Variant report

Variant	rs560380966
Chromosome Location	chr11:57298211-57298212
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	GATA3	chr11:57298062-57298601	T-47D	breast:	n/a	n/a
2	SPI1	chr11:57297984-57298663	HL-60	blood:	n/a	chr11:57298352-57298359
3	TCF12	chr11:57297998-57298861	ECC-1	luminal epithelium:	n/a	n/a
4	YY1	chr11:57297680-57298217	K562	blood:	n/a	n/a
5	ELF1	chr11:57297928-57298561	A549	lung:	n/a	chr11:57298231-57298244 chr11:57298233-57298242 chr11:57298232-57298243
6	BCLAF1	chr11:57298032-57298928	K562	blood:	n/a	n/a
7	PML	chr11:57297868-57299388	K562	blood:	n/a	n/a
8	E2F6	chr11:57298054-57298470	K562	blood:	n/a	chr11:57298337-57298347
9	MAX	chr11:57297708-57298799	ECC-1	luminal epithelium:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
10	MXI1	chr11:57297693-57298783	HepG2	liver:	n/a	chr11:57298222-57298231
11	SIN3AK20	chr11:57298027-57298380	K562	blood:	n/a	n/a
12	POLR2A	chr11:57297465-57298915	SK-N-MC	brain:	n/a	n/a
13	E2F6	chr11:57297809-57298559	H1-hESC	embryonic stem cell:	n/a	chr11:57298337-57298347
14	SP2	chr11:57298046-57298643	K562	blood:	n/a	n/a
15	POLR2A	chr11:57297989-57298739	HUVEC	blood vessel:	n/a	n/a
16	USF2	chr11:57298038-57298303	K562	blood:	n/a	n/a
17	POLR2A	chr11:57297690-57298849	GM12892	blood:	n/a	n/a
18	ESRRA	chr11:57297365-57299876	GM12878	blood:	n/a	chr11:57297540-57297549 chr11:57299148-57299167 chr11:57298811-57298825
19	CEBPB	chr11:57298165-57298634	Hela-S3	cervix:	n/a	n/a
20	TBP	chr11:57297740-57298696	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr11:57297541-57298943	GM12878	blood:	n/a	n/a
22	MAZ	chr11:57298096-57298604	HepG2	liver:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298222-57298229
23	POLR2A	chr11:57297932-57298654	K562	blood:	n/a	n/a
24	HA-E2F1	chr11:57297973-57298716	MCF-7	breast:	n/a	chr11:57298337-57298347
25	HCFC1	chr11:57297590-57299205	Hela-S3	cervix:	n/a	n/a
26	ZNF384	chr11:57298044-57298550	GM12878	blood:	n/a	n/a
27	RCOR1	chr11:57297356-57299461	IMR90	lung:	n/a	n/a
28	RUNX3	chr11:57297714-57298698	GM12878	blood:	n/a	n/a
29	SP2	chr11:57297778-57298789	HepG2	liver:	n/a	n/a
30	ELF1	chr11:57297884-57298613	A549	lung:	n/a	chr11:57298231-57298244 chr11:57298233-57298242 chr11:57298232-57298243
31	MYC	chr11:57297270-57299072	A549	lung:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
32	POLR2A	chr11:57297566-57298714	GM12892	blood:	n/a	n/a
33	NFIC	chr11:57297861-57298552	GM12878	blood:	n/a	n/a
34	RCOR1	chr11:57297682-57298984	Hela-S3	cervix:	n/a	n/a
35	ELK4	chr11:57297833-57298518	HEK293	kidney:	n/a	chr11:57298272-57298283 chr11:57298230-57298241
36	POLR2A	chr11:57298057-57298267	A549	lung:	n/a	n/a
37	POLR2A	chr11:57297984-57298700	GM12891	blood:	n/a	n/a
38	NFIC	chr11:57297920-57298842	GM12878	blood:	n/a	n/a
39	HDAC2	chr11:57298131-57298485	K562	blood:	n/a	n/a
40	POLR2A	chr11:57297789-57299029	K562	blood:	n/a	n/a
41	ELF1	chr11:57297627-57298924	HCT-116	colon:	n/a	chr11:57298231-57298244 chr11:57298233-57298242 chr11:57298232-57298243
42	ELK1	chr11:57297905-57298729	GM12878	blood:	n/a	n/a
43	CREB1	chr11:57298068-57298622	A549	lung:	n/a	n/a
44	STAT3	chr11:57298027-57298502	MCF10A-Er-Src	breast:	n/a	n/a
45	MAX	chr11:57297851-57298637	MCF-7	breast:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
46	SP1	chr11:57298043-57298579	H1-hESC	embryonic stem cell:	n/a	chr11:57298404-57298414 chr11:57298405-57298414 chr11:57298405-57298414
47	MYC	chr11:57297795-57299112	K562	blood:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
48	ELF1	chr11:57297858-57298727	SK-N-SH	brain:	n/a	chr11:57298231-57298244 chr11:57298233-57298242 chr11:57298232-57298243
49	MAX	chr11:57298023-57298733	A549	lung:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
50	GABPA	chr11:57297858-57298652	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:
2	chr11:57279697..57283964-chr11:57296063..57300992,5	K562	blood:
3	chr11:57279377..57284601-chr11:57296598..57300992,7	K562	blood:
4	chr11:57190585..57193869-chr11:57296385..57298665,4	K562	blood:
5	chr11:57280118..57282048-chr11:57295886..57298266,2	MCF-7	breast:
6	chr11:57190585..57194081-chr11:57295965..57298665,6	K562	blood:
7	chr11:57297015..57298977-chr11:58345779..58348496,3	K562	blood:
8	chr11:57259488..57262312-chr11:57297158..57299801,2	K562	blood:
9	chr11:57296138..57298827-chr11:57479075..57481840,2	K562	blood:
10	chr11:57296719..57299374-chr11:57308110..57310728,2	K562	blood:
11	chr11:57225401..57228536-chr11:57297717..57300309,4	K562	blood:

Variant related genes	Relation type
TIMM10	TF binding region
ENSG00000254462	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000214872	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000254979	Chromatin interaction
ENSG00000213593	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr11:57297000-57299200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr11:57297200-57299000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:57297200-57299200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:57297200-57299200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:57297200-57299200	Flanking Active TSS	HUVEC	blood vessel
6	chr11:57297400-57298600	Active TSS	HSMMtube	muscle
7	chr11:57297400-57299000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:57297400-57299000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:57297400-57299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:57297400-57299200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:57297400-57299400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr11:57297400-57299400	Active TSS	A549	lung
13	chr11:57297600-57298800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:57297600-57298800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:57297600-57298800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:57297600-57298800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:57297600-57298800	Active TSS	Aorta	Aorta
18	chr11:57297600-57299000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:57297600-57299000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:57297600-57299000	Bivalent/Poised TSS	HepG2	liver
21	chr11:57297600-57299000	Active TSS	K562	blood
22	chr11:57297600-57299200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:57297600-57299200	Active TSS	Muscle Satellite Cultured Cells	--
24	chr11:57297600-57299200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:57297600-57299200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr11:57297600-57299400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:57297600-57299400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:57297800-57298600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:57297800-57298600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:57297800-57298600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:57297800-57298600	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr11:57297800-57298600	Active TSS	Hela-S3	cervix
33	chr11:57297800-57298800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:57297800-57298800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:57297800-57298800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:57297800-57298800	Active TSS	Brain Anterior Caudate	brain
37	chr11:57297800-57298800	Active TSS	Brain Cingulate Gyrus	brain
38	chr11:57297800-57298800	Active TSS	Brain Germinal Matrix	brain
39	chr11:57297800-57298800	Active TSS	Brain Hippocampus Middle	brain
40	chr11:57297800-57298800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:57297800-57298800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:57297800-57298800	Active TSS	Fetal Intestine Small	intestine
43	chr11:57297800-57298800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr11:57297800-57298800	Active TSS	Small Intestine	intestine
45	chr11:57297800-57298800	Active TSS	Thymus	Thymus
46	chr11:57297800-57298800	Active TSS	GM12878-XiMat	blood
47	chr11:57297800-57298800	Active TSS	HMEC	breast
48	chr11:57297800-57298800	Active TSS	HSMM	muscle
49	chr11:57297800-57298800	Active TSS	NH-A	brain
50	chr11:57297800-57298800	Active TSS	NHDF-Ad	bronchial

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