Variant report

Variant	rs531388070
Chromosome Location	chr5:76135219-76135220
allele	C/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	SP1	chr5:76134039-76135403	HCT-116	colon:	n/a	n/a
2	POLR2A	chr5:76134021-76135436	PANC-1	pancreas:	n/a	n/a
3	SP1	chr5:76134020-76135446	HCT-116	colon:	n/a	n/a
4	JUND	chr5:76134727-76135319	A549	lung:	n/a	chr5:76134890-76134900 chr5:76134891-76134899 chr5:76134889-76134901 chr5:76134890-76134900 chr5:76134890-76134900
5	JUND	chr5:76134100-76135393	HCT-116	colon:	n/a	chr5:76134890-76134900 chr5:76134891-76134899 chr5:76134889-76134901 chr5:76134890-76134900 chr5:76134890-76134900
6	POLR2A	chr5:76131046-76138228	A549	lung:	n/a	n/a
7	POLR2A	chr5:76134083-76135438	PFSK-1	brain:	n/a	n/a
8	FOSL1	chr5:76134070-76135382	HCT-116	colon:	n/a	chr5:76134890-76134900 chr5:76134891-76134899 chr5:76134889-76134901 chr5:76134890-76134900 chr5:76134890-76134900
9	POLR2A	chr5:76134100-76135356	PANC-1	pancreas:	n/a	n/a
10	FOSL1	chr5:76134223-76135340	HCT-116	colon:	n/a	chr5:76134890-76134900 chr5:76134891-76134899 chr5:76134889-76134901 chr5:76134890-76134900 chr5:76134890-76134900
11	POLR2A	chr5:76134017-76135348	HCT-116	colon:	n/a	n/a
12	POLR2A	chr5:76134590-76135384	PFSK-1	brain:	n/a	n/a
13	TEAD4	chr5:76134573-76135250	HCT-116	colon:	n/a	n/a
14	JUND	chr5:76134037-76135460	HCT-116	colon:	n/a	chr5:76134890-76134900 chr5:76134891-76134899 chr5:76134889-76134901 chr5:76134890-76134900 chr5:76134890-76134900

Variant related genes	Relation type
RN7SL208P	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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv994503	chr5:76129230-76144182	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2762526	chr5:76134777-76153934	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76129800-76135800	Weak transcription	Pancreas	Pancrea
2	chr5:76130200-76135800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:76130200-76137200	Weak transcription	Esophagus	oesophagus
4	chr5:76130400-76135600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:76130400-76140400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:76132200-76135400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:76132200-76145800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:76132800-76136800	Enhancers	Fetal Intestine Large	intestine
9	chr5:76133600-76136800	Enhancers	Fetal Intestine Small	intestine
10	chr5:76134000-76136000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:76134000-76136000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:76134200-76135400	Enhancers	NHDF-Ad	bronchial
13	chr5:76134200-76135400	Enhancers	Osteobl	bone
14	chr5:76134200-76135800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:76134200-76136000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:76134200-76136000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:76134200-76136200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:76134200-76136800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:76134400-76135400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:76134400-76135400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:76134600-76135400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:76134600-76136400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:76134800-76135400	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:76134800-76135400	Enhancers	Gastric	stomach
25	chr5:76134800-76135400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr5:76134800-76136000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:76134800-76136000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:76135000-76135400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:76135000-76135400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr5:76135000-76135400	Enhancers	NH-A	brain
31	chr5:76135000-76136000	Weak transcription	Fetal Kidney	kidney
32	chr5:76135000-76136400	Weak transcription	HepG2	liver
33	chr5:76135000-76137200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:76135000-76138600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:76135000-76139800	Weak transcription	Small Intestine	intestine
36	chr5:76135200-76135400	Enhancers	Colonic Mucosa	Colon
37	chr5:76135200-76135600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:76135200-76136000	Enhancers	A549	lung
39	chr5:76135200-76136000	Enhancers	Hela-S3	cervix
40	chr5:76135200-76140200	Weak transcription	HUVEC	blood vessel
41	chr5:76135200-76140800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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