Variant report

Variant	rs540845987
Chromosome Location	chr13:98084324-98084325
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	RFX5	chr13:98083186-98086694	SK-N-SH	brain:	n/a	chr13:98085517-98085531 chr13:98085516-98085531
2	MAFK	chr13:98084324-98084495	HepG2	liver:	n/a	chr13:98084363-98084377 chr13:98084364-98084375 chr13:98084365-98084376 chr13:98084364-98084375
3	EP300	chr13:98083473-98087710	SK-N-SH	brain:	n/a	chr13:98086667-98086676 chr13:98085977-98085990

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:98078675..98081221-chr13:98083499..98086151,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OXGR1-6	chr13:98081597-98086236	NONHSAT034832

Variant related genes	Relation type
RAP2A	TF binding region

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	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
2	esv1791802	chr13:98076911-98096882	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1804050	chr13:98076911-98096882	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1794802	chr13:98076911-98106042	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1797132	chr13:98076911-98106042	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv562794	chr13:98083262-98086828	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98076400-98084800	Weak transcription	Esophagus	oesophagus
2	chr13:98080400-98084400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:98081800-98084400	Enhancers	Fetal Heart	heart
4	chr13:98081800-98084400	Enhancers	Fetal Intestine Small	intestine
5	chr13:98082000-98084600	Enhancers	Fetal Intestine Large	intestine
6	chr13:98082200-98084400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr13:98082200-98084400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr13:98082200-98084400	Weak transcription	Adipose Nuclei	Adipose
9	chr13:98082200-98084600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:98082200-98084600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:98082200-98084600	Weak transcription	Aorta	Aorta
12	chr13:98082200-98084600	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:98082200-98084600	Weak transcription	Left Ventricle	heart
14	chr13:98082200-98084600	Weak transcription	Hela-S3	cervix
15	chr13:98082200-98085000	Weak transcription	K562	blood
16	chr13:98082400-98084400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:98082400-98084400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:98082400-98084400	Weak transcription	Right Atrium	heart
19	chr13:98082400-98084400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr13:98082400-98084400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr13:98082400-98084600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr13:98082400-98084600	Weak transcription	Placenta	Placenta
23	chr13:98082400-98084800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:98082600-98084400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr13:98082800-98084400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:98082800-98084400	Enhancers	Fetal Lung	lung
27	chr13:98082800-98084400	Weak transcription	Fetal Muscle Leg	muscle
28	chr13:98082800-98084400	Weak transcription	NH-A	brain
29	chr13:98082800-98084600	Weak transcription	HSMMtube	muscle
30	chr13:98082800-98084800	Weak transcription	Spleen	Spleen
31	chr13:98083000-98084400	Enhancers	Brain Anterior Caudate	brain
32	chr13:98083000-98084400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr13:98083000-98084400	Weak transcription	HSMM	muscle
34	chr13:98083000-98084600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:98083200-98088000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr13:98083400-98084400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:98083400-98084400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr13:98083400-98084400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr13:98083400-98084400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr13:98083400-98084600	Flanking Active TSS	Fetal Brain Female	brain
41	chr13:98083400-98088800	Active TSS	GM12878-XiMat	blood
42	chr13:98083600-98084400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:98083600-98084400	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr13:98083600-98084400	Enhancers	Brain Cingulate Gyrus	brain
45	chr13:98083600-98084400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:98083600-98084400	Weak transcription	Fetal Stomach	stomach
47	chr13:98083600-98084600	Weak transcription	Colonic Mucosa	Colon
48	chr13:98083600-98084800	Flanking Active TSS	Dnd41	blood
49	chr13:98083600-98088200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr13:98083800-98084400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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