Variant report

Variant	rs35418611
Chromosome Location	chr4:95680033-95680034
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	MAX	chr4:95679346-95680179	A549	lung:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
2	TAF1	chr4:95679975-95680391	PFSK-1	brain:	n/a	n/a
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	MXI1	chr4:95678575-95680180	IMR90	lung:	n/a	chr4:95679721-95679730
6	RAD21	chr4:95679957-95680320	SK-N-SH_RA	brain:	n/a	n/a
7	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
8	POLR2A	chr4:95678205-95680130	MCF10A-Er-Src	breast:	n/a	n/a
9	SP1	chr4:95680026-95680605	A549	lung:	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	RAD21	chr4:95680004-95680456	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr4:95679628-95680442	PFSK-1	brain:	n/a	n/a
16	TCF12	chr4:95679460-95681991	A549	lung:	n/a	chr4:95679721-95679731
17	TAF1	chr4:95679876-95680431	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr4:95679598-95680542	A549	lung:	n/a	chr4:95679686-95679699
19	MYC	chr4:95679165-95680339	A549	lung:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
20	POLR2A	chr4:95678486-95680216	MCF10A-Er-Src	breast:	n/a	n/a
21	TAF1	chr4:95679397-95680588	A549	lung:	n/a	n/a
22	E2F6	chr4:95679062-95680154	H1-hESC	embryonic stem cell:	n/a	chr4:95679542-95679552 chr4:95679544-95679553 chr4:95679618-95679630 chr4:95679539-95679549
23	KAP1	chr4:95679949-95681335	HEK293	kidney:	n/a	n/a
24	POLR2A	chr4:95679944-95680034	A549	lung:	n/a	n/a
25	FOSL2	chr4:95679587-95680387	A549	lung:	n/a	chr4:95679676-95679685 chr4:95680374-95680384
26	ZNF263	chr4:95679259-95680394	HEK293-T-REx	kidney:	n/a	n/a
27	CHD2	chr4:95679975-95680315	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIN3A	chr4:95679493-95680310	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F6	chr4:95678772-95680183	H1-hESC	embryonic stem cell:	n/a	chr4:95679542-95679552 chr4:95679544-95679553 chr4:95679618-95679630 chr4:95679539-95679549
30	MAX	chr4:95679238-95680318	H1-hESC	embryonic stem cell:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
31	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	chr4:95679956..95681773-chr4:96032755..96034458,2	MCF-7	breast:
2	chr4:95679588..95681847-chr4:96013272..96015095,2	MCF-7	breast:
3	chr4:95679939..95682877-chr4:95683215..95684845,2	MCF-7	breast:
4	chr4:95679187..95680719-chr4:95971290..95974263,2	MCF-7	breast:
5	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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10516955	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17022098	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17022123	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66816682	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72669028	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72669047	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95677800-95681800	Active TSS	A549	lung
2	chr4:95678000-95680200	Active TSS	NH-A	brain
3	chr4:95678000-95682000	Active TSS	Stomach Smooth Muscle	stomach
4	chr4:95678200-95680400	Active TSS	Aorta	Aorta
5	chr4:95678200-95680400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr4:95678200-95680400	Active TSS	HMEC	breast
7	chr4:95678400-95680200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:95678400-95680200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:95678400-95680400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:95678400-95680600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr4:95678400-95680600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr4:95678400-95680600	Active TSS	Ovary	ovary
13	chr4:95678400-95680800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:95678400-95680800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr4:95678600-95680200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr4:95678600-95680200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr4:95678600-95680200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
18	chr4:95678600-95680400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:95678600-95680400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:95678600-95680400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:95678600-95680400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr4:95678600-95680400	Active TSS	Brain Substantia Nigra	brain
23	chr4:95678600-95680400	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr4:95678600-95680400	Active TSS	Pancreas	Pancrea
25	chr4:95678600-95680600	Active TSS	Brain Anterior Caudate	brain
26	chr4:95678600-95680600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr4:95678600-95680600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
28	chr4:95678800-95680200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr4:95678800-95680200	Bivalent/Poised TSS	NHLF	lung
30	chr4:95678800-95680400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr4:95678800-95680400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr4:95678800-95680400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:95678800-95680600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
34	chr4:95679000-95680400	Bivalent/Poised TSS	Osteobl	bone
35	chr4:95679000-95680600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr4:95679200-95680200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:95679400-95680200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:95679400-95680200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:95679600-95680200	Bivalent Enhancer	Fetal Heart	heart
40	chr4:95679600-95680200	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr4:95679600-95680400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:95679600-95680400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr4:95679600-95680400	Flanking Bivalent TSS/Enh	Dnd41	blood
44	chr4:95679600-95680600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr4:95679600-95680600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:95679600-95680600	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr4:95679600-95680800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:95679600-95680800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr4:95679600-95681600	Bivalent/Poised TSS	Fetal Kidney	kidney
50	chr4:95679800-95680200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung

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