Variant report

Variant	rs557382046
Chromosome Location	chr11:46143636-46143637
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	CEBPD	chr11:46143080-46143825	HepG2	liver:	n/a	n/a
2	PBX3	chr11:46142440-46143665	A549	lung:	n/a	n/a
3	RUNX3	chr11:46143292-46143685	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:46143305-46143901	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:46142141-46143891	K562	blood:	n/a	n/a
6	MXI1	chr11:46139355-46144956	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr11:46142751-46143679	GM10847	blood:	n/a	n/a
8	POLR2A	chr11:46142104-46144100	K562	blood:	n/a	n/a
9	RCOR1	chr11:46142193-46144044	K562	blood:	n/a	n/a
10	POLR2A	chr11:46142303-46143972	GM19099	blood:	n/a	n/a
11	POLR2A	chr11:46143252-46143897	GM12878	blood:	n/a	n/a
12	EP300	chr11:46143582-46143931	SK-N-SH_RA	brain:	n/a	chr11:46143691-46143707 chr11:46143653-46143662 chr11:46143696-46143712 chr11:46143697-46143713
13	TAF1	chr11:46143308-46143645	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr11:46142820-46144204	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr11:46142422-46143944	GM15510	blood:	n/a	n/a
16	RFX5	chr11:46142307-46144129	Hela-S3	cervix:	n/a	n/a
17	MAX	chr11:46143283-46144145	A549	lung:	n/a	chr11:46143904-46143914
18	STAT5A	chr11:46143281-46143843	GM12878	blood:	n/a	n/a
19	REST	chr11:46143321-46143657	HL-60	blood:	n/a	n/a
20	RUNX3	chr11:46143213-46143715	GM12878	blood:	n/a	n/a
21	EP300	chr11:46143537-46143842	SK-N-SH_RA	brain:	n/a	chr11:46143691-46143707 chr11:46143653-46143662 chr11:46143696-46143712 chr11:46143697-46143713
22	POLR2A	chr11:46143320-46144165	HL-60	blood:	n/a	n/a
23	MXI1	chr11:46142850-46143957	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:46142770-46143745	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr11:46142091-46144380	PFSK-1	brain:	n/a	n/a
26	YY1	chr11:46142797-46144007	HepG2	liver:	n/a	chr11:46143689-46143700 chr11:46143889-46143900 chr11:46143625-46143636 chr11:46143924-46143933 chr11:46143648-46143662 chr11:46143699-46143713
27	POLR2A	chr11:46142437-46144065	MCF-7	breast:	n/a	n/a
28	ELF1	chr11:46142795-46143702	GM12878	blood:	n/a	chr11:46143643-46143655 chr11:46143457-46143468 chr11:46143457-46143468 chr11:46143010-46143022
29	POLR2A	chr11:46142332-46143994	K562	blood:	n/a	n/a
30	CREB1	chr11:46142805-46143903	A549	lung:	n/a	n/a
31	SIN3A	chr11:46142105-46144205	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:46142173-46144137	GM12878	blood:	n/a	n/a
33	CCNT2	chr11:46142347-46143802	K562	blood:	n/a	chr11:46142804-46142813 chr11:46142789-46142798
34	MYBL2	chr11:46143302-46143714	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:46142688-46144008	HEK293	kidney:	n/a	n/a
36	TAF1	chr11:46142702-46143687	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:46142787-46144110	K562	blood:	n/a	n/a
38	TBP	chr11:46142295-46144036	H1-hESC	embryonic stem cell:	n/a	n/a
39	FOXA1	chr11:46143323-46143636	HepG2	liver:	n/a	n/a
40	SIN3A	chr11:46143547-46143755	GM12878	blood:	n/a	n/a
41	MAX	chr11:46142071-46144198	Hela-S3	cervix:	n/a	chr11:46143904-46143914
42	POLR2A	chr11:46143312-46143667	A549	lung:	n/a	n/a
43	POLR2A	chr11:46143330-46143662	HepG2	liver:	n/a	n/a
44	RCOR1	chr11:46142159-46144114	IMR90	lung:	n/a	n/a
45	POLR2A	chr11:46143321-46143955	A549	lung:	n/a	n/a
46	POLR2A	chr11:46142797-46143923	GM12878	blood:	n/a	n/a
47	MAZ	chr11:46140638-46144398	IMR90	lung:	n/a	chr11:46143904-46143914 chr11:46140676-46140685
48	MAX	chr11:46142451-46144083	MCF-7	breast:	n/a	chr11:46143904-46143914
49	POLR2A	chr11:46142807-46143924	A549	lung:	n/a	n/a
50	JUND	chr11:46143396-46143890	H1-hESC	embryonic stem cell:	n/a	chr11:46143766-46143775 chr11:46143655-46143664 chr11:46143765-46143774

No.	Distal block	Cell Line	Cell type
1	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:
2	chr11:46143224..46145220-chr11:46317344..46319023,2	K562	blood:
3	chr11:45939411..45941074-chr11:46142423..46143961,2	MCF-7	breast:
4	chr11:46141950..46143787-chr11:46718847..46721759,2	K562	blood:
5	chr11:46143580..46145236-chr11:46369479..46372129,2	MCF-7	breast:
6	chr11:46142872..46144744-chr11:46382813..46385236,2	MCF-7	breast:
7	chr11:46143507..46145451-chr11:46333298..46335406,2	K562	blood:
8	chr11:46140775..46145022-chr11:46256711..46262008,9	MCF-7	breast:
9	chr11:46141914..46143962-chr11:46401995..46404790,2	K562	blood:
10	chr11:46028036..46029889-chr11:46143429..46146254,2	K562	blood:
11	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
12	chr11:46092605..46094562-chr11:46143473..46145813,3	K562	blood:
13	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
14	chr11:45942020..45943576-chr11:46141975..46144467,2	MCF-7	breast:
15	chr11:45986176..45988319-chr11:46143475..46145056,2	MCF-7	breast:
16	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:
17	chr11:45867179..45868974-chr11:46142893..46144558,2	K562	blood:

Variant related genes	Relation type
PHF21A	TF binding region
ENSG00000110492	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000175220	Chromatin interaction
ENSG00000165905	Chromatin interaction
ENSG00000121680	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3386885	chr11:46140826-46145624	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
2	esv3429154	chr11:46141751-46144174	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	n/a
3	esv3407307	chr11:46142401-46144949	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46138200-46144200	Active TSS	Ovary	ovary
2	chr11:46138800-46144600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:46138800-46144800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:46139000-46144400	Active TSS	GM12878-XiMat	blood
5	chr11:46139200-46144200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:46139400-46144600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:46139600-46144000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:46139600-46144400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:46139600-46145000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:46139800-46144600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:46139800-46144600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:46139800-46144600	Active TSS	K562	blood
13	chr11:46140200-46143800	Active TSS	Primary T cells fromperipheralblood	blood
14	chr11:46140200-46144400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:46140200-46144400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr11:46140200-46144400	Active TSS	NHLF	lung
17	chr11:46140200-46144600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:46140200-46144600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:46140200-46144600	Active TSS	Brain Germinal Matrix	brain
20	chr11:46140400-46144200	Active TSS	Colonic Mucosa	Colon
21	chr11:46140400-46144400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:46140400-46144400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:46140400-46144400	Active TSS	Brain Angular Gyrus	brain
24	chr11:46140400-46144400	Active TSS	Fetal Kidney	kidney
25	chr11:46140400-46144400	Active TSS	Psoas Muscle	Psoas
26	chr11:46140400-46144400	Active TSS	Stomach Smooth Muscle	stomach
27	chr11:46140400-46144400	Active TSS	HSMMtube	muscle
28	chr11:46140400-46144600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr11:46140400-46144600	Active TSS	A549	lung
30	chr11:46140400-46144800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:46140400-46144800	Active TSS	Right Ventricle	heart
32	chr11:46140600-46144000	Active TSS	Fetal Stomach	stomach
33	chr11:46140600-46144000	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr11:46140600-46144200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:46140600-46144200	Active TSS	Left Ventricle	heart
36	chr11:46140600-46144200	Active TSS	Small Intestine	intestine
37	chr11:46140600-46144400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:46140600-46144400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr11:46140600-46144400	Active TSS	Brain Substantia Nigra	brain
40	chr11:46140600-46144400	Active TSS	Colon Smooth Muscle	Colon
41	chr11:46140600-46144400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:46140600-46144600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:46140600-46144600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:46140600-46144600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:46140600-46144600	Active TSS	NHDF-Ad	bronchial
46	chr11:46140600-46144800	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr11:46140600-46144800	Active TSS	Fetal Brain Female	brain
48	chr11:46140600-46145000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:46140800-46144000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:46140800-46144000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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