Variant report

Variant	rs544370251
Chromosome Location	chr14:55872995-55872996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55868160..55871360-chr14:55872388..55874705,3	K562	blood:
2	chr14:55872877..55874681-chr14:55877005..55878622,2	MCF-7	breast:
3	chr14:55869644..55873537-chr14:55877661..55881822,3	K562	blood:
4	chr14:55863036..55866300-chr14:55870450..55873492,4	K562	blood:

Variant related genes	Relation type
ENSG00000126775	Chromatin interaction
ENSG00000239199	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
3	chr14:55848600-55876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:55849200-55876600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:55849200-55878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:55852000-55877200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:55853000-55877200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:55854800-55878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:55856200-55876200	Weak transcription	Fetal Brain Male	brain
10	chr14:55856200-55878000	Weak transcription	Spleen	Spleen
11	chr14:55856400-55876800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:55856400-55877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:55856600-55876600	Weak transcription	Fetal Brain Female	brain
14	chr14:55856800-55875600	Weak transcription	Dnd41	blood
15	chr14:55856800-55877200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:55859200-55874200	Weak transcription	Fetal Stomach	stomach
17	chr14:55860600-55877800	Weak transcription	Lung	lung
18	chr14:55862000-55876000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:55862000-55876200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:55862000-55876400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:55862000-55876800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:55862200-55873600	Weak transcription	Fetal Intestine Small	intestine
23	chr14:55862200-55876200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:55862200-55876400	Weak transcription	Brain Germinal Matrix	brain
25	chr14:55862200-55877000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:55862200-55877600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:55862400-55876200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:55862400-55876200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:55862400-55877200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:55862600-55877400	Weak transcription	Fetal Thymus	thymus
31	chr14:55862800-55876000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:55862800-55876800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:55862800-55877200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:55863400-55876600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:55863400-55876600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:55863400-55877600	Weak transcription	Placenta	Placenta
37	chr14:55863600-55877400	Weak transcription	Thymus	Thymus
38	chr14:55863800-55876600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:55864000-55874400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:55864000-55874600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:55864000-55875800	Weak transcription	HepG2	liver
42	chr14:55864000-55876000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:55864000-55876400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:55864000-55876400	Weak transcription	Liver	Liver
45	chr14:55864000-55876400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr14:55864000-55876600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:55864000-55876600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:55864000-55877200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:55864200-55874200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr14:55864200-55877200	Weak transcription	Primary B cells from cord blood	blood

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