Variant report

Variant	rs570241813
Chromosome Location	chr4:76861533-76861534
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:76861158-76861557	PANC-1	pancreas:	n/a	n/a
2	EBF1	chr4:76861525-76861688	GM12878	blood:	n/a	n/a
3	MTA3	chr4:76861530-76862110	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:76860729-76862379	GM12892	blood:	n/a	n/a
5	NR2F2	chr4:76860929-76862406	MCF-7	breast:	n/a	n/a
6	E2F6	chr4:76861014-76861559	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr4:76860875-76861584	MCF-7	breast:	n/a	n/a
8	MXI1	chr4:76860858-76862599	IMR90	lung:	n/a	n/a
9	MAX	chr4:76860853-76862432	HepG2	liver:	n/a	n/a
10	MYC	chr4:76860970-76862320	K562	blood:	n/a	n/a
11	MAX	chr4:76860862-76862474	MCF-7	breast:	n/a	n/a
12	POLR2A	chr4:76860996-76862279	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr4:76861234-76861541	K562	blood:	n/a	n/a
14	YY1	chr4:76861474-76861630	K562	blood:	n/a	n/a
15	POLR2A	chr4:76860955-76861559	GM10847	blood:	n/a	n/a
16	POLR2A	chr4:76860943-76862413	GM19193	blood:	n/a	n/a
17	TAF1	chr4:76861516-76862389	HepG2	liver:	n/a	n/a
18	CREB1	chr4:76861239-76861754	A549	lung:	n/a	n/a
19	TCF12	chr4:76861494-76862177	A549	lung:	n/a	n/a
20	MAX	chr4:76860764-76862553	HCT-116	colon:	n/a	n/a
21	POLR2A	chr4:76860900-76862382	GM18951	blood:	n/a	n/a
22	POLR2A	chr4:76861169-76861548	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:76860905-76862315	GM19099	blood:	n/a	n/a
24	POLR2A	chr4:76860793-76862484	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr4:76861070-76862374	A549	lung:	n/a	n/a
26	POLR2A	chr4:76861100-76861599	A549	lung:	n/a	n/a
27	CCNT2	chr4:76861044-76862433	K562	blood:	n/a	n/a
28	MAZ	chr4:76861145-76862403	HepG2	liver:	n/a	n/a
29	ELF1	chr4:76860827-76862481	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:76860887-76862457	K562	blood:	n/a	n/a
31	POLR2A	chr4:76860842-76862484	HL-60	blood:	n/a	n/a
32	CHD2	chr4:76861027-76862064	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:76861092-76861575	U87	brain:	n/a	n/a
34	POLR2A	chr4:76860912-76862285	GM18526	blood:	n/a	n/a
35	HDAC2	chr4:76860870-76862421	MCF-7	breast:	n/a	n/a
36	POLR2A	chr4:76860891-76862447	MCF-7	breast:	n/a	n/a
37	MYC	chr4:76860909-76862380	NB4	blood:	n/a	n/a
38	MAX	chr4:76860768-76862539	A549	lung:	n/a	n/a
39	SMARCB1	chr4:76861007-76862340	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr4:76861507-76861714	Hela-S3	cervix:	n/a	n/a
41	MAX	chr4:76860876-76862321	NB4	blood:	n/a	n/a
42	POLR2A	chr4:76860890-76862482	GM12892	blood:	n/a	n/a
43	MAX	chr4:76861142-76861790	A549	lung:	n/a	n/a
44	CEBPB	chr4:76861526-76862079	Hela-S3	cervix:	n/a	n/a
45	ZBTB7A	chr4:76861195-76862410	ECC-1	luminal epithelium:	n/a	n/a
46	CREB1	chr4:76861054-76862479	H1-hESC	embryonic stem cell:	n/a	n/a
47	TCF7L2	chr4:76861526-76862113	PANC-1	pancreas:	n/a	n/a
48	TAF1	chr4:76861124-76861592	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr4:76861092-76862294	MCF-7	breast:	n/a	n/a
50	POLR2A	chr4:76860909-76861712	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76597293..76598968-chr4:76860443..76862946,2	K562	blood:
2	chr4:76860116..76861672-chr4:77068138..77069757,2	MCF-7	breast:
3	chr4:76861526..76863582-chr4:76870984..76872556,2	K562	blood:
4	chr4:76860117..76861999-chr4:76911234..76914144,3	K562	blood:
5	chr4:76857067..76859381-chr4:76860422..76862398,2	K562	blood:
6	chr4:76859621..76862443-chr4:76895909..76899158,3	K562	blood:

No data

Variant related genes	Relation type
NAAA	TF binding region
ENSG00000138744	Chromatin interaction
ENSG00000268788	Chromatin interaction
ENSG00000138757	Chromatin interaction
ENSG00000138750	Chromatin interaction
ENSG00000198301	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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv3396277	chr4:76861228-76865426	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 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	chr4:76860400-76862600	Active TSS	A549	lung
2	chr4:76860600-76861800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:76860600-76862000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:76860600-76862400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:76860600-76862600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr4:76860600-76862600	Active TSS	Colonic Mucosa	Colon
7	chr4:76860600-76862600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr4:76860600-76862600	Active TSS	Rectal Smooth Muscle	rectum
9	chr4:76860800-76861600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:76860800-76862000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:76860800-76862000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr4:76860800-76862000	Active TSS	Fetal Heart	heart
13	chr4:76860800-76862000	Active TSS	Fetal Kidney	kidney
14	chr4:76860800-76862000	Active TSS	Fetal Lung	lung
15	chr4:76860800-76862000	Flanking Active TSS	HMEC	breast
16	chr4:76860800-76862200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr4:76860800-76862200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:76860800-76862200	Active TSS	Placenta Amnion	Placenta Amnion
19	chr4:76860800-76862200	Active TSS	NHDF-Ad	bronchial
20	chr4:76860800-76862400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:76860800-76862400	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr4:76860800-76862400	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr4:76860800-76862400	Active TSS	Brain Angular Gyrus	brain
24	chr4:76860800-76862400	Active TSS	Esophagus	oesophagus
25	chr4:76860800-76862400	Active TSS	Fetal Brain Female	brain
26	chr4:76860800-76862400	Active TSS	Ovary	ovary
27	chr4:76860800-76862400	Active TSS	Right Ventricle	heart
28	chr4:76860800-76862400	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr4:76860800-76862400	Active TSS	Hela-S3	cervix
30	chr4:76860800-76862600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr4:76860800-76862600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:76860800-76862600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr4:76860800-76862600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr4:76860800-76862600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr4:76860800-76862600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:76860800-76862600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:76860800-76862600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:76860800-76862600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr4:76860800-76862600	Active TSS	Primary T cells from cord blood	blood
40	chr4:76860800-76862600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:76860800-76862600	Active TSS	Brain Anterior Caudate	brain
42	chr4:76860800-76862600	Active TSS	Brain Cingulate Gyrus	brain
43	chr4:76860800-76862600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr4:76860800-76862600	Active TSS	Brain Substantia Nigra	brain
45	chr4:76860800-76862600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr4:76860800-76862600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr4:76860800-76862600	Active TSS	Psoas Muscle	Psoas
48	chr4:76860800-76862600	Active TSS	K562	blood
49	chr4:76860800-76862600	Active TSS	NHLF	lung
50	chr4:76861000-76861600	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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