Variant report

Variant	rs548322807
Chromosome Location	chr5:43515825-43515826
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43514596-43516073	Raji	blood:	n/a	n/a
2	IRF1	chr5:43514817-43515973	K562	blood:	n/a	chr5:43515262-43515276 chr5:43515294-43515308
3	POLR2A	chr5:43514895-43515951	U87	brain:	n/a	n/a
4	MAX	chr5:43514347-43516211	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr5:43514282-43515947	IMR90	lung:	n/a	n/a
6	RCOR1	chr5:43514661-43515830	K562	blood:	n/a	n/a
7	MYC	chr5:43514687-43516197	K562	blood:	n/a	n/a
8	POLR2A	chr5:43514388-43516084	Hela-S3	cervix:	n/a	n/a
9	RCOR1	chr5:43514684-43515953	K562	blood:	n/a	n/a
10	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a
11	TBL1XR1	chr5:43514532-43515890	K562	blood:	n/a	n/a
12	POLR2A	chr5:43514689-43515831	K562	blood:	n/a	n/a
13	HCFC1	chr5:43513376-43516275	Hela-S3	cervix:	n/a	n/a
14	UBTF	chr5:43514685-43515909	K562	blood:	n/a	n/a
15	MYC	chr5:43514723-43516019	K562	blood:	n/a	n/a
16	POLR2A	chr5:43514800-43516080	MCF-7	breast:	n/a	n/a
17	POLR2A	chr5:43514691-43515902	NB4	blood:	n/a	n/a
18	YY1	chr5:43515706-43516138	K562	blood:	n/a	chr5:43516012-43516024
19	POLR2A	chr5:43514526-43515829	U87	brain:	n/a	n/a
20	USF2	chr5:43514703-43516121	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:43514505-43516062	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr5:43514570-43515932	K562	blood:	n/a	n/a
23	CHD1	chr5:43514444-43515997	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF384	chr5:43514987-43515925	K562	blood:	n/a	n/a
25	NFIC	chr5:43514533-43515890	GM12878	blood:	n/a	n/a
26	MYC	chr5:43514699-43516167	NB4	blood:	n/a	n/a
27	GABPA	chr5:43514623-43515902	SK-N-SH	brain:	n/a	n/a
28	STAT3	chr5:43514637-43516011	Hela-S3	cervix:	n/a	chr5:43515260-43515267
29	TCF7L2	chr5:43514851-43515953	PANC-1	pancreas:	n/a	chr5:43515407-43515421
30	EP300	chr5:43514710-43515967	K562	blood:	n/a	chr5:43515291-43515298 chr5:43514766-43514774 chr5:43515351-43515360
31	GTF2F1	chr5:43514597-43516174	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr5:43514425-43515917	PFSK-1	brain:	n/a	n/a
33	CHD1	chr5:43514656-43515923	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:43515769-43516097	HepG2	liver:	n/a	n/a
35	MAX	chr5:43514640-43516222	HCT-116	colon:	n/a	n/a
36	POLR2A	chr5:43514706-43516082	GM12878	blood:	n/a	n/a
37	MXI1	chr5:43514627-43515931	GM12878	blood:	n/a	n/a
38	RFX5	chr5:43514558-43516085	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr5:43514632-43516366	GM12878	blood:	n/a	n/a
40	POLR2A	chr5:43514609-43516112	HL-60	blood:	n/a	n/a
41	PML	chr5:43514561-43515946	K562	blood:	n/a	n/a
42	YY1	chr5:43514783-43516183	SK-N-SH	brain:	n/a	chr5:43515318-43515332 chr5:43516012-43516024
43	POLR2A	chr5:43514782-43515925	HCT-116	colon:	n/a	n/a
44	MAX	chr5:43514661-43516200	NB4	blood:	n/a	n/a
45	YY1	chr5:43515806-43516183	SK-N-SH_RA	brain:	n/a	chr5:43516012-43516024
46	POLR2A	chr5:43514639-43516030	GM18505	blood:	n/a	n/a
47	ZKSCAN1	chr5:43514979-43515936	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr5:43515802-43516171	Hela-S3	cervix:	n/a	n/a
49	TBP	chr5:43514600-43515975	H1-hESC	embryonic stem cell:	n/a	n/a
50	PML	chr5:43514481-43516085	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43515805-43515855	GM12892	blood:	n/a
2	chr5:43515805-43515855	HEEpiC	esophagus:	n/a
3	chr5:43515805-43515855	AG09319	gingival:	n/a
4	chr5:43515805-43515855	NT2-D1	testis:	n/a
5	chr5:43515805-43515855	PFSK-1	brain:	n/a
6	chr5:43515805-43515855	CMK	blood:	n/a
7	chr5:43515805-43515855	GM06990	blood:	n/a
8	chr5:43515805-43515855	BE2_C	brain:	n/a
9	chr5:43515805-43515855	HRPEpiC	eye:	n/a
10	chr5:43515805-43515855	SK-N-MC	brain:	n/a
11	chr5:43515805-43515855	HIPEpiC	eye:	n/a
12	chr5:43515805-43515855	HUVEC	blood vessel:	n/a
13	chr5:43515805-43515855	HCT-116	colon:	n/a
14	chr5:43515805-43515855	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:43515805-43515855	MCF-7	breast:	n/a
16	chr5:43515805-43515855	HCPEpiC	choroid plexus:	n/a
17	chr5:43515805-43515855	HAEpiC	amniotic membrane:	n/a
18	chr5:43515805-43515855	BJ	skin:	n/a
19	chr5:43515805-43515855	SK-N-SH	brain:	n/a
20	chr5:43515805-43515855	NB4	blood:	n/a
21	chr5:43515805-43515855	HCM	heart:	n/a
22	chr5:43515805-43515855	Caco-2	colon:	n/a
23	chr5:43515805-43515855	HRCEpiC	kidney:	n/a
24	chr5:43515805-43515855	HEK293	kidney:	embryo
25	chr5:43515805-43515855	U87	brain:	n/a
26	chr5:43515805-43515855	Jurkat	blood:	n/a
27	chr5:43515805-43515855	IMR90	lung:	fetal
28	chr5:43515805-43515855	RPTEC	kidney:	n/a
29	chr5:43515805-43515855	HMEC	breast:	n/a
30	chr5:43515805-43515855	NH-A	brain:	n/a
31	chr5:43515805-43515855	ProgFib	skin:	n/a
32	chr5:43515805-43515855	K562	blood:	n/a
33	chr5:43515805-43515855	GM19239	blood:	n/a
34	chr5:43515805-43515855	AG04450	lung:	fetal
35	chr5:43515805-43515855	Hela-S3	cervix:	n/a
36	chr5:43515805-43515855	AG04449	skin:	fetal
37	chr5:43515805-43515855	A549	lung:	n/a
38	chr5:43515805-43515855	GM12878	blood:	n/a
39	chr5:43515805-43515855	Hepatocyte	liver:	n/a
40	chr5:43515805-43515855	HCF	heart:	n/a
41	chr5:43515805-43515855	HNPCEpiC	eye:	n/a
42	chr5:43515805-43515855	HRE	kidney:	n/a
43	chr5:43515805-43515855	ECC-1	luminal epithelium:	n/a
44	chr5:43515805-43515855	ovcar-3	ovarian:	n/a
45	chr5:43515805-43515855	H1-hESC	embryonic stem cell:	embryo
46	chr5:43515805-43515855	NHBE	bronchial:	n/a
47	chr5:43515805-43515855	PANC-1	pancreas:	n/a
48	chr5:43515805-43515855	HepG2	liver:	n/a
49	chr5:43515805-43515855	PrEC	prostate:	n/a
50	chr5:43515805-43515855	T-47D	breast:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
2	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
3	chr1:156470720..156471325-chr5:43515481..43516077,2	Hela-S3	cervix:
4	chr5:43515581..43518178-chr5:43521503..43523427,2	K562	blood:
5	chr5:43503310..43506193-chr5:43515154..43517411,2	MCF-7	breast:
6	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
7	chr5:43513630..43515846-chr5:43533848..43535598,2	K562	blood:
8	chr5:43509258..43511697-chr5:43513556..43516037,3	MCF-7	breast:
9	chr5:43475623..43478316-chr5:43514281..43516099,2	MCF-7	breast:
10	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
11	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
12	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
13	chr5:43515775..43517317-chr5:43528629..43530666,2	MCF-7	breast:
14	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
15	chr3:9438651..9439381-chr5:43515156..43515834,2	Hela-S3	cervix:
16	chr5:43482545..43485280-chr5:43513880..43516299,2	MCF-7	breast:
17	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
18	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
19	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:

No data

Variant related genes	Relation type
C5orf34	TF binding region
C5orf34	CpG island
ENSG00000248554	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000168137	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000249492	Chromatin interaction

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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43513800-43516000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr5:43513800-43516000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:43513800-43516600	Active TSS	GM12878-XiMat	blood
4	chr5:43514000-43516000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:43514000-43516400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:43514200-43516000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr5:43514200-43516000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:43514200-43516000	Active TSS	Fetal Muscle Trunk	muscle
9	chr5:43514200-43516000	Active TSS	HSMM	muscle
10	chr5:43514200-43516200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:43514200-43516200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr5:43514200-43516200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:43514200-43516200	Active TSS	Right Atrium	heart
14	chr5:43514400-43516000	Active TSS	Fetal Muscle Leg	muscle
15	chr5:43514400-43516000	Active TSS	Psoas Muscle	Psoas
16	chr5:43514400-43516000	Active TSS	Right Ventricle	heart
17	chr5:43514400-43516400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:43514600-43516000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:43514600-43516000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr5:43514600-43516000	Active TSS	Aorta	Aorta
21	chr5:43514600-43516000	Active TSS	Left Ventricle	heart
22	chr5:43514600-43516000	Active TSS	Pancreas	Pancrea
23	chr5:43514600-43516200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:43514600-43516200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:43514600-43516200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr5:43514800-43516200	Active TSS	Fetal Kidney	kidney
27	chr5:43515000-43516200	Active TSS	Brain Anterior Caudate	brain
28	chr5:43515000-43516200	Active TSS	Duodenum Mucosa	Duodenum
29	chr5:43515400-43516000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr5:43515400-43516000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:43515400-43516000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr5:43515400-43516400	Flanking Active TSS	Hela-S3	cervix
33	chr5:43515400-43523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:43515400-43524000	Weak transcription	Spleen	Spleen
35	chr5:43515600-43516000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr5:43515600-43516000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:43515600-43516000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr5:43515600-43516000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr5:43515600-43516000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:43515600-43516000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr5:43515600-43516000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:43515600-43516000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr5:43515600-43516000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr5:43515600-43516000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr5:43515600-43516000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr5:43515600-43516000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr5:43515600-43516000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:43515600-43516000	Flanking Active TSS	Liver	Liver
49	chr5:43515600-43516000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr5:43515600-43516000	Flanking Active TSS	Brain Substantia Nigra	brain

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