Variant report

Variant	rs556886946
Chromosome Location	chr11:65407852-65407853
allele	G/T
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	EP300	chr11:65407024-65408168	GM12878	blood:	n/a	n/a
2	ELF1	chr11:65407422-65408347	GM12878	blood:	n/a	n/a
3	RELA	chr11:65407101-65407877	GM18951	blood:	n/a	n/a
4	NR3C1	chr11:65407617-65408009	A549	lung:	n/a	chr11:65407871-65407885 chr11:65407871-65407885 chr11:65407870-65407886 chr11:65407746-65407764 chr11:65407870-65407886
5	MTA3	chr11:65407000-65408169	GM12878	blood:	n/a	n/a
6	STAT5A	chr11:65406924-65408527	GM12878	blood:	n/a	chr11:65407702-65407709
7	NR3C1	chr11:65407717-65407973	A549	lung:	n/a	chr11:65407871-65407885 chr11:65407871-65407885 chr11:65407870-65407886 chr11:65407746-65407764 chr11:65407870-65407886
8	NFATC1	chr11:65407020-65407864	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:65407024-65407875	GM12891	blood:	n/a	n/a
10	SP1	chr11:65407650-65407980	GM12878	blood:	n/a	chr11:65407843-65407853 chr11:65407842-65407854 chr11:65407659-65407673 chr11:65407839-65407853
11	MAX	chr11:65407103-65408438	NB4	blood:	n/a	chr11:65407843-65407853 chr11:65407751-65407761 chr11:65408285-65408295
12	CHD1	chr11:65407170-65408141	GM12878	blood:	n/a	n/a
13	EBF1	chr11:65406946-65408314	GM12878	blood:	n/a	chr11:65407865-65407874 chr11:65407820-65407831 chr11:65407865-65407875 chr11:65407864-65407875 chr11:65407822-65407831
14	FOXM1	chr11:65407013-65408295	GM12878	blood:	n/a	n/a
15	ZNF143	chr11:65407752-65407931	GM12878	blood:	n/a	n/a
16	EBF1	chr11:65406995-65408837	GM12878	blood:	n/a	chr11:65407865-65407874 chr11:65407820-65407831 chr11:65407865-65407875 chr11:65407864-65407875 chr11:65407822-65407831
17	BCLAF1	chr11:65407022-65408134	GM12878	blood:	n/a	n/a
18	BCL11A	chr11:65407663-65407958	GM12878	blood:	n/a	n/a
19	NFIC	chr11:65407030-65408155	GM12878	blood:	n/a	n/a
20	NRF1	chr11:65407210-65407898	GM12878	blood:	n/a	n/a
21	PML	chr11:65406821-65408312	GM12878	blood:	n/a	n/a
22	PAX5	chr11:65407750-65407977	GM12878	blood:	n/a	n/a
23	RUNX3	chr11:65407034-65408591	GM12878	blood:	n/a	n/a
24	EP300	chr11:65407724-65408023	GM12878	blood:	n/a	n/a
25	MYC	chr11:65407626-65407935	GM12878	blood:	n/a	chr11:65407843-65407853 chr11:65407751-65407761
26	WRNIP1	chr11:65407782-65408359	GM12878	blood:	n/a	n/a
27	PAX5	chr11:65406909-65408391	GM12878	blood:	n/a	n/a
28	BHLHE40	chr11:65406999-65408049	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:65406836-65409035	GM12892	blood:	n/a	n/a
30	MAX	chr11:65407074-65408048	GM12878	blood:	n/a	chr11:65407843-65407853 chr11:65407751-65407761
31	ELF1	chr11:65407022-65409231	GM12878	blood:	n/a	n/a
32	GABPA	chr11:65407583-65408515	HL-60	blood:	n/a	chr11:65408176-65408183
33	POLR2A	chr11:65406766-65408485	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:65406943-65408309	GM12878	blood:	n/a	n/a
35	CUX1	chr11:65407684-65407962	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:65406983-65408265	GM12892	blood:	n/a	n/a
37	FOXM1	chr11:65406988-65407863	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:65407035-65408858	HL-60	blood:	n/a	n/a
39	TBP	chr11:65407022-65408099	GM12878	blood:	n/a	n/a
40	SPI1	chr11:65407446-65408888	HL-60	blood:	n/a	chr11:65408173-65408186
41	POLR2A	chr11:65406996-65408787	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:65406884-65408329	GM12891	blood:	n/a	n/a
43	POLR2A	chr11:65406981-65408397	GM18526	blood:	n/a	n/a
44	POLR2A	chr11:65407024-65408229	GM12891	blood:	n/a	n/a
45	SPI1	chr11:65407648-65408530	GM12878	blood:	n/a	chr11:65408173-65408186
46	POU2F2	chr11:65406884-65408296	GM12878	blood:	n/a	chr11:65408122-65408134
47	POLR2A	chr11:65407498-65408062	HUVEC	blood vessel:	n/a	n/a
48	NFATC1	chr11:65406931-65408297	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:65406835-65409596	GM12892	blood:	n/a	n/a
50	PAX5	chr11:65407639-65407967	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65405500..65407998-chr11:65624581..65626384,2	K562	blood:
2	chr11:65380696..65385200-chr11:65403578..65408941,10	MCF-7	breast:
3	chr11:65406543..65408772-chr19:38780595..38783579,2	MCF-7	breast:

Variant related genes	Relation type
SIPA1	TF binding region
ENSG00000167642	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking 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 miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
4	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
6	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
8	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
9	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
12	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
14	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription 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	92 gene(s)	inside rSNPs	diseases
15	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
16	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
17	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers 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	227 gene(s)	inside rSNPs	diseases
18	nsv897746	chr11:65349756-65427346	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
19	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
20	esv1831135	chr11:65387352-65420872	Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	43 gene(s)	inside rSNPs	diseases
21	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv897749	chr11:65401748-65420760	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	39 gene(s)	inside rSNPs	diseases
23	nsv897750	chr11:65401748-65421476	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
24	nsv897751	chr11:65401748-65425167	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
25	nsv897752	chr11:65405300-65421476	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
26	nsv897753	chr11:65405300-65422693	Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
27	nsv897754	chr11:65405300-65436888	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
28	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
29	nsv897756	chr11:65406393-65425167	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
30	nsv897757	chr11:65406393-65427568	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65405200-65409600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr11:65405200-65409600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr11:65405800-65408800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr11:65405800-65409800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:65406000-65408600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr11:65406000-65409000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr11:65406000-65409200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:65406000-65409800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr11:65406200-65408200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr11:65406200-65408200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr11:65406200-65408600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr11:65406200-65408800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr11:65406200-65408800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:65406200-65409600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:65406200-65409600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr11:65406400-65408000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr11:65406400-65408200	Enhancers	Pancreas	Pancrea
18	chr11:65406400-65409000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:65406400-65409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:65406400-65409400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:65406400-65409400	Weak transcription	Fetal Brain Female	brain
22	chr11:65406400-65413000	Weak transcription	Fetal Heart	heart
23	chr11:65406400-65414600	Weak transcription	Ovary	ovary
24	chr11:65406400-65416800	Weak transcription	Aorta	Aorta
25	chr11:65406600-65408000	Enhancers	Right Ventricle	heart
26	chr11:65406600-65408000	Weak transcription	Small Intestine	intestine
27	chr11:65406600-65408600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:65406600-65408600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:65406600-65408600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:65406600-65408600	Weak transcription	K562	blood
31	chr11:65406600-65408800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:65406600-65408800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:65406600-65408800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65406600-65408800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:65406600-65408800	Weak transcription	Fetal Lung	lung
36	chr11:65406600-65409000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:65406600-65409000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:65406600-65409000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:65406600-65409000	Weak transcription	Brain Angular Gyrus	brain
40	chr11:65406600-65409200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:65406600-65409200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:65406600-65409200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:65406600-65409200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:65406600-65409200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:65406600-65409200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:65406600-65409200	Weak transcription	Fetal Intestine Large	intestine
47	chr11:65406600-65409400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:65406600-65409400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:65406600-65409400	Weak transcription	Brain Germinal Matrix	brain
50	chr11:65406600-65409600	Enhancers	Left Ventricle	heart

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