Variant report

Variant	rs559214431
Chromosome Location	chr11:59435392-59435393
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:59435221-59438035	SK-N-SH	brain:	n/a	n/a
2	FOXA1	chr11:59435300-59435554	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:59435050-59437612	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:59435049-59438055	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:59435252-59437646	GM12892	blood:	n/a	n/a
6	HCFC1	chr11:59435284-59437792	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:59434975-59437627	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:59435033-59437862	K562	blood:	n/a	n/a
9	POLR2A	chr11:59435129-59437299	K562	blood:	n/a	n/a
10	MXI1	chr11:59435228-59437938	IMR90	lung:	n/a	n/a
11	POLR2A	chr11:59435388-59437599	Hela-S3	cervix:	n/a	n/a
12	WRNIP1	chr11:59435110-59436125	GM12878	blood:	n/a	n/a
13	FOXA2	chr11:59435282-59435569	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:59435350-59436365	GM12892	blood:	n/a	n/a
15	GATA3	chr11:59435113-59435429	SH-SY5Y	brain:	n/a	n/a
16	POLR2A	chr11:59434984-59437954	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:59435258-59437472	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:59435280-59435481	HepG2	liver:	n/a	n/a
19	FOXA1	chr11:59435226-59435715	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:59435260-59438012	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59427010..59429204-chr11:59432808..59435498,2	MCF-7	breast:
2	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
3	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
4	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
5	chr11:59331158..59335239-chr11:59433739..59436205,3	K562	blood:
6	chr11:59331158..59335239-chr11:59432687..59436578,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255355	TF binding region
ENSG00000110048	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000255008	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv3421301	chr11:59435201-59437749	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr11:59409200-59435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:59415400-59435400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:59425600-59435600	Weak transcription	Aorta	Aorta
4	chr11:59425600-59435600	Weak transcription	Gastric	stomach
5	chr11:59425800-59435400	Weak transcription	Pancreas	Pancrea
6	chr11:59426200-59435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:59426200-59435400	Weak transcription	Esophagus	oesophagus
8	chr11:59427000-59435400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:59431800-59435400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:59433200-59435400	Weak transcription	Ovary	ovary
11	chr11:59433600-59435400	Weak transcription	Lung	lung
12	chr11:59433600-59435400	Weak transcription	Thymus	Thymus
13	chr11:59433600-59435400	Weak transcription	Spleen	Spleen
14	chr11:59433800-59435600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:59434200-59435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:59434200-59435400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:59434200-59435400	Weak transcription	Fetal Thymus	thymus
18	chr11:59434400-59435400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr11:59434400-59435400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:59434400-59435400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:59434400-59435400	Enhancers	Brain Hippocampus Middle	brain
22	chr11:59434400-59435400	Weak transcription	Placenta	Placenta
23	chr11:59434400-59435400	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr11:59434400-59435400	Active TSS	HSMMtube	muscle
25	chr11:59434400-59435400	Flanking Active TSS	NHDF-Ad	bronchial
26	chr11:59434400-59435600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:59434400-59435600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:59434400-59435600	Flanking Active TSS	Liver	Liver
29	chr11:59434400-59436000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr11:59434400-59437400	Active TSS	NHLF	lung
31	chr11:59434600-59435400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:59434600-59435400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:59434600-59435400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:59434600-59435400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr11:59434600-59435400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:59434600-59435400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr11:59434600-59435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:59434600-59435400	Enhancers	Brain Angular Gyrus	brain
39	chr11:59434600-59435400	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:59434600-59435400	Enhancers	Stomach Mucosa	stomach
41	chr11:59434600-59435800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:59434600-59435800	Flanking Active TSS	NHEK	skin
43	chr11:59434600-59435800	Flanking Active TSS	Osteobl	bone
44	chr11:59434600-59436000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr11:59434600-59436000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr11:59434600-59436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:59434600-59436000	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr11:59434600-59438400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:59434800-59435400	Enhancers	Brain Anterior Caudate	brain
50	chr11:59434800-59435600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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