Variant report

Variant	rs4704654
Chromosome Location	chr5:79551597-79551598
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	POLR2A	chr5:79551301-79553686	Hela-S3	cervix:	n/a	n/a
2	MYC	chr5:79551242-79552571	K562	blood:	n/a	n/a
3	POLR2A	chr5:79551304-79552662	HepG2	liver:	n/a	n/a
4	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
5	POLR2A	chr5:79550560-79552694	IMR90	lung:	n/a	n/a
6	SIN3AK20	chr5:79550325-79552752	MCF-7	breast:	n/a	n/a
7	POLR2A	chr5:79550964-79552705	MCF-7	breast:	n/a	n/a
8	MXI1	chr5:79551283-79551857	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:79551144-79552505	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:79551242-79552767	K562	blood:	n/a	n/a
11	POLR2A	chr5:79551545-79552357	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr5:79550905-79552356	ECC-1	luminal epithelium:	n/a	n/a
13	HDAC2	chr5:79551562-79552254	HepG2	liver:	n/a	n/a
14	TBP	chr5:79550898-79552703	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr5:79551512-79552264	K562	blood:	n/a	chr5:79551773-79551787 chr5:79551571-79551585
16	MAX	chr5:79550460-79552480	MCF-7	breast:	n/a	chr5:79550647-79550657 chr5:79550647-79550657
17	TCF12	chr5:79551425-79552434	ECC-1	luminal epithelium:	n/a	n/a
18	E2F6	chr5:79551197-79552287	H1-hESC	embryonic stem cell:	n/a	chr5:79551527-79551539 chr5:79551574-79551584
19	TAF1	chr5:79551481-79552790	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:79551554-79551915	GM12878	blood:	n/a	n/a
21	MXI1	chr5:79551203-79552471	HepG2	liver:	n/a	n/a
22	E2F6	chr5:79551305-79552377	A549	lung:	n/a	chr5:79551527-79551539 chr5:79551574-79551584
23	SIN3A	chr5:79551273-79552300	GM12878	blood:	n/a	chr5:79552277-79552288 chr5:79551823-79551834 chr5:79552263-79552272
24	RELA	chr5:79551315-79552312	GM19099	blood:	n/a	n/a
25	TAF1	chr5:79551510-79552376	HepG2	liver:	n/a	n/a
26	TBL1XR1	chr5:79551334-79552324	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:79551573-79552372	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr5:79551541-79552400	Gliobla	brain:	n/a	n/a
29	POLR2A	chr5:79551575-79552382	A549	lung:	n/a	n/a
30	POLR2A	chr5:79551548-79552546	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr5:79551576-79552764	HCT-116	colon:	n/a	n/a
32	MAX	chr5:79550967-79552685	A549	lung:	n/a	n/a
33	MYC	chr5:79550418-79552527	K562	blood:	n/a	chr5:79550647-79550657 chr5:79550647-79550657
34	GABPA	chr5:79551533-79552299	K562	blood:	n/a	n/a
35	NFIC	chr5:79551523-79552295	ECC-1	luminal epithelium:	n/a	n/a
36	TAF1	chr5:79551298-79552354	ECC-1	luminal epithelium:	n/a	n/a
37	TCF12	chr5:79551528-79552694	A549	lung:	n/a	n/a
38	POLR2A	chr5:79551465-79552524	PFSK-1	brain:	n/a	n/a
39	BACH1	chr5:79551330-79551779	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr5:79551550-79552490	U87	brain:	n/a	n/a
41	POLR2A	chr5:79551540-79552496	GM12892	blood:	n/a	n/a
42	MAX	chr5:79551116-79551899	A549	lung:	n/a	n/a
43	POLR2A	chr5:79551435-79552492	GM18526	blood:	n/a	n/a
44	POLR2A	chr5:79551135-79552735	K562	blood:	n/a	n/a
45	ELF1	chr5:79551008-79552509	GM12878	blood:	n/a	chr5:79551475-79551487 chr5:79551980-79551989 chr5:79552049-79552060
46	BHLHE40	chr5:79551199-79552525	GM12878	blood:	n/a	chr5:79552256-79552272 chr5:79551974-79551990
47	MXI1	chr5:79551205-79552448	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr5:79551343-79552395	A549	lung:	n/a	n/a
49	POLR2A	chr5:79551486-79552460	HUVEC	blood vessel:	n/a	n/a
50	TAF1	chr5:79551222-79552284	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:79533016..79538413-chr5:79547668..79554494,9	MCF-7	breast:
2	chr1:94146452..94147094-chr5:79551449..79552398,2	Hela-S3	cervix:
3	chr5:79423046..79425756-chr5:79550269..79553191,3	MCF-7	breast:
4	chr5:79550504..79553635-chr5:79702210..79704282,3	K562	blood:
5	chr5:79535394..79538837-chr5:79548301..79551920,3	K562	blood:
6	chr5:79462247..79466170-chr5:79549724..79555274,4	MCF-7	breast:

Variant related genes	Relation type
SERINC5	TF binding region
ENSG00000164300	Chromatin interaction
ENSG00000251675	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000039319	Chromatin interaction
ENSG00000239159	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	chr5:79548800-79552600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:79549000-79553000	Active TSS	Rectal Smooth Muscle	rectum
3	chr5:79549200-79553400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr5:79549200-79553400	Active TSS	Fetal Kidney	kidney
5	chr5:79549400-79552400	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr5:79549400-79553400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:79549600-79552400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr5:79549600-79553000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:79549800-79551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:79549800-79552400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr5:79549800-79552600	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr5:79549800-79552800	Active TSS	Esophagus	oesophagus
13	chr5:79549800-79552800	Active TSS	Fetal Intestine Large	intestine
14	chr5:79549800-79553000	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr5:79549800-79554600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:79550000-79551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:79550000-79553000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr5:79550000-79553600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:79550000-79554200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr5:79550200-79551800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr5:79550200-79552200	Active TSS	Primary T cells fromperipheralblood	blood
22	chr5:79550200-79552400	Active TSS	Brain Cingulate Gyrus	brain
23	chr5:79550200-79552600	Active TSS	Ovary	ovary
24	chr5:79550200-79553000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:79550200-79553000	Active TSS	Colonic Mucosa	Colon
26	chr5:79550200-79553600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:79550200-79553600	Active TSS	Right Ventricle	heart
28	chr5:79550200-79554000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr5:79550400-79551600	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr5:79550400-79552400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:79550400-79552400	Active TSS	Fetal Muscle Trunk	muscle
32	chr5:79550400-79552600	Active TSS	Gastric	stomach
33	chr5:79550400-79552600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr5:79550400-79552600	Active TSS	Small Intestine	intestine
35	chr5:79550400-79552800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:79550400-79552800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:79550400-79552800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:79550400-79553000	Active TSS	A549	lung
39	chr5:79550400-79553600	Active TSS	Brain Angular Gyrus	brain
40	chr5:79550400-79553600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr5:79550400-79553800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:79550600-79552200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr5:79550600-79552200	Active TSS	Fetal Brain Female	brain
44	chr5:79550600-79552200	Active TSS	Placenta Amnion	Placenta Amnion
45	chr5:79550600-79552400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:79550600-79552400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:79550600-79552400	Active TSS	HSMMtube	muscle
48	chr5:79550600-79552600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:79550600-79552600	Active TSS	Aorta	Aorta
50	chr5:79550600-79552600	Active TSS	Pancreas	Pancrea

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