Variant report

Variant	rs537323201
Chromosome Location	chr4:76862494-76862495
allele	-/TTGT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:76860858-76862599	IMR90	lung:	n/a	n/a
2	CTCF	chr4:76862046-76862597	SK-N-SH	brain:	n/a	n/a
3	MAX	chr4:76860764-76862553	HCT-116	colon:	n/a	n/a
4	E2F6	chr4:76861683-76862522	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr4:76860768-76862539	A549	lung:	n/a	n/a
6	RAD21	chr4:76861908-76862548	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr4:76860904-76862513	HCT-116	colon:	n/a	n/a
8	MAX	chr4:76860820-76862524	K562	blood:	n/a	n/a
9	CTCF	chr4:76862380-76862530	AoAF	blood vessel:	n/a	n/a
10	POLR2A	chr4:76860759-76862512	SK-N-MC	brain:	n/a	n/a
11	HA-E2F1	chr4:76860914-76862534	MCF-7	breast:	n/a	n/a
12	CTCF	chr4:76862360-76862510	HFF-Myc	foreskin:	n/a	n/a
13	POLR2A	chr4:76861717-76862503	HUVEC	blood vessel:	n/a	n/a
14	E2F6	chr4:76862044-76862567	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr4:76861023-76862507	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:76861922-76862525	A549	lung:	n/a	n/a
17	MAX	chr4:76860942-76862604	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:76597293..76598968-chr4:76860443..76862946,2	K562	blood:
2	chr4:76861526..76863582-chr4:76870984..76872556,2	K562	blood:
3	chr4:76861625..76863720-chr4:76909476..76912300,3	MCF-7	breast:

No data

Variant related genes	Relation type
NAAA	TF binding region
ENSG00000198301	Chromatin interaction
ENSG00000268788	Chromatin interaction
ENSG00000138757	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	chr4:76860600-76862600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr4:76860600-76862600	Active TSS	Colonic Mucosa	Colon
4	chr4:76860600-76862600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr4:76860600-76862600	Active TSS	Rectal Smooth Muscle	rectum
6	chr4:76860800-76862600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr4:76860800-76862600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:76860800-76862600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr4:76860800-76862600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr4:76860800-76862600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr4:76860800-76862600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:76860800-76862600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:76860800-76862600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:76860800-76862600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr4:76860800-76862600	Active TSS	Primary T cells from cord blood	blood
16	chr4:76860800-76862600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:76860800-76862600	Active TSS	Brain Anterior Caudate	brain
18	chr4:76860800-76862600	Active TSS	Brain Cingulate Gyrus	brain
19	chr4:76860800-76862600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:76860800-76862600	Active TSS	Brain Substantia Nigra	brain
21	chr4:76860800-76862600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr4:76860800-76862600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr4:76860800-76862600	Active TSS	Psoas Muscle	Psoas
24	chr4:76860800-76862600	Active TSS	K562	blood
25	chr4:76860800-76862600	Active TSS	NHLF	lung
26	chr4:76861000-76862600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:76861000-76862600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:76861000-76862600	Active TSS	Brain Germinal Matrix	brain
29	chr4:76861000-76862600	Active TSS	Fetal Intestine Large	intestine
30	chr4:76861000-76862600	Active TSS	Left Ventricle	heart
31	chr4:76861000-76862600	Active TSS	NH-A	brain
32	chr4:76861000-76862600	Active TSS	NHEK	skin
33	chr4:76861200-76862600	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr4:76861200-76862600	Active TSS	Osteobl	bone
35	chr4:76861400-76862600	Active TSS	H1 Cell Line	embryonic stem cell
36	chr4:76861400-76862600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr4:76861400-76862600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:76861400-76862600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:76861800-76862600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr4:76861800-76862600	Flanking Active TSS	Thymus	Thymus
41	chr4:76862000-76862600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:76862000-76862600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr4:76862000-76862600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:76862000-76862600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:76862000-76862600	Enhancers	Fetal Brain Male	brain
46	chr4:76862000-76863000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr4:76862000-76868200	Weak transcription	Fetal Lung	lung
48	chr4:76862000-76871600	Weak transcription	Fetal Kidney	kidney
49	chr4:76862000-76875600	Weak transcription	Fetal Heart	heart
50	chr4:76862000-76896600	Weak transcription	Stomach Mucosa	stomach

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