Variant report

Variant	rs571090503
Chromosome Location	chr11:67057620-67057621
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	SIN3AK20	chr11:67055589-67057726	MCF-7	breast:	n/a	n/a
2	MAX	chr11:67055073-67057636	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
3	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
4	POLR2A	chr11:67053161-67058605	NB4	blood:	n/a	n/a
5	POLR2A	chr11:67054841-67057644	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:67054042-67058114	HepG2	liver:	n/a	n/a
7	CTCF	chr11:67055512-67057988	SK-N-SH	brain:	n/a	chr11:67056535-67056548 chr11:67057173-67057186 chr11:67056220-67056233 chr11:67056471-67056484 chr11:67056533-67056551
8	MXI1	chr11:67055332-67057861	IMR90	lung:	n/a	n/a
9	POLR2A	chr11:67053952-67057709	K562	blood:	n/a	n/a
10	MAZ	chr11:67055580-67057811	IMR90	lung:	n/a	chr11:67056690-67056699 chr11:67056470-67056480
11	POLR2A	chr11:67054986-67057742	MCF-7	breast:	n/a	n/a
12	MTA3	chr11:67054004-67057712	GM12878	blood:	n/a	n/a
13	MXI1	chr11:67054705-67057868	SK-N-SH	brain:	n/a	n/a
14	ELF1	chr11:67056764-67057678	GM12878	blood:	n/a	chr11:67057241-67057254
15	EBF1	chr11:67057612-67058067	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:67041711-67058704	HL-60	blood:	n/a	n/a
17	ZNF263	chr11:67057237-67057847	HEK293-T-REx	kidney:	n/a	n/a
18	POLR2A	chr11:67056835-67057796	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
2	chr11:66885437..66888305-chr11:67055921..67058495,2	MCF-7	breast:
3	chr11:67054960..67058476-chr11:67120507..67123269,5	MCF-7	breast:
4	chr11:66821441..66825228-chr11:67054009..67057657,5	MCF-7	breast:
5	chr11:67056211..67059053-chr11:67235087..67237043,2	MCF-7	breast:
6	chr11:67056267..67057775-chr15:68549196..68551810,2	MCF-7	breast:
7	chr11:67056152..67057908-chr11:67157420..67159394,2	MCF-7	breast:
8	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:

Variant related genes	Relation type
ANKRD13D	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000128973	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000173156	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
12	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	esv3404977	chr11:67055801-67058349	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
14	esv3335486	chr11:67055826-67058024	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67055600-67057800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:67055800-67057800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:67055800-67057800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:67055800-67058000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:67055800-67058000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr11:67056000-67057800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:67056000-67057800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:67056000-67057800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:67056000-67057800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:67056000-67057800	Active TSS	Aorta	Aorta
11	chr11:67057000-67059200	Enhancers	Fetal Brain Male	brain
12	chr11:67057200-67057800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:67057200-67057800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:67057200-67057800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:67057200-67057800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:67057200-67057800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:67057200-67057800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr11:67057200-67057800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr11:67057200-67057800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:67057200-67057800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:67057200-67057800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:67057200-67057800	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr11:67057200-67057800	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr11:67057200-67057800	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr11:67057200-67057800	Flanking Active TSS	Right Ventricle	heart
26	chr11:67057200-67057800	Flanking Active TSS	Thymus	Thymus
27	chr11:67057200-67058000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:67057200-67058000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:67057200-67058000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr11:67057200-67058000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr11:67057200-67058000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr11:67057200-67058000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr11:67057200-67058000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr11:67057200-67058000	Flanking Active TSS	HUVEC	blood vessel
35	chr11:67057200-67058000	Flanking Active TSS	NH-A	brain
36	chr11:67057200-67058200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:67057200-67058200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:67057200-67058200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr11:67057200-67058400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:67057200-67058600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:67057200-67058600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:67057200-67059000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
43	chr11:67057400-67057800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr11:67057400-67057800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:67057400-67057800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
46	chr11:67057400-67057800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
47	chr11:67057400-67057800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:67057400-67057800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:67057400-67057800	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr11:67057400-67057800	Flanking Active TSS	Brain Anterior Caudate	brain

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