Variant report

Variant	rs574837550
Chromosome Location	chr1:161053093-161053094
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	CEBPB	chr1:161053083-161054036	IMR90	lung:	n/a	n/a
2	CREB1	chr1:161052967-161053498	GM12878	blood:	n/a	chr1:161053219-161053232
3	USF1	chr1:161053027-161053615	A549	lung:	n/a	n/a
4	SMC3	chr1:161052915-161053674	Hela-S3	cervix:	n/a	n/a
5	NR2F2	chr1:161052979-161053788	MCF-7	breast:	n/a	n/a
6	CREB1	chr1:161052930-161053596	HepG2	liver:	n/a	chr1:161053219-161053232
7	SRF	chr1:161052999-161053701	MCF-7	breast:	n/a	chr1:161053531-161053541
8	GTF2F1	chr1:161053013-161053710	Hela-S3	cervix:	n/a	n/a
9	MAX	chr1:161053081-161053465	A549	lung:	n/a	n/a
10	MAX	chr1:161053052-161053716	A549	lung:	n/a	n/a
11	MAX	chr1:161052976-161053638	Hela-S3	cervix:	n/a	n/a
12	ZNF263	chr1:161052826-161053581	HEK293-T-REx	kidney:	n/a	chr1:161053387-161053396 chr1:161053363-161053372 chr1:161053175-161053184
13	GATA3	chr1:161052781-161053846	MCF-7	breast:	n/a	n/a
14	CEBPB	chr1:161053064-161053678	A549	lung:	n/a	n/a
15	CBX3	chr1:161053076-161053651	K562	blood:	n/a	n/a
16	NR3C1	chr1:161053070-161053645	A549	lung:	n/a	chr1:161053426-161053435 chr1:161053489-161053498 chr1:161053427-161053436
17	JUN	chr1:161052875-161053607	Hela-S3	cervix:	n/a	chr1:161053426-161053436 chr1:161053217-161053230 chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053256-161053269 chr1:161053427-161053435 chr1:161053426-161053436 chr1:161053221-161053230
18	CEBPB	chr1:161053058-161053738	A549	lung:	n/a	n/a
19	CREB1	chr1:161052978-161053563	HepG2	liver:	n/a	chr1:161053219-161053232
20	EP300	chr1:161053090-161053788	T-47D	breast:	n/a	chr1:161053327-161053337
21	MAFK	chr1:161052980-161053353	K562	blood:	n/a	chr1:161053217-161053234 chr1:161053211-161053222
22	CEBPB	chr1:161052323-161054117	HCT-116	colon:	n/a	n/a
23	KAP1	chr1:161052929-161053542	U2OS	brain:	n/a	chr1:161053425-161053434
24	NR3C1	chr1:161053075-161053687	A549	lung:	n/a	chr1:161053426-161053435 chr1:161053489-161053498 chr1:161053427-161053436
25	POLR2A	chr1:161053081-161053638	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:161053079-161053680	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:161053044-161053582	U87	brain:	n/a	n/a
28	CREB1	chr1:161052923-161053590	ECC-1	luminal epithelium:	n/a	chr1:161053219-161053232
29	SMARCC1	chr1:161053019-161054357	Hela-S3	cervix:	n/a	chr1:161053426-161053435
30	CEBPB	chr1:161052692-161053980	HCT-116	colon:	n/a	n/a
31	JUN	chr1:161053067-161053553	HepG2	liver:	n/a	chr1:161053426-161053436 chr1:161053217-161053230 chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053256-161053269 chr1:161053427-161053435 chr1:161053426-161053436 chr1:161053221-161053230
32	SP1	chr1:161052897-161053767	A549	lung:	n/a	chr1:161053384-161053398
33	EP300	chr1:161053026-161053637	A549	lung:	n/a	chr1:161053327-161053337
34	MAX	chr1:161052714-161054419	MCF-7	breast:	n/a	n/a
35	ATF1	chr1:161052984-161053558	K562	blood:	n/a	n/a
36	JUND	chr1:161053028-161053652	K562	blood:	n/a	chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053427-161053435 chr1:161053426-161053436 chr1:161053221-161053230
37	MAX	chr1:161052950-161053791	A549	lung:	n/a	n/a
38	JUN	chr1:161052522-161053776	K562	blood:	n/a	chr1:161053426-161053436 chr1:161053217-161053230 chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053256-161053269 chr1:161053427-161053435 chr1:161053426-161053436 chr1:161053221-161053230
39	ATF3	chr1:161053027-161053547	K562	blood:	n/a	chr1:161053218-161053233
40	FOXA1	chr1:161053065-161053724	T-47D	breast:	n/a	n/a
41	CEBPB	chr1:161052932-161053700	Hela-S3	cervix:	n/a	n/a
42	FOXP2	chr1:161053084-161053578	PFSK-1	brain:	n/a	n/a
43	HDAC2	chr1:161053063-161053567	HepG2	liver:	n/a	chr1:161053079-161053093
44	CREB1	chr1:161053039-161053360	H1-hESC	embryonic stem cell:	n/a	chr1:161053219-161053232
45	NFIC	chr1:161053084-161053783	ECC-1	luminal epithelium:	n/a	chr1:161053726-161053754
46	JUN	chr1:161053056-161053609	K562	blood:	n/a	chr1:161053426-161053436 chr1:161053217-161053230 chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053256-161053269 chr1:161053427-161053435 chr1:161053426-161053436 chr1:161053221-161053230
47	ZNF263	chr1:161053085-161053589	K562	blood:	n/a	chr1:161053387-161053396 chr1:161053363-161053372 chr1:161053175-161053184
48	MYC	chr1:161053061-161053581	MCF10A-Er-Src	breast:	n/a	n/a
49	FOSL2	chr1:161053080-161053797	MCF-7	breast:	n/a	chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053427-161053435 chr1:161053426-161053436 chr1:161053221-161053230
50	FOSL2	chr1:161053088-161053790	MCF-7	breast:	n/a	chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053427-161053435 chr1:161053426-161053436 chr1:161053221-161053230

No.	Distal block	Cell Line	Cell type
1	chr1:161015304..161016112-chr1:161053054..161053924,2	MCF-7	breast:
2	chr1:161051876..161054238-chr1:161125249..161127981,2	K562	blood:
3	chr1:161052998..161054950-chr1:161128036..161130636,2	MCF-7	breast:
4	chr1:161051697..161056385-chr1:161085679..161090534,7	K562	blood:
5	chr1:160989645..160990508-chr1:161052915..161053846,2	MCF-7	breast:
6	chr1:161052309..161054886-chr1:161086826..161089196,2	MCF-7	breast:
7	chr1:161051125..161053415-chr1:161074658..161077254,2	MCF-7	breast:
8	chr1:161014972..161017157-chr1:161051557..161054618,4	MCF-7	breast:
9	chr1:161012288..161019472-chr1:161047717..161055328,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228917	TF binding region
ENSG00000143258	Chromatin interaction
ENSG00000224985	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000158793	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv988172	chr1:161051918-161055508	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161039600-161066800	Weak transcription	Right Atrium	heart
2	chr1:161045000-161053200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:161047400-161053400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:161049000-161055000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:161049200-161055600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:161049400-161053600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:161049400-161056400	Enhancers	HMEC	breast
8	chr1:161049400-161056600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:161049600-161054600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:161049800-161054600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:161050000-161057800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:161050200-161055800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:161050400-161053600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:161050600-161053600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:161051000-161054800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:161051000-161055800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:161051200-161053800	Enhancers	Stomach Mucosa	stomach
18	chr1:161051200-161055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:161052200-161053400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:161052200-161054400	Enhancers	Gastric	stomach
21	chr1:161052200-161058400	Enhancers	Pancreas	Pancrea
22	chr1:161052400-161054200	Enhancers	Lung	lung
23	chr1:161052400-161055400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:161052400-161055400	Enhancers	Fetal Intestine Small	intestine
25	chr1:161052400-161055400	Enhancers	A549	lung
26	chr1:161052400-161055400	Enhancers	NHDF-Ad	bronchial
27	chr1:161052400-161057000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:161052600-161054400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr1:161052600-161055400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:161052600-161055400	Enhancers	HSMMtube	muscle
31	chr1:161052600-161055400	Enhancers	Osteobl	bone
32	chr1:161052600-161055800	Enhancers	HSMM	muscle
33	chr1:161052600-161056200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:161052600-161056400	Enhancers	K562	blood
35	chr1:161052600-161056600	Enhancers	Fetal Intestine Large	intestine
36	chr1:161052800-161053200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:161052800-161053200	Flanking Active TSS	Esophagus	oesophagus
38	chr1:161052800-161053200	Flanking Active TSS	Placenta	Placenta
39	chr1:161052800-161053200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:161052800-161053400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:161052800-161053600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:161052800-161053800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:161052800-161053800	Flanking Active TSS	Hela-S3	cervix
44	chr1:161052800-161053800	Flanking Active TSS	NHEK	skin
45	chr1:161052800-161054200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr1:161052800-161054200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr1:161052800-161054400	Enhancers	Colonic Mucosa	Colon
48	chr1:161052800-161055200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:161052800-161055400	Enhancers	NH-A	brain
50	chr1:161052800-161055400	Enhancers	NHLF	lung

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