Variant report

Variant	rs368498130
Chromosome Location	chr11:67057093-67057094
allele	-/C
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	chr11:67055368-67057200	HUVEC	blood vessel:	n/a	n/a
2	YY1	chr11:67056787-67057098	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr11:67055589-67057726	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:67055202-67057241	PFSK-1	brain:	n/a	n/a
5	FOXP2	chr11:67055604-67057223	PFSK-1	brain:	n/a	n/a
6	MAX	chr11:67055073-67057636	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
7	MAX	chr11:67056752-67057425	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr11:67054254-67057384	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
9	YY1	chr11:67056760-67057180	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:67055426-67057534	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:67054037-67057093	PFSK-1	brain:	n/a	n/a
12	HCFC1	chr11:67055314-67057493	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
14	POLR2A	chr11:67053161-67058605	NB4	blood:	n/a	n/a
15	POLR2A	chr11:67054841-67057644	HUVEC	blood vessel:	n/a	n/a
16	MAX	chr11:67056777-67057390	K562	blood:	n/a	n/a
17	POLR2A	chr11:67054042-67058114	HepG2	liver:	n/a	n/a
18	YY1	chr11:67056802-67057240	K562	blood:	n/a	n/a
19	MAZ	chr11:67055538-67057331	GM12878	blood:	n/a	chr11:67056690-67056699 chr11:67056470-67056480
20	CTCF	chr11:67055705-67057491	A549	lung:	n/a	chr11:67056535-67056548 chr11:67057173-67057186 chr11:67056220-67056233 chr11:67056471-67056484 chr11:67056533-67056551
21	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
22	STAT5A	chr11:67056974-67057321	GM12878	blood:	n/a	n/a
23	CTCF	chr11:67056301-67057135	K562	blood:	n/a	chr11:67056535-67056548 chr11:67056471-67056484 chr11:67056533-67056551
24	MXI1	chr11:67055332-67057861	IMR90	lung:	n/a	n/a
25	HMGN3	chr11:67055830-67057430	K562	blood:	n/a	n/a
26	ELF1	chr11:67057036-67057463	K562	blood:	n/a	chr11:67057241-67057254
27	SIN3A	chr11:67055636-67057370	H1-hESC	embryonic stem cell:	n/a	chr11:67056237-67056248 chr11:67056106-67056117 chr11:67055773-67055787 chr11:67056556-67056564
28	ZBTB7A	chr11:67055734-67057453	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr11:67055469-67057486	MCF-7	breast:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
30	ZBTB7A	chr11:67056313-67057250	K562	blood:	n/a	n/a
31	MAZ	chr11:67055284-67057310	K562	blood:	n/a	chr11:67056690-67056699 chr11:67056470-67056480
32	POLR2A	chr11:67055734-67057167	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr11:67053952-67057709	K562	blood:	n/a	n/a
34	MAZ	chr11:67055580-67057811	IMR90	lung:	n/a	chr11:67056690-67056699 chr11:67056470-67056480
35	POLR2A	chr11:67054986-67057742	MCF-7	breast:	n/a	n/a
36	POLR2A	chr11:67056779-67057097	GM12878	blood:	n/a	n/a
37	YY1	chr11:67056774-67057095	SK-N-SH_RA	brain:	n/a	n/a
38	POLR2A	chr11:67054247-67057119	GM15510	blood:	n/a	n/a
39	TCF12	chr11:67057055-67057543	A549	lung:	n/a	n/a
40	UBTF	chr11:67056892-67057302	K562	blood:	n/a	n/a
41	POLR2A	chr11:67050956-67057508	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:67055457-67057187	Gliobla	brain:	n/a	n/a
43	ZBTB7A	chr11:67055662-67057472	ECC-1	luminal epithelium:	n/a	n/a
44	YY1	chr11:67056831-67057102	A549	lung:	n/a	n/a
45	POLR2A	chr11:67054010-67057380	K562	blood:	n/a	n/a
46	POLR2A	chr11:67054680-67057097	GM19099	blood:	n/a	n/a
47	POLR2A	chr11:67054167-67057098	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:67057000-67057150	SAEC	small airway:	n/a	n/a
49	MTA3	chr11:67054004-67057712	GM12878	blood:	n/a	n/a
50	CREB1	chr11:67055448-67057384	HepG2	liver:	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
ENSG00000173227	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000128973	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000184508	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172663	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	chr11:67055800-67057200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:67055800-67057200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:67055800-67057200	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr11:67055800-67057400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:67055800-67057400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:67055800-67057400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:67055800-67057400	Active TSS	Brain Substantia Nigra	brain
9	chr11:67055800-67057400	Active TSS	Colon Smooth Muscle	Colon
10	chr11:67055800-67057400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr11:67055800-67057400	Active TSS	Small Intestine	intestine
12	chr11:67055800-67057400	Active TSS	A549	lung
13	chr11:67055800-67057600	Active TSS	Fetal Kidney	kidney
14	chr11:67055800-67057800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:67055800-67057800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:67055800-67058000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:67055800-67058000	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:67056000-67057200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:67056000-67057200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:67056000-67057200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:67056000-67057200	Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:67056000-67057200	Active TSS	Primary B cells from peripheral blood	blood
23	chr11:67056000-67057200	Active TSS	Primary T cells from cord blood	blood
24	chr11:67056000-67057200	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr11:67056000-67057200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr11:67056000-67057200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr11:67056000-67057200	Active TSS	Brain Germinal Matrix	brain
28	chr11:67056000-67057200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr11:67056000-67057200	Weak transcription	Fetal Heart	heart
30	chr11:67056000-67057200	Active TSS	Fetal Intestine Large	intestine
31	chr11:67056000-67057200	Active TSS	Fetal Muscle Leg	muscle
32	chr11:67056000-67057200	Active TSS	Gastric	stomach
33	chr11:67056000-67057200	Active TSS	Lung	lung
34	chr11:67056000-67057200	Active TSS	Psoas Muscle	Psoas
35	chr11:67056000-67057200	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr11:67056000-67057200	Active TSS	Right Ventricle	heart
37	chr11:67056000-67057200	Active TSS	Thymus	Thymus
38	chr11:67056000-67057200	Active TSS	Dnd41	blood
39	chr11:67056000-67057200	Active TSS	Hela-S3	cervix
40	chr11:67056000-67057200	Active TSS	K562	blood
41	chr11:67056000-67057400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr11:67056000-67057400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:67056000-67057400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:67056000-67057400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr11:67056000-67057400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr11:67056000-67057400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:67056000-67057400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:67056000-67057400	Active TSS	Brain Angular Gyrus	brain
49	chr11:67056000-67057400	Active TSS	Brain Anterior Caudate	brain
50	chr11:67056000-67057400	Active TSS	Brain Cingulate Gyrus	brain

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