Variant report

Variant	rs569523277
Chromosome Location	chr5:49962515-49962516
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	chr5:49961594-49964348	GM18526	blood:	n/a	n/a
2	TCF3	chr5:49962214-49964093	GM12878	blood:	n/a	chr5:49963139-49963153
3	POLR2A	chr5:49962175-49964285	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:49962403-49962998	HCT-116	colon:	n/a	n/a
5	PAX5	chr5:49962448-49963044	GM12878	blood:	n/a	n/a
6	EP300	chr5:49962458-49962870	H1-hESC	embryonic stem cell:	n/a	chr5:49962538-49962547
7	POLR2A	chr5:49962189-49964764	GM12892	blood:	n/a	n/a
8	POLR2A	chr5:49961505-49964690	GM12891	blood:	n/a	n/a
9	TCF7L2	chr5:49962272-49964233	HCT-116	colon:	n/a	n/a
10	POLR2A	chr5:49962201-49964373	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:49962143-49963976	HL-60	blood:	n/a	n/a
12	MAZ	chr5:49961945-49964411	IMR90	lung:	n/a	chr5:49963252-49963261 chr5:49963676-49963685
13	TEAD4	chr5:49962448-49962906	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:49962177-49964902	GM12892	blood:	n/a	n/a
15	POLR2A	chr5:49962114-49964801	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:49962284-49962831	ProgFib	skin:	n/a	n/a
17	POLR2A	chr5:49961626-49964340	GM15510	blood:	n/a	n/a
18	TCF12	chr5:49962300-49964205	GM12878	blood:	n/a	n/a
19	BHLHE40	chr5:49962310-49962966	GM12878	blood:	n/a	chr5:49962437-49962453 chr5:49962350-49962366 chr5:49962434-49962450 chr5:49962398-49962414 chr5:49962351-49962367 chr5:49962358-49962374
20	JUND	chr5:49962459-49962796	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr5:49961280-49964895	GM12892	blood:	n/a	n/a
22	POLR2A	chr5:49962166-49964359	GM12878	blood:	n/a	n/a
23	ELF1	chr5:49962138-49963932	GM12878	blood:	n/a	chr5:49963440-49963452 chr5:49963351-49963363
24	POLR2A	chr5:49962314-49962760	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr5:49962268-49962719	GM12878	blood:	n/a	n/a
26	MXI1	chr5:49962473-49962626	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:49962439-49962876	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:49962184-49964822	GM12892	blood:	n/a	n/a
29	CTCF	chr5:49962476-49962655	GM12891	blood:	n/a	n/a
30	POU2F2	chr5:49962288-49964584	GM12878	blood:	n/a	chr5:49962360-49962372
31	YY1	chr5:49962441-49962911	H1-hESC	embryonic stem cell:	n/a	chr5:49962542-49962551 chr5:49962537-49962551 chr5:49962536-49962550
32	RELA	chr5:49962276-49964270	GM12891	blood:	n/a	chr5:49963663-49963672 chr5:49963663-49963672
33	POLR2A	chr5:49962388-49964845	GM12891	blood:	n/a	n/a
34	SIN3AK20	chr5:49962171-49962842	PANC-1	pancreas:	n/a	n/a
35	TCF7L2	chr5:49962332-49962637	PANC-1	pancreas:	n/a	n/a
36	ZBTB7A	chr5:49962175-49962696	ECC-1	luminal epithelium:	n/a	n/a
37	BCLAF1	chr5:49962387-49962943	GM12878	blood:	n/a	chr5:49962434-49962447 chr5:49962538-49962551 chr5:49962542-49962555 chr5:49962441-49962454
38	POLR2A	chr5:49962149-49964349	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:49961583-49964252	GM18951	blood:	n/a	n/a
40	POLR2A	chr5:49961694-49964516	NB4	blood:	n/a	n/a
41	POLR2A	chr5:49961584-49964392	GM12892	blood:	n/a	n/a
42	POLR2A	chr5:49962504-49964262	GM12878	blood:	n/a	n/a
43	YY1	chr5:49962260-49962703	GM12892	blood:	n/a	chr5:49962360-49962371 chr5:49962379-49962388 chr5:49962542-49962551 chr5:49962432-49962443 chr5:49962537-49962551 chr5:49962400-49962411 chr5:49962536-49962550 chr5:49962439-49962453
44	POU2F2	chr5:49962121-49964334	GM12891	blood:	n/a	chr5:49962360-49962372
45	MXI1	chr5:49962074-49964153	IMR90	lung:	n/a	chr5:49963676-49963691 chr5:49963674-49963689
46	POLR2A	chr5:49962098-49964853	GM12891	blood:	n/a	n/a
47	POLR2A	chr5:49962313-49964137	IMR90	lung:	n/a	n/a
48	POLR2A	chr5:49961304-49964881	GM12878	blood:	n/a	n/a
49	RUNX3	chr5:49962446-49963359	GM12878	blood:	n/a	n/a
50	SIN3AK20	chr5:49962451-49962796	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:49962507-49962557	SK-N-SH_RA	brain:	n/a
2	chr5:49962507-49962557	K562	blood:	n/a
3	chr5:49962509-49962559	Hela-S3	cervix:	n/a
4	chr5:49962509-49962559	CMK	blood:	n/a
5	chr5:49962507-49962557	SK-N-SH	brain:	n/a
6	chr5:49962507-49962557	HCM	heart:	n/a
7	chr5:49962507-49962557	IMR90	lung:	fetal
8	chr5:49962507-49962557	GM12878	blood:	n/a
9	chr5:49962509-49962559	HCPEpiC	choroid plexus:	n/a
10	chr5:49962507-49962557	BJ	skin:	n/a
11	chr5:49962507-49962557	ECC-1	luminal epithelium:	n/a
12	chr5:49962507-49962557	SK-N-MC	brain:	n/a
13	chr5:49962509-49962559	ECC-1	luminal epithelium:	n/a
14	chr5:49962507-49962557	HepG2	liver:	n/a
15	chr5:49962507-49962557	U87	brain:	n/a
16	chr5:49962507-49962557	PrEC	prostate:	n/a
17	chr5:49962509-49962559	HL-60	blood:	n/a
18	chr5:49962507-49962557	HIPEpiC	eye:	n/a
19	chr5:49962507-49962557	RPTEC	kidney:	n/a
20	chr5:49962509-49962559	NB4	blood:	n/a
21	chr5:49962509-49962559	GM19239	blood:	n/a
22	chr5:49962507-49962557	PANC-1	pancreas:	n/a
23	chr5:49962509-49962559	HRCEpiC	kidney:	n/a
24	chr5:49962509-49962559	SKMC	muscle:	n/a
25	chr5:49962507-49962557	ProgFib	skin:	n/a
26	chr5:49962509-49962559	HRPEpiC	eye:	n/a
27	chr5:49962507-49962557	BE2_C	brain:	n/a
28	chr5:49962509-49962559	HUVEC	blood vessel:	n/a
29	chr5:49962509-49962559	AoSMC	blood vessel:	n/a
30	chr5:49962509-49962559	GM12878	blood:	n/a
31	chr5:49962507-49962557	Caco-2	colon:	n/a
32	chr5:49962507-49962557	NHDF-neo	bronchial:	n/a
33	chr5:49962509-49962559	Hepatocyte	liver:	n/a
34	chr5:49962509-49962559	AG10803	skin:	n/a
35	chr5:49962509-49962559	HEK293	kidney:	embryo
36	chr5:49962509-49962559	AG09319	gingival:	n/a
37	chr5:49962509-49962559	NH-A	brain:	n/a
38	chr5:49962507-49962557	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:49962507-49962557	NT2-D1	testis:	n/a
40	chr5:49962509-49962559	RPTEC	kidney:	n/a
41	chr5:49962507-49962557	SKMC	muscle:	n/a
42	chr5:49962509-49962559	HRE	kidney:	n/a
43	chr5:49962509-49962559	AG04450	lung:	fetal
44	chr5:49962509-49962559	HPAEpiC	pulmonary alveolar:	n/a
45	chr5:49962509-49962559	IMR90	lung:	fetal
46	chr5:49962509-49962559	HNPCEpiC	eye:	n/a
47	chr5:49962507-49962557	HRPEpiC	eye:	n/a
48	chr5:49962507-49962557	HCPEpiC	choroid plexus:	n/a
49	chr5:49962507-49962557	HAEpiC	amniotic membrane:	n/a
50	chr5:49962507-49962557	AG04450	lung:	fetal

Variant related genes	Relation type
ENSG00000271752	TF binding region
PARP8	TF binding region
ENSG00000271752	CpG island
PARP8	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
5	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv818352	chr5:49958221-50017724	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
12	nsv968172	chr5:49961360-49966431	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv968910	chr5:49961360-49980983	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49961600-49963000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:49961600-49963000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:49961600-49963200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr5:49961600-49964400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:49961600-49964600	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr5:49961600-49964800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr5:49961600-49964800	Active TSS	Duodenum Mucosa	Duodenum
8	chr5:49961600-49965200	Active TSS	GM12878-XiMat	blood
9	chr5:49961600-49965400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:49961800-49962600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr5:49961800-49962600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr5:49961800-49962600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:49961800-49963000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:49961800-49964400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:49961800-49964400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:49961800-49964400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:49961800-49964400	Active TSS	Colon Smooth Muscle	Colon
18	chr5:49961800-49964400	Active TSS	Esophagus	oesophagus
19	chr5:49961800-49964400	Active TSS	Fetal Stomach	stomach
20	chr5:49961800-49964400	Active TSS	Rectal Smooth Muscle	rectum
21	chr5:49961800-49964400	Active TSS	Right Atrium	heart
22	chr5:49961800-49964400	Active TSS	Small Intestine	intestine
23	chr5:49961800-49964400	Active TSS	Hela-S3	cervix
24	chr5:49961800-49964400	Active TSS	HSMMtube	muscle
25	chr5:49961800-49964400	Active TSS	NH-A	brain
26	chr5:49961800-49964600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:49961800-49964600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr5:49961800-49964600	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr5:49961800-49964600	Active TSS	Liver	Liver
30	chr5:49961800-49964600	Active TSS	Brain Germinal Matrix	brain
31	chr5:49961800-49964600	Active TSS	Fetal Brain Female	brain
32	chr5:49961800-49964600	Active TSS	Fetal Kidney	kidney
33	chr5:49961800-49964600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:49961800-49964800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:49961800-49964800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:49961800-49964800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:49961800-49964800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:49961800-49964800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:49961800-49964800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:49961800-49964800	Active TSS	Brain Angular Gyrus	brain
41	chr5:49961800-49964800	Active TSS	Brain Cingulate Gyrus	brain
42	chr5:49961800-49964800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:49961800-49964800	Active TSS	NHDF-Ad	bronchial
44	chr5:49961800-49964800	Active TSS	NHLF	lung
45	chr5:49961800-49965000	Active TSS	H1 Cell Line	embryonic stem cell
46	chr5:49961800-49965000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:49961800-49965400	Active TSS	Thymus	Thymus
48	chr5:49961800-49965400	Active TSS	HMEC	breast
49	chr5:49962000-49962800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:49962000-49962800	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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