Variant report

Variant	rs539307433
Chromosome Location	chr4:95679895-95679896
allele	C/T
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	JUND	chr4:95679784-95680004	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr4:95679346-95680179	A549	lung:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
3	MXI1	chr4:95677488-95681982	SK-N-SH	brain:	n/a	chr4:95679721-95679730
4	MAX	chr4:95678600-95680454	A549	lung:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
5	ZBTB7A	chr4:95679462-95679921	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr4:95678575-95680180	IMR90	lung:	n/a	chr4:95679721-95679730
7	RAD21	chr4:95679377-95679935	H1-hESC	embryonic stem cell:	n/a	n/a
8	HA-E2F1	chr4:95678701-95680381	MCF-7	breast:	n/a	chr4:95679542-95679552 chr4:95679544-95679553 chr4:95680197-95680204 chr4:95679618-95679630 chr4:95679539-95679549
9	POLR2A	chr4:95678205-95680130	MCF10A-Er-Src	breast:	n/a	n/a
10	TBP	chr4:95679611-95680338	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr4:95678812-95680327	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF143	chr4:95679304-95680279	H1-hESC	embryonic stem cell:	n/a	chr4:95679720-95679738
13	POLR2A	chr4:95678719-95680358	A549	lung:	n/a	n/a
14	POLR2A	chr4:95679005-95679905	A549	lung:	n/a	n/a
15	POLR2A	chr4:95679628-95680442	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr4:95678919-95679972	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:95678828-95679924	HEK293	kidney:	n/a	n/a
18	TCF12	chr4:95679460-95681991	A549	lung:	n/a	chr4:95679721-95679731
19	TAF1	chr4:95679876-95680431	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr4:95677993-95680028	IMR90	lung:	n/a	chr4:95679126-95679136 chr4:95679131-95679141
21	REST	chr4:95679598-95680542	A549	lung:	n/a	chr4:95679686-95679699
22	MYC	chr4:95679165-95680339	A549	lung:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
23	POLR2A	chr4:95678486-95680216	MCF10A-Er-Src	breast:	n/a	n/a
24	TAF1	chr4:95679397-95680588	A549	lung:	n/a	n/a
25	E2F6	chr4:95679062-95680154	H1-hESC	embryonic stem cell:	n/a	chr4:95679542-95679552 chr4:95679544-95679553 chr4:95679618-95679630 chr4:95679539-95679549
26	POLR2A	chr4:95679238-95679950	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOSL2	chr4:95679587-95680387	A549	lung:	n/a	chr4:95679676-95679685 chr4:95680374-95680384
28	ZNF263	chr4:95679259-95680394	HEK293-T-REx	kidney:	n/a	n/a
29	MAX	chr4:95679105-95679909	H1-hESC	embryonic stem cell:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
30	SIN3A	chr4:95679493-95680310	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr4:95678772-95680183	H1-hESC	embryonic stem cell:	n/a	chr4:95679542-95679552 chr4:95679544-95679553 chr4:95679618-95679630 chr4:95679539-95679549
32	MAX	chr4:95679238-95680318	H1-hESC	embryonic stem cell:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
33	MAX	chr4:95679283-95680051	A549	lung:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567

No.	Distal block	Cell Line	Cell type
1	chr4:95679588..95681847-chr4:96013272..96015095,2	MCF-7	breast:
2	chr4:95679187..95680719-chr4:95971290..95974263,2	MCF-7	breast:
3	chr4:95678678..95680883-chr4:96023985..96026151,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249599	TF binding region
ENSG00000138696	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv3407255	chr4:95677954-95680802	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv12742	chr4:95678933-95679943	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95677800-95681800	Active TSS	A549	lung
2	chr4:95678000-95680000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:95678000-95680200	Active TSS	NH-A	brain
4	chr4:95678000-95682000	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:95678200-95680000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:95678200-95680400	Active TSS	Aorta	Aorta
7	chr4:95678200-95680400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr4:95678200-95680400	Active TSS	HMEC	breast
9	chr4:95678400-95680000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:95678400-95680000	Bivalent/Poised TSS	Thymus	Thymus
11	chr4:95678400-95680200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:95678400-95680200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:95678400-95680400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr4:95678400-95680600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr4:95678400-95680600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr4:95678400-95680600	Active TSS	Ovary	ovary
17	chr4:95678400-95680800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:95678400-95680800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:95678600-95680000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:95678600-95680000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:95678600-95680000	Bivalent/Poised TSS	Left Ventricle	heart
22	chr4:95678600-95680200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr4:95678600-95680200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr4:95678600-95680200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
25	chr4:95678600-95680400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:95678600-95680400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:95678600-95680400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:95678600-95680400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr4:95678600-95680400	Active TSS	Brain Substantia Nigra	brain
30	chr4:95678600-95680400	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr4:95678600-95680400	Active TSS	Pancreas	Pancrea
32	chr4:95678600-95680600	Active TSS	Brain Anterior Caudate	brain
33	chr4:95678600-95680600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr4:95678600-95680600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
35	chr4:95678800-95680000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:95678800-95680000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:95678800-95680000	Active TSS	Brain Cingulate Gyrus	brain
38	chr4:95678800-95680000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:95678800-95680000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
40	chr4:95678800-95680000	Active TSS	Psoas Muscle	Psoas
41	chr4:95678800-95680000	Active TSS	HSMMtube	muscle
42	chr4:95678800-95680200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr4:95678800-95680200	Bivalent/Poised TSS	NHLF	lung
44	chr4:95678800-95680400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr4:95678800-95680400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr4:95678800-95680400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:95678800-95680600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
48	chr4:95679000-95680000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr4:95679000-95680000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
50	chr4:95679000-95680400	Bivalent/Poised TSS	Osteobl	bone

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