Variant report

Variant	rs553976306
Chromosome Location	chr4:47915736-47915737
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr4:47915207-47916041	K562	blood:	n/a	n/a
2	RELA	chr4:47915447-47917043	GM15510	blood:	n/a	n/a
3	CUX1	chr4:47915340-47915860	K562	blood:	n/a	n/a
4	POLR2A	chr4:47915664-47917000	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr4:47915702-47916084	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3AK20	chr4:47915690-47917128	MCF-7	breast:	n/a	n/a
7	ZEB1	chr4:47915710-47917010	GM12878	blood:	n/a	chr4:47915954-47915961 chr4:47916921-47916933 chr4:47916923-47916930
8	POLR2A	chr4:47915723-47916962	MCF-7	breast:	n/a	n/a
9	POLR2A	chr4:47915516-47917078	NB4	blood:	n/a	n/a
10	POLR2A	chr4:47915717-47916948	MCF-7	breast:	n/a	n/a
11	MAX	chr4:47915367-47917156	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:47915370-47917105	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:47915699-47916867	GM12892	blood:	n/a	n/a
14	MXI1	chr4:47915452-47917184	HepG2	liver:	n/a	n/a
15	POLR2A	chr4:47915315-47917247	GM12891	blood:	n/a	n/a
16	MAX	chr4:47915344-47917165	K562	blood:	n/a	n/a
17	MAX	chr4:47915655-47917169	HCT-116	colon:	n/a	n/a
18	ZMIZ1	chr4:47915441-47915768	K562	blood:	n/a	n/a
19	MAX	chr4:47915718-47917144	A549	lung:	n/a	n/a
20	POLR2A	chr4:47915685-47917110	K562	blood:	n/a	n/a
21	MAX	chr4:47915714-47917303	HepG2	liver:	n/a	n/a
22	HA-E2F1	chr4:47915663-47917138	MCF-7	breast:	n/a	chr4:47916758-47916767
23	TBP	chr4:47915351-47917221	K562	blood:	n/a	n/a
24	POLR2A	chr4:47915575-47917172	MCF10A-Er-Src	breast:	n/a	n/a
25	TCF7L2	chr4:47915492-47917111	HCT-116	colon:	n/a	chr4:47915784-47915798
26	SETDB1	chr4:47915113-47917096	K562	blood:	n/a	chr4:47916758-47916767 chr4:47916788-47916812
27	TBP	chr4:47915425-47916035	HepG2	liver:	n/a	n/a
28	KAP1	chr4:47915226-47917155	HEK293	kidney:	n/a	n/a
29	E2F6	chr4:47915550-47917214	K562	blood:	n/a	chr4:47916758-47916767
30	E2F4	chr4:47915688-47917374	MCF10A-Er-Src	breast:	n/a	chr4:47916571-47916582 chr4:47916758-47916767
31	CHD1	chr4:47915660-47916592	H1-hESC	embryonic stem cell:	n/a	n/a
32	RUNX3	chr4:47915721-47917111	GM12878	blood:	n/a	n/a
33	HCFC1	chr4:47915341-47917371	Hela-S3	cervix:	n/a	n/a
34	WRNIP1	chr4:47915501-47917073	GM12878	blood:	n/a	n/a
35	CCNT2	chr4:47915457-47916167	K562	blood:	n/a	n/a
36	MYC	chr4:47915413-47916122	MCF10A-Er-Src	breast:	n/a	n/a
37	MXI1	chr4:47915166-47917322	IMR90	lung:	n/a	n/a
38	POLR2A	chr4:47915369-47917060	HepG2	liver:	n/a	n/a
39	SREBP1	chr4:47915452-47917966	GM12878	blood:	n/a	n/a
40	MTA3	chr4:47915465-47917257	GM12878	blood:	n/a	n/a
41	ARID3A	chr4:47915555-47915809	HepG2	liver:	n/a	n/a
42	MAX	chr4:47915736-47917097	MCF-7	breast:	n/a	n/a
43	MYC	chr4:47915478-47917099	K562	blood:	n/a	n/a
44	POLR2A	chr4:47915727-47917073	H1-neurons	neurons:	n/a	n/a
45	TRIM28	chr4:47915242-47915936	K562	blood:	n/a	n/a
46	TBP	chr4:47915400-47915962	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr4:47915130-47917127	K562	blood:	n/a	n/a
48	MYC	chr4:47915385-47917613	K562	blood:	n/a	n/a
49	MAX	chr4:47915494-47917224	ECC-1	luminal epithelium:	n/a	n/a
50	RCOR1	chr4:47915338-47915984	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:47915701-47915751	HPAEpiC	pulmonary alveolar:	n/a
2	chr4:47915701-47915751	ProgFib	skin:	n/a
3	chr4:47915701-47915751	HRPEpiC	eye:	n/a
4	chr4:47915701-47915751	HCT-116	colon:	n/a
5	chr4:47915701-47915751	GM12892	blood:	n/a
6	chr4:47915701-47915751	IMR90	lung:	fetal
7	chr4:47915701-47915751	HIPEpiC	eye:	n/a
8	chr4:47915701-47915751	NH-A	brain:	n/a
9	chr4:47915701-47915751	Jurkat	blood:	n/a
10	chr4:47915701-47915751	HNPCEpiC	eye:	n/a
11	chr4:47915701-47915751	LNCaP	prostate:	n/a
12	chr4:47915701-47915751	NT2-D1	testis:	n/a
13	chr4:47915701-47915751	GM12878	blood:	n/a
14	chr4:47915701-47915751	SK-N-MC	brain:	n/a
15	chr4:47915701-47915751	RPTEC	kidney:	n/a
16	chr4:47915701-47915751	PrEC	prostate:	n/a
17	chr4:47915701-47915751	SK-N-SH	brain:	n/a
18	chr4:47915701-47915751	SK-N-SH_RA	brain:	n/a
19	chr4:47915701-47915751	ECC-1	luminal epithelium:	n/a
20	chr4:47915701-47915751	HL-60	blood:	n/a
21	chr4:47915701-47915751	K562	blood:	n/a
22	chr4:47915701-47915751	T-47D	breast:	n/a
23	chr4:47915701-47915751	HEK293	kidney:	embryo
24	chr4:47915701-47915751	AG10803	skin:	n/a
25	chr4:47915701-47915751	GM12891	blood:	n/a
26	chr4:47915701-47915751	ovcar-3	ovarian:	n/a
27	chr4:47915701-47915751	Hepatocyte	liver:	n/a
28	chr4:47915701-47915751	CMK	blood:	n/a
29	chr4:47915701-47915751	HCM	heart:	n/a
30	chr4:47915701-47915751	PFSK-1	brain:	n/a
31	chr4:47915701-47915751	HepG2	liver:	n/a
32	chr4:47915701-47915751	NB4	blood:	n/a
33	chr4:47915701-47915751	AG04449	skin:	fetal
34	chr4:47915701-47915751	AG09309	skin:	n/a
35	chr4:47915701-47915751	SKMC	muscle:	n/a
36	chr4:47915701-47915751	AG09319	gingival:	n/a
37	chr4:47915701-47915751	HCPEpiC	choroid plexus:	n/a
38	chr4:47915701-47915751	HMEC	breast:	n/a
39	chr4:47915701-47915751	HRCEpiC	kidney:	n/a
40	chr4:47915701-47915751	HEEpiC	esophagus:	n/a
41	chr4:47915701-47915751	Caco-2	colon:	n/a
42	chr4:47915701-47915751	Hela-S3	cervix:	n/a
43	chr4:47915701-47915751	HUVEC	blood vessel:	n/a
44	chr4:47915701-47915751	SAEC	small airway:	n/a
45	chr4:47915701-47915751	AoSMC	blood vessel:	n/a
46	chr4:47915701-47915751	A549	lung:	n/a
47	chr4:47915701-47915751	HAEpiC	amniotic membrane:	n/a
48	chr4:47915701-47915751	BE2_C	brain:	n/a
49	chr4:47915701-47915751	BJ	skin:	n/a
50	chr4:47915701-47915751	PANC-1	pancreas:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71842665..71843234-chr4:47915439..47916090,2	Hela-S3	cervix:
2	chr4:47914296..47917191-chr4:48017364..48021197,5	MCF-7	breast:
3	chr4:47915045..47916605-chr4:48017433..48018940,2	MCF-7	breast:

No data

Variant related genes	Relation type
NIPAL1	TF binding region
NIPAL1	CpG island
ENSG00000163293	Chromatin interaction
ENSG00000198515	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594118	chr4:47560386-47917730	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr4:47876800-47915800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:47913400-47917200	Active TSS	Muscle Satellite Cultured Cells	--
3	chr4:47914200-47917400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:47914400-47917000	Active TSS	GM12878-XiMat	blood
5	chr4:47914400-47917400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:47914400-47917600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr4:47914400-47917600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr4:47915000-47916000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:47915000-47916000	Flanking Active TSS	Dnd41	blood
10	chr4:47915000-47916000	Flanking Active TSS	HUVEC	blood vessel
11	chr4:47915000-47916000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr4:47915000-47916800	Active TSS	NHLF	lung
13	chr4:47915000-47917200	Active TSS	HMEC	breast
14	chr4:47915000-47917400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr4:47915000-47917400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr4:47915000-47917400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr4:47915000-47917600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr4:47915200-47915800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:47915200-47915800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:47915200-47915800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr4:47915200-47915800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:47915200-47915800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr4:47915200-47915800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr4:47915200-47915800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr4:47915200-47915800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:47915200-47915800	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr4:47915200-47915800	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr4:47915200-47915800	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr4:47915200-47915800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr4:47915200-47915800	Flanking Active TSS	Fetal Heart	heart
31	chr4:47915200-47915800	Flanking Active TSS	Fetal Lung	lung
32	chr4:47915200-47915800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:47915200-47915800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr4:47915200-47915800	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr4:47915200-47915800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr4:47915200-47915800	Enhancers	Small Intestine	intestine
37	chr4:47915200-47915800	Enhancers	Spleen	Spleen
38	chr4:47915200-47915800	Flanking Active TSS	NH-A	brain
39	chr4:47915200-47916000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:47915200-47916000	Active TSS	Primary hematopoietic stem cells	blood
41	chr4:47915200-47916000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:47915200-47916000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:47915200-47916000	Flanking Active TSS	Liver	Liver
44	chr4:47915200-47916000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr4:47915200-47916000	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr4:47915200-47916000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr4:47915200-47916000	Flanking Active TSS	Fetal Brain Male	brain
48	chr4:47915200-47916000	Active TSS	Fetal Muscle Trunk	muscle
49	chr4:47915200-47916000	Flanking Active TSS	Right Ventricle	heart
50	chr4:47915200-47916000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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