Variant report

Variant	rs545730367
Chromosome Location	chr11:57416217-57416218
allele	A/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	STAT5A	chr11:57415530-57416257	K562	blood:	n/a	chr11:57415624-57415636
2	POLR2A	chr11:57415752-57418166	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:57416150-57418100	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:57411937-57420676	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
6	UBTF	chr11:57415686-57416336	K562	blood:	n/a	n/a
7	PBX3	chr11:57414093-57418151	SK-N-SH	brain:	n/a	chr11:57415576-57415585
8	POLR2A	chr11:57412052-57419760	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
10	CREB1	chr11:57415543-57416225	K562	blood:	n/a	n/a
11	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:57412821-57416389	HUVEC	blood vessel:	n/a	n/a
13	SIN3A	chr11:57413866-57417706	H1-hESC	embryonic stem cell:	n/a	chr11:57414716-57414729 chr11:57416870-57416883 chr11:57415091-57415101 chr11:57417329-57417340
14	REST	chr11:57415812-57418215	H1-neurons	neurons:	n/a	chr11:57416867-57416880 chr11:57416879-57416892 chr11:57415863-57415871 chr11:57417025-57417038 chr11:57416863-57416883
15	GATA1	chr11:57414768-57416490	PBDE	blood:	n/a	chr11:57415466-57415477 chr11:57414866-57414875 chr11:57416312-57416320
16	POLR2A	chr11:57411926-57416336	HUVEC	blood vessel:	n/a	n/a
17	MXI1	chr11:57415474-57416980	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr11:57415461-57416240	K562	blood:	n/a	n/a
19	GATA2	chr11:57415659-57416327	K562	blood:	n/a	chr11:57416312-57416320
20	POLR2A	chr11:57415199-57417266	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:57411980-57417263	H1-hESC	embryonic stem cell:	n/a	n/a
22	GATA1	chr11:57415371-57417473	K562	blood:	n/a	chr11:57417416-57417425 chr11:57416594-57416602 chr11:57415466-57415477 chr11:57416312-57416320
23	POLR2A	chr11:57414138-57417886	ProgFib	skin:	n/a	n/a
24	POLR2A	chr11:57415863-57417166	SK-N-SH	brain:	n/a	n/a
25	USF2	chr11:57414128-57417940	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:57404802-57417187	SK-N-MC	brain:	n/a	n/a
27	TAL1	chr11:57415504-57416326	K562	blood:	n/a	n/a
28	POLR2A	chr11:57412040-57416702	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr11:57411922-57418069	SK-N-SH	brain:	n/a	n/a
30	CREB1	chr11:57416144-57417782	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF12	chr11:57415624-57417063	A549	lung:	n/a	chr11:57415995-57416002
32	ATF2	chr11:57415861-57417283	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP4	chr11:57415765-57416345	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr11:57413968-57418190	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:57412961-57418210	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:57415819-57416436	Gliobla	brain:	n/a	n/a
37	PBX3	chr11:57414226-57416231	A549	lung:	n/a	chr11:57415576-57415585
38	PBX3	chr11:57414362-57416288	A549	lung:	n/a	chr11:57415576-57415585
39	POLR2A	chr11:57413929-57416256	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr11:57412201-57418679	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr11:57415575-57416358	K562	blood:	n/a	n/a
42	POLR2A	chr11:57410100-57417938	PBDE	blood:	n/a	n/a
43	POLR2A	chr11:57415809-57416327	A549	lung:	n/a	n/a
44	POLR2A	chr11:57414193-57418271	A549	lung:	n/a	n/a
45	CBX3	chr11:57415522-57416232	K562	blood:	n/a	n/a
46	TEAD4	chr11:57415387-57416357	K562	blood:	n/a	n/a
47	POLR2A	chr11:57415349-57416292	HUVEC	blood vessel:	n/a	n/a
48	CTBP2	chr11:57415650-57417186	H1-hESC	embryonic stem cell:	n/a	n/a
49	RUNX3	chr11:57415906-57416302	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:57412737-57417005	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57114064..57115685-chr11:57415196..57416779,2	K562	blood:
2	chr11:57415844..57417828-chr11:57434244..57436938,3	K562	blood:
3	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:
4	chr11:57325867..57327995-chr11:57414658..57417368,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YPEL4-1	chr11:57415933-57416256	NONHSAT021431

Variant related genes	Relation type
CLP1	TF binding region
YPEL4	TF binding region
ENSG00000254602	TF binding region
ENSG00000172409	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000109991	Chromatin interaction
ENSG00000156587	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57412200-57416400	Bivalent Enhancer	Fetal Intestine Large	intestine
2	chr11:57412200-57416800	Enhancers	Lung	lung
3	chr11:57412200-57416800	Enhancers	Spleen	Spleen
4	chr11:57412200-57417000	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr11:57413000-57416400	Enhancers	Right Ventricle	heart
6	chr11:57413000-57416800	Bivalent Enhancer	NH-A	brain
7	chr11:57413200-57416600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:57413200-57417400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:57413400-57416600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr11:57413600-57416400	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr11:57413600-57417800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr11:57413600-57417800	Enhancers	Pancreas	Pancrea
13	chr11:57413600-57418200	Enhancers	HMEC	breast
14	chr11:57413800-57416800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:57414200-57416600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:57414200-57416600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:57414200-57416600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr11:57414200-57416800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:57414200-57417000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:57414200-57417200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:57414200-57417200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:57414200-57417200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:57414400-57416400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr11:57414400-57416600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:57414600-57416400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
26	chr11:57414800-57416400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:57414800-57416600	Bivalent Enhancer	NHDF-Ad	bronchial
28	chr11:57415200-57416600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:57415200-57416600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:57415200-57418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:57415400-57416400	Bivalent Enhancer	Esophagus	oesophagus
32	chr11:57415400-57416400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr11:57415400-57416600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:57415400-57416600	Bivalent Enhancer	Fetal Kidney	kidney
35	chr11:57415400-57416800	Bivalent Enhancer	Left Ventricle	heart
36	chr11:57415400-57417200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:57415400-57417200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
38	chr11:57415400-57417200	Flanking Active TSS	HSMM	muscle
39	chr11:57415400-57417200	Flanking Active TSS	HSMMtube	muscle
40	chr11:57415400-57418000	Enhancers	Gastric	stomach
41	chr11:57415600-57416400	Flanking Active TSS	Fetal Brain Female	brain
42	chr11:57415600-57416600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr11:57415600-57416600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr11:57415600-57416600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:57415600-57416600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
46	chr11:57415600-57416600	Flanking Bivalent TSS/Enh	Osteobl	bone
47	chr11:57415600-57416800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:57415600-57417000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
49	chr11:57415600-57417000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:57415600-57417200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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