Variant report

Variant	rs537989831
Chromosome Location	chr11:57416823-57416824
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	POLR2A	chr11:57416431-57417230	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:57415752-57418166	H1-neurons	neurons:	n/a	n/a
3	MAX	chr11:57416629-57416841	GM12878	blood:	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	TAF1	chr11:57416630-57417271	H1-neurons	neurons:	n/a	n/a
8	PBX3	chr11:57414093-57418151	SK-N-SH	brain:	n/a	chr11:57415576-57415585
9	POLR2A	chr11:57412052-57419760	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
11	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
12	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	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	MXI1	chr11:57415474-57416980	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr11:57416606-57417175	H1-hESC	embryonic stem cell:	n/a	chr11:57417022-57417032
17	TAF1	chr11:57416394-57417221	PFSK-1	brain:	n/a	n/a
18	PBX3	chr11:57416315-57417960	A549	lung:	n/a	n/a
19	POLR2A	chr11:57415199-57417266	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:57411980-57417263	H1-hESC	embryonic stem cell:	n/a	n/a
21	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
22	GATA1	chr11:57415371-57417473	K562	blood:	n/a	chr11:57417416-57417425 chr11:57416594-57416602 chr11:57415466-57415477 chr11:57416312-57416320
23	MAZ	chr11:57416514-57417076	GM12878	blood:	n/a	chr11:57417022-57417032
24	BHLHE40	chr11:57416593-57416848	K562	blood:	n/a	n/a
25	POLR2A	chr11:57414138-57417886	ProgFib	skin:	n/a	n/a
26	POLR2A	chr11:57415863-57417166	SK-N-SH	brain:	n/a	n/a
27	USF2	chr11:57414128-57417940	H1-hESC	embryonic stem cell:	n/a	n/a
28	PBX3	chr11:57416460-57416941	A549	lung:	n/a	n/a
29	POLR2A	chr11:57404802-57417187	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr11:57416437-57417097	PANC-1	pancreas:	n/a	n/a
31	MXI1	chr11:57416443-57417001	GM12878	blood:	n/a	n/a
32	SREBP1	chr11:57416427-57417248	GM12878	blood:	n/a	n/a
33	TEAD4	chr11:57416594-57417168	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:57411922-57418069	SK-N-SH	brain:	n/a	n/a
35	SIN3AK20	chr11:57416546-57417042	SK-N-SH	brain:	n/a	n/a
36	CREB1	chr11:57416144-57417782	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF12	chr11:57415624-57417063	A549	lung:	n/a	chr11:57415995-57416002
38	NRF1	chr11:57416626-57417131	H1-hESC	embryonic stem cell:	n/a	n/a
39	EP300	chr11:57416615-57416904	GM12878	blood:	n/a	chr11:57416753-57416767
40	ATF2	chr11:57415861-57417283	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr11:57416518-57417871	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF143	chr11:57416277-57417619	H1-hESC	embryonic stem cell:	n/a	n/a
43	RUNX3	chr11:57416702-57416960	GM12878	blood:	n/a	n/a
44	JUND	chr11:57416539-57417158	A549	lung:	n/a	n/a
45	MAZ	chr11:57416322-57418147	IMR90	lung:	n/a	chr11:57417022-57417032
46	MAX	chr11:57416415-57417203	H1-hESC	embryonic stem cell:	n/a	chr11:57417022-57417032
47	CHD2	chr11:57413968-57418190	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:57412961-57418210	MCF10A-Er-Src	breast:	n/a	n/a
49	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
50	POLR2A	chr11:57412201-57418679	ECC-1	luminal epithelium:	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	chr11:57325867..57327995-chr11:57414658..57417368,2	K562	blood:

Variant related genes	Relation type
YPEL4	TF binding region
ENSG00000172409	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000254732	Chromatin interaction
ENSG00000156587	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57412200-57417000	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr11:57413200-57417400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:57413600-57417800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr11:57413600-57417800	Enhancers	Pancreas	Pancrea
5	chr11:57413600-57418200	Enhancers	HMEC	breast
6	chr11:57414200-57417000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:57414200-57417200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:57414200-57417200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr11:57414200-57417200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:57415200-57418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:57415400-57417200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:57415400-57417200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
13	chr11:57415400-57417200	Flanking Active TSS	HSMM	muscle
14	chr11:57415400-57417200	Flanking Active TSS	HSMMtube	muscle
15	chr11:57415400-57418000	Enhancers	Gastric	stomach
16	chr11:57415600-57417000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
17	chr11:57415600-57417000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:57415600-57417200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:57415600-57417200	Flanking Active TSS	K562	blood
20	chr11:57415800-57417000	Flanking Bivalent TSS/Enh	Thymus	Thymus
21	chr11:57415800-57417200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
22	chr11:57415800-57417200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
23	chr11:57416000-57417000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:57416000-57417200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:57416000-57417200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr11:57416000-57417200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
27	chr11:57416000-57417400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:57416000-57417600	Active TSS	Brain Angular Gyrus	brain
29	chr11:57416000-57417800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:57416000-57417800	Transcr. at gene 5' and 3'	Right Atrium	heart
31	chr11:57416200-57417000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:57416200-57417000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
33	chr11:57416200-57417000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
34	chr11:57416200-57417200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:57416200-57417200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:57416200-57417200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
37	chr11:57416200-57417200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
38	chr11:57416200-57417200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr11:57416200-57417200	Flanking Bivalent TSS/Enh	Placenta	Placenta
40	chr11:57416200-57417200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
41	chr11:57416200-57417400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:57416200-57417600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:57416200-57417600	Active TSS	Fetal Brain Male	brain
44	chr11:57416200-57417800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr11:57416200-57417800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
46	chr11:57416200-57418400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr11:57416400-57417000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:57416400-57417000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
49	chr11:57416400-57417000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:57416400-57417000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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