Variant report

Variant	rs373338343
Chromosome Location	chr11:45922019-45922020
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr11:45921922-45922319	ECC-1	luminal epithelium:	n/a	n/a
2	REST	chr11:45920538-45922058	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
3	POLR2A	chr11:45921418-45922167	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr11:45921953-45922282	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:45921956-45922343	H1-neurons	neurons:	n/a	n/a
6	ZBTB7A	chr11:45921950-45922192	K562	blood:	n/a	n/a
7	HMGN3	chr11:45920850-45922250	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45868921..45870450-chr11:45919310..45922192,2	K562	blood:
2	chr11:45897697..45900039-chr11:45919922..45922515,2	K562	blood:
3	chr11:45898608..45900937-chr11:45921279..45922958,2	MCF-7	breast:
4	chr1:198127987..198130106-chr11:45920994..45922551,2	MCF-7	breast:
5	chr11:45897449..45899197-chr11:45919922..45922462,2	K562	blood:
6	chr11:45921817..45923409-chr11:45925394..45927956,2	K562	blood:
7	chr11:45920062..45922983-chr11:45935210..45941830,10	K562	blood:
8	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:
9	chr11:45904574..45907083-chr11:45920026..45922634,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000121671	Chromatin interaction
ENSG00000121680	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3344990	chr11:45920601-45923149	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr11:45920800-45922800	Enhancers	Liver	Liver
2	chr11:45921000-45922200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:45921000-45922200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:45921000-45922200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:45921000-45922200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:45921000-45922200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:45921000-45922200	Active TSS	Aorta	Aorta
8	chr11:45921000-45922400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:45921000-45922400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr11:45921000-45922600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:45921000-45922600	Active TSS	Fetal Kidney	kidney
12	chr11:45921000-45922600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr11:45921000-45923000	Active TSS	Brain Angular Gyrus	brain
14	chr11:45921000-45923000	Active TSS	Brain Substantia Nigra	brain
15	chr11:45921000-45923200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:45921200-45922200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:45921200-45922200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:45921200-45922200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:45921200-45922200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr11:45921200-45922200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:45921200-45922200	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr11:45921200-45922200	Active TSS	Colon Smooth Muscle	Colon
23	chr11:45921200-45922200	Active TSS	Esophagus	oesophagus
24	chr11:45921200-45922200	Weak transcription	Fetal Brain Male	brain
25	chr11:45921200-45922200	Active TSS	Fetal Brain Female	brain
26	chr11:45921200-45922200	Bivalent/Poised TSS	Fetal Stomach	stomach
27	chr11:45921200-45922200	Active TSS	Psoas Muscle	Psoas
28	chr11:45921200-45922200	Active TSS	HepG2	liver
29	chr11:45921200-45922400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:45921200-45922400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:45921200-45922400	Active TSS	Ovary	ovary
32	chr11:45921200-45922400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
33	chr11:45921200-45922400	Active TSS	Rectal Smooth Muscle	rectum
34	chr11:45921200-45922400	Active TSS	A549	lung
35	chr11:45921200-45922400	Active TSS	HSMM	muscle
36	chr11:45921200-45922600	Active TSS	NHDF-Ad	bronchial
37	chr11:45921200-45922800	Active TSS	Brain Anterior Caudate	brain
38	chr11:45921200-45922800	Active TSS	Brain Cingulate Gyrus	brain
39	chr11:45921200-45922800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr11:45921200-45922800	Active TSS	HSMMtube	muscle
41	chr11:45921200-45922800	Active TSS	NHLF	lung
42	chr11:45921200-45923000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:45921200-45923200	Active TSS	Brain Hippocampus Middle	brain
44	chr11:45921400-45922200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:45921400-45933000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:45921600-45922200	Enhancers	Primary B cells from cord blood	blood
47	chr11:45921600-45922200	Bivalent/Poised TSS	Thymus	Thymus
48	chr11:45921600-45922400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:45921600-45922600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr11:45921600-45922600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood

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