Variant report

Variant	rs560875737
Chromosome Location	chr11:57417445-57417446
allele	C/G
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	chr11:57417331-57417674	GM12878	blood:	n/a	chr11:57417417-57417426
2	POLR2A	chr11:57417412-57417680	A549	lung:	n/a	n/a
3	POLR2A	chr11:57415752-57418166	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:57416150-57418100	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:57411937-57420676	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr11:57417321-57417694	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr11:57417301-57417796	Gliobla	brain:	n/a	n/a
9	ATF2	chr11:57417296-57418126	H1-hESC	embryonic stem cell:	n/a	n/a
10	PBX3	chr11:57414093-57418151	SK-N-SH	brain:	n/a	chr11:57415576-57415585
11	MAZ	chr11:57417332-57417781	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:57417353-57417482	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:57412052-57419760	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
15	JUND	chr11:57416585-57417711	H1-hESC	embryonic stem cell:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417416-57417427 chr11:57417414-57417425
16	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3A	chr11:57413866-57417706	H1-hESC	embryonic stem cell:	n/a	chr11:57414716-57414729 chr11:57416870-57416883 chr11:57415091-57415101 chr11:57417329-57417340
18	REST	chr11:57415812-57418215	H1-neurons	neurons:	n/a	chr11:57416867-57416880 chr11:57416879-57416892 chr11:57415863-57415871 chr11:57417025-57417038 chr11:57416863-57416883
19	ATF2	chr11:57417297-57418086	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr11:57417420-57417930	PFSK-1	brain:	n/a	n/a
21	RCOR1	chr11:57417314-57417552	K562	blood:	n/a	n/a
22	FOS	chr11:57417245-57417582	MCF10A-Er-Src	breast:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
23	FOXP2	chr11:57417277-57417702	PFSK-1	brain:	n/a	n/a
24	EP300	chr11:57417320-57417534	K562	blood:	n/a	chr11:57417326-57417342 chr11:57417417-57417426
25	CREB1	chr11:57417293-57417608	A549	lung:	n/a	n/a
26	POLR2A	chr11:57417269-57417727	A549	lung:	n/a	n/a
27	POLR2A	chr11:57417265-57420354	H1-hESC	embryonic stem cell:	n/a	n/a
28	PBX3	chr11:57416315-57417960	A549	lung:	n/a	n/a
29	JUND	chr11:57416443-57417601	GM12878	blood:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417416-57417427 chr11:57417414-57417425
30	GATA1	chr11:57415371-57417473	K562	blood:	n/a	chr11:57417416-57417425 chr11:57416594-57416602 chr11:57415466-57415477 chr11:57416312-57416320
31	POLR2A	chr11:57414138-57417886	ProgFib	skin:	n/a	n/a
32	SP4	chr11:57417289-57417758	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr11:57417143-57417674	K562	blood:	n/a	n/a
34	YY1	chr11:57417428-57417552	K562	blood:	n/a	n/a
35	JUN	chr11:57417239-57417624	K562	blood:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
36	USF2	chr11:57414128-57417940	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr11:57417315-57417644	H1-hESC	embryonic stem cell:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417416-57417427 chr11:57417414-57417425
38	JUN	chr11:57417355-57417555	H1-hESC	embryonic stem cell:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
39	EGR1	chr11:57417300-57417578	K562	blood:	n/a	chr11:57417436-57417451
40	JUN	chr11:57417216-57417644	K562	blood:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
41	POLR2A	chr11:57417279-57417992	SK-N-SH	brain:	n/a	n/a
42	FOS	chr11:57417360-57417503	MCF10A-Er-Src	breast:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
43	TEAD4	chr11:57417366-57417792	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:57411922-57418069	SK-N-SH	brain:	n/a	n/a
45	CREB1	chr11:57416144-57417782	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr11:57417262-57417793	A549	lung:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417416-57417427 chr11:57417414-57417425
47	JUND	chr11:57417300-57417528	HepG2	liver:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417416-57417427 chr11:57417414-57417425
48	POLR2A	chr11:57417301-57417898	HUVEC	blood vessel:	n/a	n/a
49	CREB1	chr11:57416518-57417871	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF143	chr11:57416277-57417619	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57416509..57419295-chr11:57509568..57512318,2	K562	blood:
2	chr11:57415844..57417828-chr11:57434244..57436938,3	K562	blood:
3	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:
4	chr11:57417074..57418991-chr11:57424889..57426673,2	K562	blood:

Variant related genes	Relation type
YPEL4	TF binding region
ENSG00000172409	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000254732	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers 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	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS 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	87 gene(s)	inside rSNPs	diseases
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
8	esv3425337	chr11:57416201-57418749	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3417959	chr11:57416576-57418524	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57413600-57417800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr11:57413600-57417800	Enhancers	Pancreas	Pancrea
3	chr11:57413600-57418200	Enhancers	HMEC	breast
4	chr11:57415200-57418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:57415400-57418000	Enhancers	Gastric	stomach
6	chr11:57416000-57417600	Active TSS	Brain Angular Gyrus	brain
7	chr11:57416000-57417800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:57416000-57417800	Transcr. at gene 5' and 3'	Right Atrium	heart
9	chr11:57416200-57417600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:57416200-57417600	Active TSS	Fetal Brain Male	brain
11	chr11:57416200-57417800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr11:57416200-57417800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
13	chr11:57416200-57418400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:57416400-57417600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:57416400-57417600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:57416600-57417600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:57416600-57417600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:57416600-57417600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:57416600-57417600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:57416600-57417600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:57416600-57417600	Active TSS	Brain Cingulate Gyrus	brain
22	chr11:57416600-57417600	Active TSS	Brain Substantia Nigra	brain
23	chr11:57416600-57417600	Active TSS	Ovary	ovary
24	chr11:57416600-57417600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr11:57416600-57417600	Active TSS	A549	lung
26	chr11:57416600-57418000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
27	chr11:57416600-57418200	Bivalent Enhancer	Fetal Heart	heart
28	chr11:57416800-57417600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr11:57416800-57417600	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr11:57416800-57417600	Active TSS	Brain Hippocampus Middle	brain
31	chr11:57416800-57417800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr11:57417000-57417600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:57417000-57417600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:57417000-57417600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:57417000-57417600	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:57417000-57417600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:57417000-57417600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:57417000-57417600	Active TSS	Brain Anterior Caudate	brain
39	chr11:57417000-57417600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:57417000-57417600	Active TSS	Fetal Brain Female	brain
41	chr11:57417000-57417600	Enhancers	Fetal Lung	lung
42	chr11:57417000-57417600	Active TSS	NHDF-Ad	bronchial
43	chr11:57417000-57417800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:57417000-57417800	Enhancers	Spleen	Spleen
45	chr11:57417200-57417600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:57417200-57417600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:57417200-57417600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr11:57417200-57417600	Bivalent Enhancer	Primary B cells from cord blood	blood
49	chr11:57417200-57417600	Enhancers	Primary T cells from cord blood	blood
50	chr11:57417200-57417600	Active TSS	Primary hematopoietic stem cells	blood

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