517895 chr11:47517905-47517912 chr11:47517884-47517900 chr11:47517887-47517896
4	GATA2	chr11:47517791-47518115	SH-SY5Y	brain:	n/a	chr11:47517882-47517903 chr11:47517898-47517919 chr11:47517905-47517912 chr11:47517889-47517896 chr11:47517905-47517912 chr11:47517901-47517917 chr11:47517889-47517896 chr11:47517889-47517896 chr11:47517878-47517895 chr11:47517905-47517912 chr11:47517884-47517900 chr11:47517887-47517896
5	GATA3	chr11:47517618-47518193	SK-N-SH	brain:	n/a	chr11:47517882-47517903 chr11:47517904-47517912 chr11:47517898-47517919 chr11:47517905-47517912 chr11:47517889-47517896 chr11:47517905-47517912 chr11:47517901-47517917 chr11:47517888-47517896 chr11:47517889-47517896 chr11:47517889-47517896 chr11:47517878-47517895 chr11:47517905-47517912 chr11:47517884-47517900 chr11:47517887-47517896
6	CEBPD	chr11:47517708-47518201	K562	blood:	n/a	n/a
7	GATA3	chr11:47517707-47518078	MCF-7	breast:	n/a	chr11:47517882-47517903 chr11:47517904-47517912 chr11:47517898-47517919 chr11:47517905-47517912 chr11:47517889-47517896 chr11:47517905-47517912 chr11:47517901-47517917 chr11:47517888-47517896 chr11:47517889-47517896 chr11:47517889-47517896 chr11:47517878-47517895 chr11:47517905-47517912 chr11:47517884-47517900 chr11:47517887-47517896

No.	Distal block	Cell Line	Cell type
1	chr11:47510397..47513087-chr11:47516019..47518025,2	K562	blood:
2	chr11:47517872..47519954-chr11:47520784..47523581,2	MCF-7	breast:
3	chr11:47514295..47515805-chr11:47517805..47520286,2	K562	blood:
4	chr11:47517168..47520094-chr11:47522959..47526818,3	K562	blood:
5	chr11:47513499..47515830-chr11:47517805..47520309,4	K562	blood:
6	chr11:47517666..47520467-chr11:47541808..47545502,3	K562	blood:

Variant related genes	Relation type
CELF1	TF binding region
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11828339	0.82[MEX][hapmap]
rs1474056	0.82[MEX][hapmap]
rs17198158	0.82[MEX][hapmap]
rs2138767	0.82[MEX][hapmap]
rs3847503	0.82[MEX][hapmap]
rs4147730	0.82[MEX][hapmap]
rs4752783	0.82[MEX][hapmap]
rs4752786	0.82[MEX][hapmap]
rs4752839	0.82[MEX][hapmap]
rs4752843	0.82[MEX][hapmap]
rs7120737	0.82[MEX][hapmap]

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	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47485800-47518200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:47489200-47522800	Strong transcription	Fetal Thymus	thymus
3	chr11:47505600-47521600	Weak transcription	Fetal Brain Male	brain
4	chr11:47506400-47521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47507000-47528200	Weak transcription	Small Intestine	intestine
6	chr11:47507200-47522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:47508800-47519800	Weak transcription	Gastric	stomach
9	chr11:47508800-47519800	Weak transcription	Right Ventricle	heart
10	chr11:47508800-47521200	Weak transcription	Spleen	Spleen
11	chr11:47508800-47521600	Weak transcription	Fetal Brain Female	brain
12	chr11:47509000-47520000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:47509000-47521200	Weak transcription	Lung	lung
14	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:47509200-47521200	Weak transcription	Brain Germinal Matrix	brain
16	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:47510000-47521200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:47510200-47521000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
20	chr11:47510600-47519800	Weak transcription	Left Ventricle	heart
21	chr11:47510600-47519800	Weak transcription	Pancreas	Pancrea
22	chr11:47510800-47518000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:47510800-47529800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:47511000-47520000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:47511000-47525000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:47511200-47520600	Weak transcription	Stomach Mucosa	stomach
27	chr11:47511200-47528600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:47513000-47519400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:47513000-47525000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:47513200-47518000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:47513200-47518000	Strong transcription	GM12878-XiMat	blood
32	chr11:47513200-47519400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:47513200-47519600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:47513200-47523000	Strong transcription	Dnd41	blood
35	chr11:47513400-47519600	Strong transcription	Primary B cells from cord blood	blood
36	chr11:47513400-47521800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:47513400-47528400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:47513600-47518000	Strong transcription	HSMM	muscle
39	chr11:47513600-47518400	Strong transcription	Fetal Intestine Large	intestine
40	chr11:47513600-47521200	Strong transcription	Primary T cells from cord blood	blood
41	chr11:47513800-47523000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:47514000-47518000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr11:47514200-47520600	Strong transcription	A549	lung
44	chr11:47514400-47518000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:47514400-47522800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:47514800-47521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:47515000-47518800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:47515000-47519400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:47515400-47518400	Strong transcription	K562	blood
50	chr11:47515400-47518800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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