Variant report

Variant	rs546631325
Chromosome Location	chr5:79551106-79551107
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	REST	chr5:79550758-79552724	H1-neurons	neurons:	n/a	chr5:79551622-79551635 chr5:79551792-79551805 chr5:79551571-79551584 chr5:79551626-79551639 chr5:79551349-79551367 chr5:79551451-79551464 chr5:79552262-79552272
2	POLR2A	chr5:79550560-79552694	IMR90	lung:	n/a	n/a
3	SIN3AK20	chr5:79550325-79552752	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:79550964-79552705	MCF-7	breast:	n/a	n/a
5	MTA3	chr5:79550946-79551329	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:79550463-79551148	HL-60	blood:	n/a	n/a
7	MAX	chr5:79550905-79552356	ECC-1	luminal epithelium:	n/a	n/a
8	TBP	chr5:79550898-79552703	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr5:79550460-79552480	MCF-7	breast:	n/a	chr5:79550647-79550657 chr5:79550647-79550657
10	STAT3	chr5:79550983-79551202	MCF10A-Er-Src	breast:	n/a	chr5:79551074-79551082
11	JUND	chr5:79551094-79551400	K562	blood:	n/a	n/a
12	MAX	chr5:79550967-79552685	A549	lung:	n/a	n/a
13	MYC	chr5:79550418-79552527	K562	blood:	n/a	chr5:79550647-79550657 chr5:79550647-79550657
14	ELF1	chr5:79551008-79552509	GM12878	blood:	n/a	chr5:79551475-79551487 chr5:79551980-79551989 chr5:79552049-79552060
15	RAD21	chr5:79550812-79551507	MCF-7	breast:	n/a	n/a
16	CHD1	chr5:79550269-79551479	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr5:79550978-79552494	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr5:79548149-79554758	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr5:79550412-79552545	HepG2	liver:	n/a	chr5:79550647-79550657 chr5:79550647-79550657
20	ELF1	chr5:79551051-79552712	MCF-7	breast:	n/a	chr5:79551475-79551487 chr5:79551980-79551989 chr5:79552049-79552060
21	ZNF143	chr5:79550902-79552274	GM12878	blood:	n/a	chr5:79551176-79551186 chr5:79551694-79551704
22	MAZ	chr5:79551079-79551446	GM12878	blood:	n/a	n/a
23	SIN3A	chr5:79550082-79552699	H1-hESC	embryonic stem cell:	n/a	chr5:79550648-79550657 chr5:79552277-79552288 chr5:79551823-79551834 chr5:79552263-79552272
24	SIN3AK20	chr5:79550907-79552423	MCF-7	breast:	n/a	n/a
25	MAZ	chr5:79550569-79552673	IMR90	lung:	n/a	chr5:79550647-79550657 chr5:79550647-79550657
26	POLR2A	chr5:79551103-79551279	ProgFib	skin:	n/a	n/a
27	HCFC1	chr5:79551000-79552674	Hela-S3	cervix:	n/a	n/a
28	MXI1	chr5:79550478-79552562	GM12878	blood:	n/a	chr5:79550648-79550657 chr5:79550648-79550657
29	MAX	chr5:79551061-79552538	A549	lung:	n/a	n/a
30	MXI1	chr5:79550385-79552755	IMR90	lung:	n/a	chr5:79550648-79550657 chr5:79550648-79550657
31	MYC	chr5:79550914-79551268	MCF10A-Er-Src	breast:	n/a	n/a
32	MXI1	chr5:79550155-79552812	SK-N-SH	brain:	n/a	chr5:79550648-79550657 chr5:79550648-79550657
33	BHLHE40	chr5:79550990-79552295	HepG2	liver:	n/a	chr5:79552256-79552272 chr5:79551974-79551990
34	MYC	chr5:79550487-79552554	MCF10A-Er-Src	breast:	n/a	chr5:79550647-79550657 chr5:79550647-79550657
35	SMARCB1	chr5:79551041-79552531	Hela-S3	cervix:	n/a	n/a
36	UBTF	chr5:79551037-79552612	K562	blood:	n/a	n/a
37	POLR2A	chr5:79551000-79552750	HL-60	blood:	n/a	n/a
38	POLR2A	chr5:79550597-79552711	HepG2	liver:	n/a	n/a
39	CREB1	chr5:79550982-79552555	HepG2	liver:	n/a	n/a
40	CUX1	chr5:79551023-79551306	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:79551094-79552521	MCF-7	breast:	n/a	n/a
42	POLR2A	chr5:79550426-79552777	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr5:79550172-79552735	MCF10A-Er-Src	breast:	n/a	n/a
44	RAD21	chr5:79550711-79551514	IMR90	lung:	n/a	n/a
45	STAT3	chr5:79551002-79551202	MCF10A-Er-Src	breast:	n/a	chr5:79551074-79551082
46	CCNT2	chr5:79550736-79552444	K562	blood:	n/a	n/a
47	MAX	chr5:79551074-79552372	K562	blood:	n/a	n/a
48	POLR2A	chr5:79550579-79552685	PBDE	blood:	n/a	n/a
49	POLR2A	chr5:79550974-79552700	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:79533016..79538413-chr5:79547668..79554494,9	MCF-7	breast:
2	chr5:79423046..79425756-chr5:79550269..79553191,3	MCF-7	breast:
3	chr5:79550504..79553635-chr5:79702210..79704282,3	K562	blood:
4	chr5:79535394..79538837-chr5:79548301..79551920,3	K562	blood:
5	chr5:79462247..79466170-chr5:79549724..79555274,4	MCF-7	breast:

Variant related genes	Relation type
SERINC5	TF binding region
ENSG00000251675	Chromatin interaction
ENSG00000239159	Chromatin interaction
ENSG00000164300	Chromatin interaction
ENSG00000039319	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3366910	chr5:79550846-79553244	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79548600-79551200	Flanking Active TSS	Liver	Liver
2	chr5:79548600-79551200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr5:79548800-79552600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:79549000-79553000	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:79549200-79553400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr5:79549200-79553400	Active TSS	Fetal Kidney	kidney
7	chr5:79549400-79552400	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr5:79549400-79553400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:79549600-79552400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr5:79549600-79553000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:79549800-79551200	Flanking Active TSS	Dnd41	blood
12	chr5:79549800-79551400	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr5:79549800-79551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:79549800-79552400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr5:79549800-79552600	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr5:79549800-79552800	Active TSS	Esophagus	oesophagus
17	chr5:79549800-79552800	Active TSS	Fetal Intestine Large	intestine
18	chr5:79549800-79553000	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr5:79549800-79554600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:79550000-79551200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr5:79550000-79551200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr5:79550000-79551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:79550000-79553000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr5:79550000-79553600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:79550000-79554200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr5:79550200-79551200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:79550200-79551800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr5:79550200-79552200	Active TSS	Primary T cells fromperipheralblood	blood
29	chr5:79550200-79552400	Active TSS	Brain Cingulate Gyrus	brain
30	chr5:79550200-79552600	Active TSS	Ovary	ovary
31	chr5:79550200-79553000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:79550200-79553000	Active TSS	Colonic Mucosa	Colon
33	chr5:79550200-79553600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:79550200-79553600	Active TSS	Right Ventricle	heart
35	chr5:79550200-79554000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr5:79550400-79551200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:79550400-79551400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr5:79550400-79551400	Flanking Active TSS	GM12878-XiMat	blood
39	chr5:79550400-79551600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:79550400-79552400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:79550400-79552400	Active TSS	Fetal Muscle Trunk	muscle
42	chr5:79550400-79552600	Active TSS	Gastric	stomach
43	chr5:79550400-79552600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr5:79550400-79552600	Active TSS	Small Intestine	intestine
45	chr5:79550400-79552800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:79550400-79552800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:79550400-79552800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr5:79550400-79553000	Active TSS	A549	lung
49	chr5:79550400-79553600	Active TSS	Brain Angular Gyrus	brain
50	chr5:79550400-79553600	Active TSS	Duodenum Smooth Muscle	Duodenum

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