Variant report

Variant	rs558685473
Chromosome Location	chr11:3861766-3861767
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	MXI1	chr11:3861164-3863791	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:3860160-3863143	K562	blood:	n/a	n/a
3	MAZ	chr11:3860356-3863182	GM12878	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
4	POLR2A	chr11:3861619-3863157	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:3861415-3863095	GM15510	blood:	n/a	n/a
6	MAX	chr11:3860293-3863282	NB4	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
7	POLR2A	chr11:3860236-3863236	GM19099	blood:	n/a	n/a
8	MXI1	chr11:3861211-3863386	IMR90	lung:	n/a	n/a
9	YY1	chr11:3861727-3862271	K562	blood:	n/a	chr11:3862149-3862163 chr11:3862044-3862058 chr11:3862099-3862110 chr11:3862015-3862029 chr11:3862152-3862161 chr11:3862155-3862169 chr11:3862102-3862116
10	POLR2A	chr11:3861609-3863110	K562	blood:	n/a	n/a
11	POLR2A	chr11:3861430-3863109	GM19193	blood:	n/a	n/a
12	POLR2A	chr11:3861378-3863162	GM12878	blood:	n/a	n/a
13	ZBTB7A	chr11:3861714-3863113	K562	blood:	n/a	chr11:3862844-3862853 chr11:3862852-3862861
14	POLR2A	chr11:3860418-3863213	K562	blood:	n/a	n/a
15	RUNX3	chr11:3861298-3861785	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:3857975-3863299	HL-60	blood:	n/a	n/a
17	POLR2A	chr11:3861533-3863123	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:3860287-3863076	GM12878	blood:	n/a	n/a
19	MAZ	chr11:3861723-3863159	Hela-S3	cervix:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
20	POLR2A	chr11:3860378-3863540	Raji	blood:	n/a	n/a
21	SIN3A	chr11:3861443-3862090	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:3860026-3862201	GM12878	blood:	n/a	n/a
23	CHD1	chr11:3861310-3862162	GM12878	blood:	n/a	chr11:3862080-3862090 chr11:3861719-3861726
24	POLR2A	chr11:3861325-3863142	K562	blood:	n/a	n/a
25	TBL1XR1	chr11:3861453-3862205	GM12878	blood:	n/a	n/a
26	SIN3AK20	chr11:3861503-3862325	K562	blood:	n/a	n/a
27	POLR2A	chr11:3861416-3863167	GM12892	blood:	n/a	n/a
28	SIN3AK20	chr11:3861520-3861809	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr11:3861397-3863176	GM18505	blood:	n/a	n/a
30	MTA3	chr11:3858135-3861988	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:3861679-3863318	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr11:3861587-3861788	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:3861407-3863114	GM18951	blood:	n/a	n/a
34	MAZ	chr11:3861386-3863176	K562	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
35	MAX	chr11:3861709-3862236	K562	blood:	n/a	chr11:3862016-3862026
36	POLR2A	chr11:3861739-3863209	PFSK-1	brain:	n/a	n/a
37	UBTF	chr11:3860407-3863182	K562	blood:	n/a	n/a
38	POLR2A	chr11:3860169-3861984	PBDE	blood:	n/a	n/a
39	POLR2A	chr11:3861734-3863195	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:3857977-3863208	HL-60	blood:	n/a	n/a
41	JUN	chr11:3858796-3863593	K562	blood:	n/a	chr11:3862182-3862191
42	POLR2A	chr11:3861412-3863179	NB4	blood:	n/a	n/a
43	POLR2A	chr11:3861530-3863022	K562	blood:	n/a	n/a
44	POLR2A	chr11:3858204-3863267	GM12891	blood:	n/a	n/a
45	HA-E2F1	chr11:3861617-3863103	Hela-S3	cervix:	n/a	chr11:3862156-3862166 chr11:3862512-3862519 chr11:3862811-3862820 chr11:3862153-3862163 chr11:3861719-3861726 chr11:3862299-3862308
46	POLR2A	chr11:3861626-3862290	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:3861378-3863133	GM12878	blood:	n/a	n/a
48	ELF1	chr11:3861400-3863140	GM12878	blood:	n/a	chr11:3862158-3862167 chr11:3862017-3862029 chr11:3862732-3862744 chr11:3862135-3862147
49	POLR2A	chr11:3860128-3863118	K562	blood:	n/a	n/a
50	STAT3	chr11:3861616-3861791	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3861567..3862305-chr16:8962537..8963094,2	Hela-S3	cervix:
2	chr11:3861720..3863854-chr11:3876323..3877978,2	MCF-7	breast:
3	chr11:3858623..3864245-chr11:3874959..3879217,11	K562	blood:
4	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
5	chr11:3817048..3820526-chr11:3859691..3864703,8	K562	blood:
6	chr11:3857497..3860664-chr11:3860718..3863734,5	MCF-7	breast:
7	chr11:3861261..3864016-chr11:3874431..3876289,3	MCF-7	breast:
8	chr11:3860690..3862593-chr11:4116069..4117581,2	MCF-7	breast:
9	chr11:3842483..3845464-chr11:3861552..3863945,2	MCF-7	breast:
10	chr11:3827764..3831807-chr11:3860648..3864124,7	K562	blood:
11	chr11:3861239..3864353-chr11:4095380..4099458,3	MCF-7	breast:
12	chr11:3860189..3865275-chr11:3872883..3879283,10	K562	blood:
13	chr11:3829046..3832201-chr11:3860687..3864518,3	MCF-7	breast:
14	chr11:3861564..3863892-chr11:4106134..4108924,2	MCF-7	breast:

Variant related genes	Relation type
RHOG	TF binding region
ENSG00000228661	Chromatin interaction
ENSG00000167325	Chromatin interaction
ENSG00000148985	Chromatin interaction
ENSG00000110713	Chromatin interaction
ENSG00000153048	Chromatin interaction
ENSG00000167323	Chromatin interaction
ENSG00000229368	Chromatin interaction
ENSG00000177105	Chromatin interaction
ENSG00000263421	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3855200-3862000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:3857800-3861800	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr11:3858200-3861800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:3858200-3861800	Enhancers	Fetal Heart	heart
5	chr11:3858200-3862000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:3858600-3861800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:3859200-3862000	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr11:3859800-3861800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:3859800-3861800	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr11:3860200-3861800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:3860400-3862800	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr11:3860400-3863000	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr11:3860400-3863000	Active TSS	Thymus	Thymus
14	chr11:3860400-3863000	Active TSS	GM12878-XiMat	blood
15	chr11:3860600-3861800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:3860600-3861800	Flanking Active TSS	Liver	Liver
17	chr11:3860600-3861800	Flanking Active TSS	NH-A	brain
18	chr11:3860600-3862800	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:3860600-3863000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:3860600-3863000	Active TSS	Primary monocytes fromperipheralblood	blood
21	chr11:3860600-3863000	Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:3860600-3863000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:3860600-3863000	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr11:3860600-3863000	Active TSS	Left Ventricle	heart
25	chr11:3860600-3863000	Active TSS	Right Atrium	heart
26	chr11:3860600-3863000	Active TSS	HSMM	muscle
27	chr11:3860600-3863000	Active TSS	NHLF	lung
28	chr11:3860600-3863200	Active TSS	Colonic Mucosa	Colon
29	chr11:3860800-3861800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:3860800-3861800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr11:3860800-3861800	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr11:3860800-3861800	Flanking Active TSS	Fetal Brain Female	brain
33	chr11:3860800-3861800	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr11:3860800-3861800	Flanking Active TSS	Placenta	Placenta
35	chr11:3860800-3861800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr11:3860800-3863200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr11:3861000-3861800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:3861000-3862800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:3861000-3863200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr11:3861200-3861800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:3861200-3862600	Active TSS	Spleen	Spleen
42	chr11:3861200-3862800	Active TSS	Primary T cells fromperipheralblood	blood
43	chr11:3861200-3863000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:3861200-3863000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr11:3861200-3863000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr11:3861200-3863000	Active TSS	Gastric	stomach
47	chr11:3861200-3863000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:3861200-3863000	Active TSS	Right Ventricle	heart
49	chr11:3861200-3863000	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr11:3861200-3863000	Active TSS	HSMMtube	muscle

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