Variant report

Variant	rs67776122
Chromosome Location	chr4:106062415-106062416
allele	A/G
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	chr4:106062037-106062416	SK-N-SH_RA	brain:	n/a	chr4:106062233-106062252
2	RAD21	chr4:106062063-106062460	Hela-S3	cervix:	n/a	chr4:106062233-106062252
3	SMC3	chr4:106062071-106062447	K562	blood:	n/a	n/a
4	RAD21	chr4:106062092-106062449	K562	blood:	n/a	chr4:106062233-106062252
5	RAD21	chr4:106062029-106062530	MCF-7	breast:	n/a	chr4:106062233-106062252
6	SMC3	chr4:106061958-106062499	GM12878	blood:	n/a	n/a
7	MBD4	chr4:106062074-106062521	HepG2	liver:	n/a	n/a
8	RAD21	chr4:106062017-106062441	H1-hESC	embryonic stem cell:	n/a	chr4:106062233-106062252
9	RAD21	chr4:106061965-106062564	HepG2	liver:	n/a	chr4:106062233-106062252
10	POLR2A	chr4:106062267-106062427	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr4:106062126-106062442	MCF-7	breast:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
12	RAD21	chr4:106062060-106062462	H1-hESC	embryonic stem cell:	n/a	chr4:106062233-106062252
13	MAZ	chr4:106062100-106062440	K562	blood:	n/a	n/a
14	ZNF143	chr4:106062076-106062436	GM12878	blood:	n/a	n/a
15	RXRA	chr4:106062139-106062429	H1-hESC	embryonic stem cell:	n/a	chr4:106062314-106062327 chr4:106062314-106062327 chr4:106062311-106062331
16	CTCF	chr4:106062110-106062431	Medullo	brain:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
17	CTCF	chr4:106062034-106062477	K562	blood:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
18	RAD21	chr4:106061935-106062513	HCT-116	colon:	n/a	chr4:106062233-106062252
19	RCOR1	chr4:106062110-106062458	K562	blood:	n/a	n/a
20	CTCF	chr4:106061824-106062636	SK-N-SH	brain:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
21	CTCF	chr4:106062320-106062470	HAc	cerebellar:	n/a	n/a
22	RAD21	chr4:106061957-106062464	IMR90	lung:	n/a	chr4:106062233-106062252
23	EP300	chr4:106062129-106062450	K562	blood:	n/a	n/a
24	CTCF	chr4:106062004-106062480	HepG2	liver:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
25	RAD21	chr4:106062038-106062613	A549	lung:	n/a	chr4:106062233-106062252
26	RAD21	chr4:106062110-106062493	MCF-7	breast:	n/a	chr4:106062233-106062252
27	CTCF	chr4:106062037-106062501	IMR90	lung:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
28	RAD21	chr4:106062027-106062506	A549	lung:	n/a	chr4:106062233-106062252
29	SMC3	chr4:106062043-106062490	HepG2	liver:	n/a	n/a
30	CTCF	chr4:106062030-106062513	MCF-7	breast:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
31	RAD21	chr4:106061794-106062971	SK-N-SH	brain:	n/a	chr4:106062233-106062252
32	CTCF	chr4:106062003-106062511	K562	blood:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
33	ARID3A	chr4:106062086-106062444	K562	blood:	n/a	n/a
34	RXRA	chr4:106062129-106062447	HepG2	liver:	n/a	chr4:106062314-106062327 chr4:106062314-106062327 chr4:106062311-106062331
35	CTCF	chr4:106062091-106062426	H1-hESC	embryonic stem cell:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
36	SMC3	chr4:106061780-106062899	SK-N-SH	brain:	n/a	n/a
37	RXRA	chr4:106062088-106062482	H1-hESC	embryonic stem cell:	n/a	chr4:106062314-106062327 chr4:106062314-106062327 chr4:106062311-106062331
38	RAD21	chr4:106061977-106062575	HCT-116	colon:	n/a	chr4:106062233-106062252
39	RAD21	chr4:106062031-106062460	GM12878	blood:	n/a	chr4:106062233-106062252
40	CTCF	chr4:106061900-106062686	A549	lung:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
41	RAD21	chr4:106062030-106062550	ECC-1	luminal epithelium:	n/a	chr4:106062233-106062252
42	NR2F2	chr4:106062057-106062450	K562	blood:	n/a	n/a
43	HNF4A	chr4:106062166-106062466	HepG2	liver:	n/a	chr4:106062315-106062327
44	CUX1	chr4:106061985-106062477	K562	blood:	n/a	n/a
45	ARID3A	chr4:106062065-106062437	HepG2	liver:	n/a	n/a
46	RAD21	chr4:106062016-106062551	ECC-1	luminal epithelium:	n/a	chr4:106062233-106062252
47	CTCF	chr4:106062026-106062458	GM12878	blood:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
48	RAD21	chr4:106062038-106062454	GM12878	blood:	n/a	chr4:106062233-106062252
49	CTCF	chr4:106061998-106062451	A549	lung:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250
50	CTCF	chr4:106061947-106062598	HCT-116	colon:	n/a	chr4:106062234-106062255 chr4:106062233-106062249 chr4:106062232-106062250

No.	Distal block	Cell Line	Cell type
1	chr4:106061873..106062614-chr4:106394835..106395808,2	K562	blood:
2	chr4:105812145..105831361-chr4:106062414..106073665,101	MCF-7	breast:
3	chr4:106057698..106064116-chr4:106066476..106070338,7	K562	blood:
4	chr4:106061142..106064736-chr4:106066504..106068895,4	K562	blood:
5	chr4:105884036..105898505-chr4:106054854..106072562,138	MCF-7	breast:
6	chr4:106061821..106062508-chr4:106392423..106393188,2	K562	blood:

Variant related genes	Relation type
TET2	TF binding region
ENSG00000251259	TF binding region
ENSG00000251906	Chromatin interaction
ENSG00000248242	Chromatin interaction
ENSG00000248373	Chromatin interaction
ENSG00000168769	Chromatin interaction
ENSG00000138777	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17035323	0.91[EUR][1000 genomes]
rs1986799	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1986800	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4698934	0.81[EUR][1000 genomes]
rs4699160	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72665913	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72665914	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72665916	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72665920	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72665924	0.92[EUR][1000 genomes]
rs72665926	0.90[EUR][1000 genomes]
rs72665928	0.86[EUR][1000 genomes]
rs72665931	0.81[EUR][1000 genomes]
rs72665935	0.82[EUR][1000 genomes]
rs7655049	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]

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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106059200-106064200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:106059400-106065600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:106060400-106062800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:106060800-106062600	Enhancers	GM12878-XiMat	blood
5	chr4:106061400-106062600	Enhancers	NHEK	skin
6	chr4:106061600-106064600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:106061800-106064000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:106061800-106064600	Weak transcription	Primary B cells from cord blood	blood
9	chr4:106061800-106067000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:106062000-106064600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:106062000-106064800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:106062200-106062600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr4:106062200-106067000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:106062400-106062600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:106062400-106062600	Enhancers	HepG2	liver
16	chr4:106062400-106064600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:106062400-106066200	Weak transcription	Fetal Lung	lung
18	chr4:106062400-106066400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:106062400-106066400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:106062400-106066600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:106062400-106066600	Weak transcription	Osteobl	bone
22	chr4:106062400-106066800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:106062400-106066800	Weak transcription	HMEC	breast

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