Variant report

Variant	rs199785651
Chromosome Location	chr14:56584171-56584172
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	MAZ	chr14:56584116-56586945	IMR90	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407 chr14:56585757-56585767
2	MXI1	chr14:56584118-56587663	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56582513..56585426-chr14:56585434..56588675,3	K562	blood:

Variant related genes	Relation type
PELI2	TF binding region
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3401883	chr14:56584049-56586947	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv78673	chr14:56584172-56584174	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56579800-56584200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:56582000-56584200	Enhancers	Primary T cells from cord blood	blood
3	chr14:56582000-56584200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:56582000-56584200	Enhancers	Fetal Brain Male	brain
5	chr14:56582200-56584200	Enhancers	Fetal Thymus	thymus
6	chr14:56582200-56584600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr14:56582400-56584200	Enhancers	Dnd41	blood
8	chr14:56582600-56584200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr14:56582600-56584200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:56582600-56584400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:56582600-56584400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr14:56582600-56584600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr14:56582800-56584200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr14:56582800-56584200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:56582800-56584200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr14:56582800-56584200	Enhancers	Fetal Lung	lung
17	chr14:56583000-56584200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:56583000-56584200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr14:56583000-56584200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:56583000-56584200	Enhancers	Brain Hippocampus Middle	brain
21	chr14:56583000-56584800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr14:56583200-56584200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:56583200-56584200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr14:56583200-56584200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:56583200-56584200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:56583200-56584200	Enhancers	Adipose Nuclei	Adipose
27	chr14:56583200-56584200	Enhancers	Brain Cingulate Gyrus	brain
28	chr14:56583200-56584200	Enhancers	Fetal Intestine Small	intestine
29	chr14:56583200-56584400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:56583200-56584800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:56583400-56584200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr14:56583400-56584200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:56583400-56584200	Enhancers	Fetal Kidney	kidney
34	chr14:56583400-56584200	Weak transcription	Thymus	Thymus
35	chr14:56583400-56584400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:56583400-56584400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:56583400-56584400	Weak transcription	Psoas Muscle	Psoas
38	chr14:56583400-56587600	Active TSS	Ovary	ovary
39	chr14:56583600-56584200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:56583600-56584200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:56583600-56584400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:56583600-56584400	Weak transcription	Gastric	stomach
43	chr14:56583600-56584400	Weak transcription	Lung	lung
44	chr14:56583600-56584400	Weak transcription	Pancreas	Pancrea
45	chr14:56583600-56584400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:56583800-56584200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr14:56583800-56584200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:56583800-56584200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:56583800-56584200	Enhancers	Liver	Liver
50	chr14:56583800-56584200	Enhancers	Brain Substantia Nigra	brain

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