Variant report

Variant	rs111508159
Chromosome Location	chr11:57417620-57417621
allele	C/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	chr11:57417331-57417674	GM12878	blood:	n/a	chr11:57417417-57417426
2	POLR2A	chr11:57417412-57417680	A549	lung:	n/a	n/a
3	NRF1	chr11:57417471-57418095	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:57415752-57418166	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:57416150-57418100	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr11:57411937-57420676	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr11:57417321-57417694	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr11:57417301-57417796	Gliobla	brain:	n/a	n/a
10	ATF2	chr11:57417296-57418126	H1-hESC	embryonic stem cell:	n/a	n/a
11	PBX3	chr11:57414093-57418151	SK-N-SH	brain:	n/a	chr11:57415576-57415585
12	MAZ	chr11:57417332-57417781	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	FOXP2	chr11:57417277-57417702	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:57417269-57417727	A549	lung:	n/a	n/a
23	POLR2A	chr11:57417265-57420354	H1-hESC	embryonic stem cell:	n/a	n/a
24	PBX3	chr11:57416315-57417960	A549	lung:	n/a	n/a
25	POLR2A	chr11:57414138-57417886	ProgFib	skin:	n/a	n/a
26	SP4	chr11:57417289-57417758	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr11:57417143-57417674	K562	blood:	n/a	n/a
28	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
29	USF2	chr11:57414128-57417940	H1-hESC	embryonic stem cell:	n/a	n/a
30	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
31	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
32	POLR2A	chr11:57417279-57417992	SK-N-SH	brain:	n/a	n/a
33	TEAD4	chr11:57417366-57417792	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:57411922-57418069	SK-N-SH	brain:	n/a	n/a
35	CREB1	chr11:57416144-57417782	H1-hESC	embryonic stem cell:	n/a	n/a
36	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
37	POLR2A	chr11:57417301-57417898	HUVEC	blood vessel:	n/a	n/a
38	CREB1	chr11:57416518-57417871	H1-hESC	embryonic stem cell:	n/a	n/a
39	BCL3	chr11:57417230-57417745	A549	lung:	n/a	n/a
40	EP300	chr11:57417297-57417643	SK-N-SH_RA	brain:	n/a	chr11:57417326-57417342 chr11:57417417-57417426
41	ELF1	chr11:57417308-57417775	A549	lung:	n/a	n/a
42	MAZ	chr11:57416322-57418147	IMR90	lung:	n/a	chr11:57417022-57417032
43	POLR2A	chr11:57417299-57417664	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr11:57417075-57418089	U87	brain:	n/a	n/a
45	CHD2	chr11:57413968-57418190	H1-hESC	embryonic stem cell:	n/a	n/a
46	FOSL2	chr11:57417284-57417694	A549	lung:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
47	POLR2A	chr11:57412961-57418210	MCF10A-Er-Src	breast:	n/a	n/a
48	JUND	chr11:57416476-57417725	K562	blood:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417416-57417427 chr11:57417414-57417425
49	POLR2A	chr11:57412201-57418679	ECC-1	luminal epithelium:	n/a	n/a
50	FOSL1	chr11:57417244-57417622	K562	blood:	n/a	chr11:57417418-57417427 chr11:57417416-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425

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:120 , 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	chr11:57416000-57417800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:57416000-57417800	Transcr. at gene 5' and 3'	Right Atrium	heart
8	chr11:57416200-57417800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr11:57416200-57417800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
10	chr11:57416200-57418400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:57416600-57418000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
12	chr11:57416600-57418200	Bivalent Enhancer	Fetal Heart	heart
13	chr11:57416800-57417800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr11:57417000-57417800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:57417000-57417800	Enhancers	Spleen	Spleen
16	chr11:57417200-57417800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:57417200-57417800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:57417200-57417800	Bivalent Enhancer	Placenta	Placenta
19	chr11:57417200-57417800	Bivalent Enhancer	Left Ventricle	heart
20	chr11:57417200-57417800	Enhancers	Lung	lung
21	chr11:57417200-57417800	Enhancers	HSMMtube	muscle
22	chr11:57417200-57418000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr11:57417200-57418000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:57417200-57418000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:57417200-57418000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr11:57417200-57418000	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr11:57417200-57418000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:57417200-57418000	Bivalent Enhancer	HUVEC	blood vessel
29	chr11:57417200-57418200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:57417200-57418200	Bivalent Enhancer	Fetal Thymus	thymus
31	chr11:57417200-57418600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr11:57417200-57418600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr11:57417200-57418600	Enhancers	K562	blood
34	chr11:57417400-57417800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:57417400-57417800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:57417400-57417800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr11:57417400-57417800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:57417400-57417800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:57417400-57417800	Enhancers	Aorta	Aorta
40	chr11:57417400-57417800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr11:57417400-57417800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr11:57417400-57417800	Flanking Bivalent TSS/Enh	Dnd41	blood
43	chr11:57417400-57418000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:57417400-57418000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:57417400-57418000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:57417400-57418000	Bivalent Enhancer	Fetal Intestine Large	intestine
47	chr11:57417400-57418200	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr11:57417400-57418400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:57417400-57418800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:57417600-57417800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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