Variant report

Variant	rs562240891
Chromosome Location	chr11:3862865-3862866
allele	A/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	MXI1	chr11:3861164-3863791	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr11:3862829-3863069	A549	lung:	n/a	chr11:3862959-3862975 chr11:3862854-3862864 chr11:3862960-3862973 chr11:3862961-3862971 chr11:3862958-3862976
3	ATF2	chr11:3862451-3863240	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:3860160-3863143	K562	blood:	n/a	n/a
5	EGR1	chr11:3861895-3863100	K562	blood:	n/a	chr11:3862477-3862490 chr11:3862844-3862857 chr11:3862811-3862821 chr11:3862805-3862820 chr11:3862943-3862953 chr11:3862048-3862057 chr11:3862474-3862488 chr11:3862017-3862027 chr11:3862806-3862819 chr11:3862312-3862325 chr11:3862294-3862304 chr11:3862806-3862819 chr11:3862477-3862487 chr11:3862808-3862818
6	JUND	chr11:3861962-3863103	A549	lung:	n/a	chr11:3862182-3862191
7	CTCF	chr11:3862840-3862990	WI-38	lung:	n/a	chr11:3862959-3862975 chr11:3862854-3862864 chr11:3862960-3862973 chr11:3862961-3862971 chr11:3862958-3862976
8	CTCF	chr11:3862838-3863091	MCF-7	breast:	n/a	chr11:3862959-3862975 chr11:3862854-3862864 chr11:3862960-3862973 chr11:3862961-3862971 chr11:3862958-3862976
9	JUN	chr11:3862523-3863093	K562	blood:	n/a	n/a
10	TCF12	chr11:3862697-3863053	GM12878	blood:	n/a	n/a
11	REST	chr11:3862712-3863129	PFSK-1	brain:	n/a	chr11:3862772-3862786 chr11:3862783-3862796
12	POLR2A	chr11:3861928-3863086	HEK293	kidney:	n/a	n/a
13	CTCF	chr11:3862841-3863107	MCF-7	breast:	n/a	chr11:3862959-3862975 chr11:3862854-3862864 chr11:3862960-3862973 chr11:3862961-3862971 chr11:3862958-3862976
14	POU2F2	chr11:3862253-3863181	GM12878	blood:	n/a	chr11:3862282-3862294 chr11:3862808-3862820 chr11:3862848-3862860 chr11:3862479-3862491
15	TAF1	chr11:3862772-3863191	PFSK-1	brain:	n/a	n/a
16	MAFK	chr11:3862679-3863159	HepG2	liver:	n/a	chr11:3862683-3862700
17	ELF1	chr11:3862794-3863170	A549	lung:	n/a	n/a
18	MAZ	chr11:3860356-3863182	GM12878	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
19	TFAP2A	chr11:3862443-3863100	Hela-S3	cervix:	n/a	chr11:3862598-3862606 chr11:3862598-3862606 chr11:3862596-3862611 chr11:3862598-3862606
20	RAD21	chr11:3862781-3863166	A549	lung:	n/a	chr11:3862958-3862970 chr11:3862959-3862972 chr11:3862956-3862975 chr11:3862962-3862971
21	EP300	chr11:3862339-3863219	K562	blood:	n/a	n/a
22	SPI1	chr11:3862570-3862902	GM12878	blood:	n/a	chr11:3862577-3862590 chr11:3862807-3862820
23	POLR2A	chr11:3861619-3863157	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:3861415-3863095	GM15510	blood:	n/a	n/a
25	SIN3AK20	chr11:3862820-3863152	HepG2	liver:	n/a	n/a
26	CTCF	chr11:3862730-3863226	MCF-7	breast:	n/a	chr11:3862959-3862975 chr11:3862854-3862864 chr11:3862960-3862973 chr11:3862961-3862971 chr11:3862958-3862976
27	EBF1	chr11:3862314-3863024	GM12878	blood:	n/a	chr11:3862698-3862708 chr11:3862544-3862553 chr11:3862648-3862659 chr11:3862698-3862707
28	MAX	chr11:3862290-3863241	K562	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487
29	SRF	chr11:3862659-3862907	GM12878	blood:	n/a	chr11:3862809-3862819
30	RCOR1	chr11:3862473-3863386	GM12878	blood:	n/a	n/a
31	CTCF	chr11:3862667-3863199	K562	blood:	n/a	chr11:3862959-3862975 chr11:3862854-3862864 chr11:3862960-3862973 chr11:3862961-3862971 chr11:3862958-3862976
32	MAX	chr11:3860293-3863282	NB4	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
33	POLR2A	chr11:3860236-3863236	GM19099	blood:	n/a	n/a
34	NFIC	chr11:3862359-3863251	GM12878	blood:	n/a	n/a
35	YY1	chr11:3862469-3863134	GM12892	blood:	n/a	chr11:3862811-3862820
36	SP4	chr11:3862781-3863097	H1-hESC	embryonic stem cell:	n/a	chr11:3862806-3862822 chr11:3862808-3862824 chr11:3862939-3862955
37	GABPA	chr11:3861769-3863058	K562	blood:	n/a	chr11:3862811-3862820 chr11:3862046-3862055 chr11:3862295-3862304
38	HMGN3	chr11:3862431-3863094	K562	blood:	n/a	n/a
39	MXI1	chr11:3861211-3863386	IMR90	lung:	n/a	n/a
40	E2F1	chr11:3861853-3863138	Hela-S3	cervix:	n/a	chr11:3862156-3862166 chr11:3862512-3862519 chr11:3862811-3862820 chr11:3862868-3862880 chr11:3862153-3862163 chr11:3862299-3862308
41	RFX5	chr11:3862615-3863276	Hela-S3	cervix:	n/a	n/a
42	FOXM1	chr11:3862427-3863241	GM12878	blood:	n/a	n/a
43	CTCF	chr11:3862820-3862970	AG04450	lung:	n/a	chr11:3862854-3862864
44	TAF1	chr11:3862256-3863141	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr11:3862569-3862896	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:3861609-3863110	K562	blood:	n/a	n/a
47	POLR2A	chr11:3861430-3863109	GM19193	blood:	n/a	n/a
48	RCOR1	chr11:3862457-3863240	K562	blood:	n/a	n/a
49	POLR2A	chr11:3861378-3863162	GM12878	blood:	n/a	n/a
50	MAX	chr11:3862567-3863314	H1-hESC	embryonic stem cell:	n/a	chr11:3862809-3862819

No.	Distal block	Cell Line	Cell type
1	chr11:3862088..3863001-chr16:31469564..31470402,2	Hela-S3	cervix:
2	chr11:3862483..3865232-chr11:3890007..3892959,2	K562	blood:
3	chr11:3861720..3863854-chr11:3876323..3877978,2	MCF-7	breast:
4	chr11:3858623..3864245-chr11:3874959..3879217,11	K562	blood:
5	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
6	chr11:3817048..3820526-chr11:3859691..3864703,8	K562	blood:
7	chr11:3857497..3860664-chr11:3860718..3863734,5	MCF-7	breast:
8	chr11:3862693..3864773-chr11:4060192..4062998,2	MCF-7	breast:
9	chr11:3862793..3864567-chr11:4100746..4102871,2	K562	blood:
10	chr11:3861261..3864016-chr11:3874431..3876289,3	MCF-7	breast:
11	chr11:3842483..3845464-chr11:3861552..3863945,2	MCF-7	breast:
12	chr11:3845241..3847374-chr11:3862493..3863741,9	K562	blood:
13	chr11:3845748..3846401-chr11:3862699..3863275,2	MCF-7	breast:
14	chr11:3827764..3831807-chr11:3860648..3864124,7	K562	blood:
15	chr11:3861239..3864353-chr11:4095380..4099458,3	MCF-7	breast:
16	chr11:3862506..3865244-chr11:4006779..4008318,2	K562	blood:
17	chr11:3860189..3865275-chr11:3872883..3879283,10	K562	blood:
18	chr11:3829046..3832201-chr11:3860687..3864518,3	MCF-7	breast:
19	chr11:3861564..3863892-chr11:4106134..4108924,2	MCF-7	breast:

Variant related genes	Relation type
RHOG	TF binding region
ENSG00000229368	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000110713	Chromatin interaction
ENSG00000263421	Chromatin interaction
ENSG00000177105	Chromatin interaction
ENSG00000167323	Chromatin interaction
ENSG00000228661	Chromatin interaction
ENSG00000148985	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv896894	chr11:3859856-3888234	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
14	esv3325772	chr11:3860901-3863749	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	esv3479108	chr11:3861476-3863424	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
16	esv3479119	chr11:3861476-3863424	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3860400-3863000	Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr11:3860400-3863000	Active TSS	Thymus	Thymus
3	chr11:3860400-3863000	Active TSS	GM12878-XiMat	blood
4	chr11:3860600-3863000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:3860600-3863000	Active TSS	Primary monocytes fromperipheralblood	blood
6	chr11:3860600-3863000	Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:3860600-3863000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:3860600-3863000	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr11:3860600-3863000	Active TSS	Left Ventricle	heart
10	chr11:3860600-3863000	Active TSS	Right Atrium	heart
11	chr11:3860600-3863000	Active TSS	HSMM	muscle
12	chr11:3860600-3863000	Active TSS	NHLF	lung
13	chr11:3860600-3863200	Active TSS	Colonic Mucosa	Colon
14	chr11:3860800-3863200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:3861000-3863200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr11:3861200-3863000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:3861200-3863000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr11:3861200-3863000	Active TSS	Muscle Satellite Cultured Cells	--
19	chr11:3861200-3863000	Active TSS	Gastric	stomach
20	chr11:3861200-3863000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:3861200-3863000	Active TSS	Right Ventricle	heart
22	chr11:3861200-3863000	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr11:3861200-3863000	Active TSS	HSMMtube	muscle
24	chr11:3861200-3863000	Active TSS	NHDF-Ad	bronchial
25	chr11:3861200-3863200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:3861200-3863200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:3861200-3863200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:3861400-3863000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:3861400-3863000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:3861400-3863000	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:3861400-3863000	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:3861400-3863000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:3861400-3863000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr11:3861400-3863000	Active TSS	Aorta	Aorta
35	chr11:3861400-3863000	Active TSS	Brain Hippocampus Middle	brain
36	chr11:3861400-3863000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:3861400-3863000	Active TSS	Brain Substantia Nigra	brain
38	chr11:3861400-3863000	Active TSS	Fetal Kidney	kidney
39	chr11:3861400-3863000	Active TSS	Ovary	ovary
40	chr11:3861400-3863000	Active TSS	A549	lung
41	chr11:3861400-3863000	Active TSS	K562	blood
42	chr11:3861400-3863000	Active TSS	NHEK	skin
43	chr11:3861400-3863000	Active TSS	Osteobl	bone
44	chr11:3861400-3863200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr11:3861400-3863200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:3861400-3863200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr11:3861400-3863200	Active TSS	Small Intestine	intestine
48	chr11:3861600-3863000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:3861600-3863000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:3861600-3863000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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