Variant report

Variant	rs2866783
Chromosome Location	chr4:106817415-106817416
allele	A/C
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	RAD21	chr4:106816796-106817857	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:106817047-106817939	H1-neurons	neurons:	n/a	n/a
3	CTBP2	chr4:106815602-106817837	H1-hESC	embryonic stem cell:	n/a	n/a
4	PML	chr4:106815939-106818208	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:106816111-106817950	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:106816132-106817974	GM18526	blood:	n/a	n/a
7	CREB1	chr4:106816933-106817854	GM12878	blood:	n/a	n/a
8	RUNX3	chr4:106815766-106818157	GM12878	blood:	n/a	n/a
9	ZNF263	chr4:106815627-106817896	HEK293-T-REx	kidney:	n/a	chr4:106816907-106816916
10	CTCF	chr4:106817400-106817550	GM06990	blood:	n/a	n/a
11	HA-E2F1	chr4:106815880-106818135	MCF-7	breast:	n/a	chr4:106816088-106816095 chr4:106816519-106816528 chr4:106817591-106817603 chr4:106817064-106817078 chr4:106817215-106817223 chr4:106816543-106816553 chr4:106817216-106817223 chr4:106816088-106816095 chr4:106817216-106817223 chr4:106816088-106816095 chr4:106817216-106817223 chr4:106817215-106817224 chr4:106816908-106816923 chr4:106817215-106817223 chr4:106817067-106817081
12	FOXM1	chr4:106816935-106817582	GM12878	blood:	n/a	n/a
13	BCLAF1	chr4:106817065-106817847	GM12878	blood:	n/a	chr4:106817236-106817245
14	POLR2A	chr4:106817367-106817632	MCF-7	breast:	n/a	n/a
15	MAX	chr4:106817286-106817808	MCF-7	breast:	n/a	n/a
16	ZNF143	chr4:106816635-106817577	GM12878	blood:	n/a	n/a
17	POLR2A	chr4:106816113-106817811	GM12878	blood:	n/a	n/a
18	CTCF	chr4:106817380-106817530	GM12865	blood:	n/a	n/a
19	CTCF	chr4:106817400-106817550	SK-N-SH_RA	brain:	n/a	n/a
20	GATA3	chr4:106816618-106818819	MCF-7	breast:	n/a	chr4:106818035-106818047 chr4:106818036-106818045 chr4:106818038-106818045 chr4:106818036-106818046
21	E2F6	chr4:106817409-106817830	H1-hESC	embryonic stem cell:	n/a	chr4:106817591-106817603
22	NFIC	chr4:106816445-106817721	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:106816140-106817693	GM18505	blood:	n/a	n/a
24	POLR2A	chr4:106816078-106818016	GM19099	blood:	n/a	n/a
25	FOXM1	chr4:106816988-106817496	GM12878	blood:	n/a	n/a
26	E2F6	chr4:106815969-106817807	H1-hESC	embryonic stem cell:	n/a	chr4:106816088-106816095 chr4:106816519-106816528 chr4:106817591-106817603 chr4:106817064-106817078 chr4:106817215-106817223 chr4:106816543-106816553 chr4:106817216-106817223 chr4:106816088-106816095 chr4:106817216-106817223 chr4:106816088-106816095 chr4:106817216-106817223 chr4:106817215-106817224 chr4:106816908-106816923 chr4:106817215-106817223 chr4:106817067-106817081
27	MTA3	chr4:106817118-106818043	GM12878	blood:	n/a	n/a
28	ELF1	chr4:106816067-106817888	GM12878	blood:	n/a	chr4:106817301-106817313 chr4:106816206-106816218 chr4:106816617-106816629
29	RUNX3	chr4:106816720-106817732	GM12878	blood:	n/a	n/a
30	ZEB1	chr4:106817361-106817969	GM12878	blood:	n/a	n/a
31	SIN3A	chr4:106817217-106817934	H1-hESC	embryonic stem cell:	n/a	n/a
32	MTA3	chr4:106815901-106818134	GM12878	blood:	n/a	n/a
33	EP300	chr4:106817303-106817438	HepG2	liver:	n/a	n/a
34	BCL3	chr4:106817113-106817684	GM12878	blood:	n/a	chr4:106817236-106817245
35	STAT5A	chr4:106816543-106817843	GM12878	blood:	n/a	n/a
36	STAT5A	chr4:106817316-106817967	GM12878	blood:	n/a	n/a
37	SUZ12	chr4:106816071-106817788	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr4:106816107-106817844	MCF-7	breast:	n/a	n/a
39	TCF3	chr4:106817412-106817710	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:106816128-106817776	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:106817271-106818027	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr4:106816074-106817749	GM12892	blood:	n/a	n/a
43	CTCF	chr4:106817300-106817450	GM12867	blood:	n/a	n/a
44	SIN3AK20	chr4:106815818-106818678	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106393662..106395828-chr4:106816451..106818779,3	MCF-7	breast:
2	chr4:106628392..106631014-chr4:106816298..106818181,3	MCF-7	breast:

Variant related genes	Relation type
NPNT	TF binding region
INTS12	TF binding region
ENSG00000138785	Chromatin interaction
ENSG00000138777	Chromatin interaction
ENSG00000138780	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2216519	0.85[AFR][1000 genomes]
rs2544428	0.85[AFR][1000 genomes]
rs2553444	0.85[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106815400-106818200	Active TSS	Duodenum Mucosa	Duodenum
2	chr4:106815600-106818000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr4:106815800-106817600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr4:106815800-106817600	Active TSS	Fetal Kidney	kidney
5	chr4:106815800-106817800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr4:106815800-106817800	Active TSS	Pancreas	Pancrea
7	chr4:106815800-106818000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr4:106815800-106818000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:106815800-106818200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:106815800-106818600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:106815800-106818600	Active TSS	GM12878-XiMat	blood
12	chr4:106815800-106819200	Active TSS	Aorta	Aorta
13	chr4:106816000-106817600	Bivalent/Poised TSS	HepG2	liver
14	chr4:106816000-106817800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:106816000-106817800	Bivalent Enhancer	Liver	Liver
16	chr4:106816000-106817800	Active TSS	Brain Substantia Nigra	brain
17	chr4:106816000-106817800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
18	chr4:106816000-106818000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr4:106816000-106818000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr4:106816000-106818000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:106816000-106818000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:106816000-106818000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:106816000-106818000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:106816000-106818000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:106816000-106818000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:106816000-106818000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:106816000-106818000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
28	chr4:106816000-106818000	Active TSS	Esophagus	oesophagus
29	chr4:106816000-106818000	Active TSS	Lung	lung
30	chr4:106816000-106818000	Active TSS	Psoas Muscle	Psoas
31	chr4:106816000-106818000	Active TSS	Right Atrium	heart
32	chr4:106816000-106818200	Active TSS	Fetal Heart	heart
33	chr4:106816000-106818200	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr4:106816000-106818800	Active TSS	Fetal Intestine Small	intestine
35	chr4:106816200-106817600	Bivalent/Poised TSS	Small Intestine	intestine
36	chr4:106816200-106817600	Bivalent/Poised TSS	A549	lung
37	chr4:106816200-106817600	Bivalent/Poised TSS	NHLF	lung
38	chr4:106816200-106817800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:106816200-106817800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:106816200-106817800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:106816200-106817800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr4:106816200-106817800	Flanking Bivalent TSS/Enh	HMEC	breast
43	chr4:106816200-106818000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr4:106816200-106818000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:106816200-106818000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:106816200-106818200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
47	chr4:106816400-106817600	Bivalent Enhancer	Fetal Brain Male	brain
48	chr4:106816400-106817800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:106816400-106818000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:106816400-106818000	Bivalent/Poised TSS	HSMM	muscle

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