Variant report

Variant	rs569283462
Chromosome Location	chr14:31873097-31873098
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	MAFK	chr14:31872962-31873287	HepG2	liver:	n/a	n/a
2	MAFF	chr14:31872951-31873262	HepG2	liver:	n/a	n/a
3	MAFK	chr14:31872972-31873262	HepG2	liver:	n/a	n/a
4	MAFK	chr14:31872967-31873243	IMR90	lung:	n/a	n/a
5	MAFF	chr14:31873097-31873132	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31872181..31874850-chr14:31924970..31926788,2	K562	blood:
2	chr14:31868409..31871104-chr14:31872239..31873925,2	K562	blood:

Variant related genes	Relation type
HEATR5A	TF binding region
ENSG00000203546	Chromatin interaction
ENSG00000129480	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
4	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
5	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
7	chr14:31827400-31874400	Weak transcription	Spleen	Spleen
8	chr14:31838000-31875000	Weak transcription	K562	blood
9	chr14:31847000-31878600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:31847600-31875000	Weak transcription	Stomach Mucosa	stomach
11	chr14:31847800-31887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:31853200-31875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:31853200-31880600	Weak transcription	HSMMtube	muscle
14	chr14:31854600-31880600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:31855000-31888400	Weak transcription	Primary T cells from cord blood	blood
16	chr14:31859200-31875200	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:31859200-31880600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:31861600-31888400	Weak transcription	Psoas Muscle	Psoas
19	chr14:31863000-31879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:31863000-31889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:31863200-31874400	Weak transcription	Lung	lung
22	chr14:31863400-31883200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:31863400-31884400	Weak transcription	Brain Anterior Caudate	brain
24	chr14:31863800-31877600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:31864600-31888400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:31865600-31878200	Weak transcription	HMEC	breast
27	chr14:31865600-31883200	Weak transcription	NHEK	skin
28	chr14:31865600-31884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:31865800-31874000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:31865800-31879600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:31865800-31888600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:31866200-31876400	Weak transcription	NHLF	lung
33	chr14:31866200-31879600	Weak transcription	Fetal Lung	lung
34	chr14:31867000-31886800	Weak transcription	Esophagus	oesophagus
35	chr14:31867200-31875200	Weak transcription	Fetal Intestine Small	intestine
36	chr14:31867600-31880600	Weak transcription	Colonic Mucosa	Colon
37	chr14:31867800-31874800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:31867800-31880400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:31868000-31875800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:31868000-31883800	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:31868200-31887400	Weak transcription	Fetal Intestine Large	intestine
42	chr14:31868400-31883800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:31869000-31878600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:31869800-31879200	Weak transcription	GM12878-XiMat	blood
45	chr14:31869800-31880600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:31870600-31883200	Weak transcription	Brain Angular Gyrus	brain
47	chr14:31870600-31888200	Weak transcription	Fetal Stomach	stomach
48	chr14:31870800-31878800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:31870800-31880600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:31870800-31888800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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