Variant report

Variant	rs200544697
Chromosome Location	chr15:45364007-45364008
allele	A/C
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	GATA2	chr15:45363824-45364116	K562	blood:	n/a	chr15:45363927-45363936

Variant related genes	Relation type
SORD	TF binding region

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	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv977711	chr15:45362652-45373399	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:45329800-45365800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:45331400-45369600	Weak transcription	Pancreas	Pancrea
4	chr15:45337400-45365400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr15:45338400-45365200	Weak transcription	HSMM	muscle
6	chr15:45341600-45365800	Weak transcription	Fetal Lung	lung
7	chr15:45341800-45366600	Weak transcription	Thymus	Thymus
8	chr15:45345000-45374800	Weak transcription	Aorta	Aorta
9	chr15:45345400-45369400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:45345600-45364800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:45350600-45366400	Weak transcription	A549	lung
12	chr15:45352000-45366400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:45352000-45369800	Weak transcription	Lung	lung
14	chr15:45353600-45364400	Weak transcription	GM12878-XiMat	blood
15	chr15:45353600-45365200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr15:45353600-45365600	Weak transcription	Small Intestine	intestine
17	chr15:45354800-45365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:45354800-45370400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:45355000-45364800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:45357000-45365200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:45357800-45364800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:45360600-45365600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:45360600-45371400	Weak transcription	Left Ventricle	heart
24	chr15:45361200-45364200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:45361600-45364400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:45361800-45369600	Weak transcription	Right Ventricle	heart
27	chr15:45362000-45367200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:45362200-45364200	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:45362200-45365400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:45362200-45366400	Weak transcription	Hela-S3	cervix
31	chr15:45362200-45367000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:45362200-45367200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:45362400-45364200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr15:45362400-45367600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr15:45362400-45371200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:45362800-45366400	Weak transcription	Fetal Intestine Large	intestine
37	chr15:45362800-45368200	Weak transcription	Esophagus	oesophagus
38	chr15:45362800-45369400	Weak transcription	HUVEC	blood vessel
39	chr15:45363400-45369600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr15:45363600-45365600	Weak transcription	Dnd41	blood
41	chr15:45363600-45365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:45363600-45366400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:45363600-45366600	Weak transcription	Fetal Brain Female	brain
44	chr15:45363600-45366800	Weak transcription	Fetal Stomach	stomach
45	chr15:45363600-45369200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:45363600-45370000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:45363800-45364800	Weak transcription	Liver	Liver
48	chr15:45363800-45365000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:45363800-45365400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr15:45363800-45365400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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