Variant report

Variant	rs541788815
Chromosome Location	chr5:15499855-15499856
allele	G/T
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	SIN3A	chr5:15499664-15501937	H1-hESC	embryonic stem cell:	n/a	chr5:15500416-15500429 chr5:15500559-15500572
2	MAX	chr5:15499787-15500410	SK-N-SH	brain:	n/a	n/a
3	YY1	chr5:15499681-15500339	SK-N-SH_RA	brain:	n/a	n/a
4	TBP	chr5:15499682-15500953	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr5:15499614-15500453	A549	lung:	n/a	n/a
6	PBX3	chr5:15499663-15500463	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr5:15499585-15500608	HUVEC	blood vessel:	n/a	n/a
8	YY1	chr5:15499745-15500433	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr5:15499731-15501975	IMR90	lung:	n/a	chr5:15501643-15501650 chr5:15501212-15501222 chr5:15500595-15500614 chr5:15500403-15500416
10	POLR2A	chr5:15499822-15501110	Gliobla	brain:	n/a	n/a
11	FOXA1	chr5:15499772-15500028	T-47D	breast:	n/a	n/a
12	MAX	chr5:15499806-15500356	A549	lung:	n/a	n/a
13	POLR2A	chr5:15499665-15501053	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr5:15499738-15500467	U87	brain:	n/a	n/a
15	POLR2A	chr5:15499776-15500469	U87	brain:	n/a	n/a
16	MAZ	chr5:15499441-15503111	IMR90	lung:	n/a	chr5:15500615-15500625
17	POLR2A	chr5:15499756-15500475	U87	brain:	n/a	n/a
18	TCF7L2	chr5:15499827-15499983	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:15499671-15501010	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
FBXL7	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3345774	chr5:15499527-15501975	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 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	chr5:15499200-15500000	Flanking Active TSS	Dnd41	blood
2	chr5:15499400-15500000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:15499400-15500000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:15499400-15500000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:15499400-15500000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:15499400-15500000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:15499400-15500000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:15499400-15500000	Flanking Active TSS	Osteobl	bone
9	chr5:15499400-15500200	Flanking Active TSS	HUVEC	blood vessel
10	chr5:15499400-15500600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr5:15499400-15500800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr5:15499400-15501600	Active TSS	Brain Anterior Caudate	brain
13	chr5:15499400-15501800	Active TSS	Brain Hippocampus Middle	brain
14	chr5:15499400-15502200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:15499400-15502600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:15499400-15502600	Active TSS	Colon Smooth Muscle	Colon
17	chr5:15499400-15502600	Active TSS	NHDF-Ad	bronchial
18	chr5:15499400-15502800	Active TSS	Brain Substantia Nigra	brain
19	chr5:15499600-15500000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:15499600-15500000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:15499600-15500000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr5:15499600-15500000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr5:15499600-15500000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:15499600-15500000	Bivalent Enhancer	Liver	Liver
25	chr5:15499600-15500000	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr5:15499600-15500000	Flanking Active TSS	Fetal Brain Female	brain
27	chr5:15499600-15500000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr5:15499600-15500000	Flanking Active TSS	Fetal Lung	lung
29	chr5:15499600-15500000	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr5:15499600-15500000	Active TSS	Psoas Muscle	Psoas
31	chr5:15499600-15500000	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr5:15499600-15500000	Flanking Active TSS	HSMM	muscle
33	chr5:15499600-15500000	Flanking Active TSS	HSMMtube	muscle
34	chr5:15499600-15500200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:15499600-15500200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr5:15499600-15500200	Active TSS	Fetal Heart	heart
37	chr5:15499600-15500200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
38	chr5:15499600-15500200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr5:15499600-15500400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:15499600-15500800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:15499600-15500800	Active TSS	A549	lung
42	chr5:15499600-15501000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr5:15499600-15501000	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr5:15499600-15501600	Active TSS	Placenta Amnion	Placenta Amnion
45	chr5:15499600-15501600	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:15499600-15501800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr5:15499600-15502000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr5:15499600-15502000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:15499600-15502000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:15499600-15502000	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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