Variant report

Variant	rs565467958
Chromosome Location	chr11:67057232-67057233
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	SIN3AK20	chr11:67055589-67057726	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:67055202-67057241	PFSK-1	brain:	n/a	n/a
3	MAX	chr11:67055073-67057636	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
4	MAX	chr11:67056752-67057425	ECC-1	luminal epithelium:	n/a	n/a
5	MYC	chr11:67054254-67057384	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
6	POLR2A	chr11:67055426-67057534	MCF-7	breast:	n/a	n/a
7	HCFC1	chr11:67055314-67057493	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
9	POLR2A	chr11:67053161-67058605	NB4	blood:	n/a	n/a
10	POLR2A	chr11:67054841-67057644	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr11:67056777-67057390	K562	blood:	n/a	n/a
12	POLR2A	chr11:67054042-67058114	HepG2	liver:	n/a	n/a
13	YY1	chr11:67056802-67057240	K562	blood:	n/a	n/a
14	MAZ	chr11:67055538-67057331	GM12878	blood:	n/a	chr11:67056690-67056699 chr11:67056470-67056480
15	CTCF	chr11:67055705-67057491	A549	lung:	n/a	chr11:67056535-67056548 chr11:67057173-67057186 chr11:67056220-67056233 chr11:67056471-67056484 chr11:67056533-67056551
16	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
17	STAT5A	chr11:67056974-67057321	GM12878	blood:	n/a	n/a
18	MXI1	chr11:67055332-67057861	IMR90	lung:	n/a	n/a
19	HMGN3	chr11:67055830-67057430	K562	blood:	n/a	n/a
20	ELF1	chr11:67057036-67057463	K562	blood:	n/a	chr11:67057241-67057254
21	SIN3A	chr11:67055636-67057370	H1-hESC	embryonic stem cell:	n/a	chr11:67056237-67056248 chr11:67056106-67056117 chr11:67055773-67055787 chr11:67056556-67056564
22	ZBTB7A	chr11:67055734-67057453	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr11:67055469-67057486	MCF-7	breast:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
24	ZBTB7A	chr11:67056313-67057250	K562	blood:	n/a	n/a
25	MAZ	chr11:67055284-67057310	K562	blood:	n/a	chr11:67056690-67056699 chr11:67056470-67056480
26	E2F6	chr11:67057108-67057247	K562	blood:	n/a	n/a
27	POLR2A	chr11:67057104-67057245	A549	lung:	n/a	n/a
28	MYC	chr11:67057152-67057264	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:67053952-67057709	K562	blood:	n/a	n/a
30	MAZ	chr11:67055580-67057811	IMR90	lung:	n/a	chr11:67056690-67056699 chr11:67056470-67056480
31	POLR2A	chr11:67054986-67057742	MCF-7	breast:	n/a	n/a
32	TCF12	chr11:67057055-67057543	A549	lung:	n/a	n/a
33	UBTF	chr11:67056892-67057302	K562	blood:	n/a	n/a
34	POLR2A	chr11:67050956-67057508	GM12892	blood:	n/a	n/a
35	ZBTB7A	chr11:67055662-67057472	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr11:67054010-67057380	K562	blood:	n/a	n/a
37	MTA3	chr11:67054004-67057712	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:67057109-67057493	GM12878	blood:	n/a	n/a
39	BHLHE40	chr11:67057225-67057267	K562	blood:	n/a	n/a
40	CREB1	chr11:67055448-67057384	HepG2	liver:	n/a	n/a
41	UBTF	chr11:67057045-67057339	K562	blood:	n/a	n/a
42	POLR2A	chr11:67055159-67057297	HUVEC	blood vessel:	n/a	n/a
43	ELF1	chr11:67055761-67057424	K562	blood:	n/a	chr11:67057241-67057254 chr11:67056493-67056506
44	JUN	chr11:67054848-67057459	K562	blood:	n/a	chr11:67055216-67055227
45	MXI1	chr11:67054705-67057868	SK-N-SH	brain:	n/a	n/a
46	MAX	chr11:67055401-67057530	A549	lung:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
47	POLR2A	chr11:67055322-67057358	ProgFib	skin:	n/a	n/a
48	POLR2A	chr11:67051980-67057469	GM12878	blood:	n/a	n/a
49	MYC	chr11:67057210-67057245	K562	blood:	n/a	n/a
50	POLR2A	chr11:67054202-67057392	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
2	chr11:67055572..67057454-chr15:91474041..91476602,2	MCF-7	breast:
3	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
4	chr11:66885437..66888305-chr11:67055921..67058495,2	MCF-7	breast:
5	chr11:67054960..67058476-chr11:67120507..67123269,5	MCF-7	breast:
6	chr11:66821441..66825228-chr11:67054009..67057657,5	MCF-7	breast:
7	chr11:67056211..67059053-chr11:67235087..67237043,2	MCF-7	breast:
8	chr11:66610034..66612192-chr11:67054679..67057615,2	MCF-7	breast:
9	chr11:67056267..67057775-chr15:68549196..68551810,2	MCF-7	breast:
10	chr11:67056152..67057908-chr11:67157420..67159394,2	MCF-7	breast:
11	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:
12	chr11:66793222..66795910-chr11:67054347..67057344,2	MCF-7	breast:
13	chr11:67055136..67057390-chr11:67140087..67141656,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD13D	TF binding region
ENSG00000184508	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000128973	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173120	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:127 , 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	chr11:67055800-67057400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:67055800-67057400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:67055800-67057400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:67055800-67057400	Active TSS	Brain Substantia Nigra	brain
6	chr11:67055800-67057400	Active TSS	Colon Smooth Muscle	Colon
7	chr11:67055800-67057400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr11:67055800-67057400	Active TSS	Small Intestine	intestine
9	chr11:67055800-67057400	Active TSS	A549	lung
10	chr11:67055800-67057600	Active TSS	Fetal Kidney	kidney
11	chr11:67055800-67057800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:67055800-67057800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:67055800-67058000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:67055800-67058000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:67056000-67057400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr11:67056000-67057400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:67056000-67057400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:67056000-67057400	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr11:67056000-67057400	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr11:67056000-67057400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:67056000-67057400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:67056000-67057400	Active TSS	Brain Angular Gyrus	brain
23	chr11:67056000-67057400	Active TSS	Brain Anterior Caudate	brain
24	chr11:67056000-67057400	Active TSS	Brain Cingulate Gyrus	brain
25	chr11:67056000-67057400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr11:67056000-67057400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:67056000-67057400	Active TSS	Esophagus	oesophagus
28	chr11:67056000-67057400	Active TSS	Fetal Brain Female	brain
29	chr11:67056000-67057400	Active TSS	Fetal Intestine Small	intestine
30	chr11:67056000-67057400	Active TSS	Fetal Stomach	stomach
31	chr11:67056000-67057400	Active TSS	Left Ventricle	heart
32	chr11:67056000-67057400	Active TSS	Ovary	ovary
33	chr11:67056000-67057400	Active TSS	Placenta Amnion	Placenta Amnion
34	chr11:67056000-67057400	Active TSS	Rectal Smooth Muscle	rectum
35	chr11:67056000-67057600	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:67056000-67057600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:67056000-67057600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr11:67056000-67057600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:67056000-67057600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr11:67056000-67057600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:67056000-67057600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:67056000-67057600	Active TSS	HepG2	liver
43	chr11:67056000-67057600	Active TSS	HSMM	muscle
44	chr11:67056000-67057600	Active TSS	NHDF-Ad	bronchial
45	chr11:67056000-67057600	Active TSS	Osteobl	bone
46	chr11:67056000-67057800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:67056000-67057800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:67056000-67057800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:67056000-67057800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:67056000-67057800	Active TSS	Aorta	Aorta

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