Variant report

Variant	rs45594938
Chromosome Location	chr2:234600150-234600151
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:122)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:234599992-234600616	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:234599743-234600471	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr2:234599821-234600425	MCF-7	breast:	n/a	n/a
4	MAX	chr2:234599875-234600395	MCF-7	breast:	n/a	n/a
5	MYC	chr2:234599922-234600501	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr2:234599993-234600592	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:234599940-234600505	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr2:234599871-234600511	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr2:234600013-234600560	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr2:234600126-234600344	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr2:234600122-234600580	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr2:234599994-234600438	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr2:234600119-234600411	MCF-7	breast:	n/a	n/a
14	STAT3	chr2:234599995-234600433	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr2:234599991-234600408	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:234600037-234600944	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234600147-234600197	HEK293	kidney:	embryo
2	chr2:234600147-234600197	HepG2	liver:	n/a
3	chr2:234600147-234600197	HCT-116	colon:	n/a
4	chr2:234600147-234600197	HNPCEpiC	eye:	n/a
5	chr2:234600149-234600199	GM12878	blood:	n/a
6	chr2:234600149-234600199	LNCaP	prostate:	n/a
7	chr2:234600147-234600197	HCF	heart:	n/a
8	chr2:234600147-234600197	SK-N-SH	brain:	n/a
9	chr2:234600147-234600197	AG04449	skin:	fetal
10	chr2:234600147-234600197	HRE	kidney:	n/a
11	chr2:234600147-234600197	HL-60	blood:	n/a
12	chr2:234600147-234600197	H1-hESC	embryonic stem cell:	embryo
13	chr2:234600149-234600199	GM12891	blood:	n/a
14	chr2:234600147-234600197	NHBE	bronchial:	n/a
15	chr2:234600149-234600199	HCM	heart:	n/a
16	chr2:234600149-234600199	HL-60	blood:	n/a
17	chr2:234600149-234600199	NH-A	brain:	n/a
18	chr2:234600149-234600199	GM06990	blood:	n/a
19	chr2:234600149-234600199	HUVEC	blood vessel:	n/a
20	chr2:234600147-234600197	Hepatocyte	liver:	n/a
21	chr2:234600147-234600197	HRPEpiC	eye:	n/a
22	chr2:234600147-234600197	HRCEpiC	kidney:	n/a
23	chr2:234600149-234600199	K562	blood:	n/a
24	chr2:234600149-234600199	HRE	kidney:	n/a
25	chr2:234600147-234600197	HCM	heart:	n/a
26	chr2:234600147-234600197	PFSK-1	brain:	n/a
27	chr2:234600147-234600197	AG09309	skin:	n/a
28	chr2:234600147-234600197	MCF10A-Er-Src	breast:	n/a
29	chr2:234600149-234600199	NT2-D1	testis:	n/a
30	chr2:234600147-234600197	SK-N-MC	brain:	n/a
31	chr2:234600147-234600197	NT2-D1	testis:	n/a
32	chr2:234600147-234600197	HAEpiC	amniotic membrane:	n/a
33	chr2:234600149-234600199	ECC-1	luminal epithelium:	n/a
34	chr2:234600147-234600197	NH-A	brain:	n/a
35	chr2:234600147-234600197	GM06990	blood:	n/a
36	chr2:234600147-234600197	ProgFib	skin:	n/a
37	chr2:234600147-234600197	AG10803	skin:	n/a
38	chr2:234600147-234600197	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:234600149-234600199	Hepatocyte	liver:	n/a
40	chr2:234600149-234600199	HRCEpiC	kidney:	n/a
41	chr2:234600149-234600199	PrEC	prostate:	n/a
42	chr2:234600149-234600199	HNPCEpiC	eye:	n/a
43	chr2:234600149-234600199	MCF-7	breast:	n/a
44	chr2:234600149-234600199	AG04449	skin:	fetal
45	chr2:234600149-234600199	GM12892	blood:	n/a
46	chr2:234600147-234600197	SKMC	muscle:	n/a
47	chr2:234600147-234600197	MCF-7	breast:	n/a
48	chr2:234600149-234600199	HIPEpiC	eye:	n/a
49	chr2:234600149-234600199	PANC-1	pancreas:	n/a
50	chr2:234600149-234600199	BE2_C	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234356284..234357802-chr2:234598772..234601558,2	MCF-7	breast:
2	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
3	chr2:234473282..234477495-chr2:234598048..234603332,9	MCF-7	breast:
4	chr2:234388753..234400184-chr2:234596527..234603213,35	MCF-7	breast:
5	chr2:234393680..234401613-chr2:234597738..234605139,18	MCF-7	breast:
6	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:
7	chr2:234578802..234581575-chr2:234598668..234600515,2	MCF-7	breast:
8	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
9	chr2:234387197..234390730-chr2:234600088..234603557,3	MCF-7	breast:
10	chr15:50714595..50716933-chr2:234599004..234601578,2	MCF-7	breast:

No data

Variant related genes	Relation type
UGT1A6	TF binding region
UGT1A6	CpG island
ENSG00000224814	Chromatin interaction
ENSG00000085982	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000241119	Chromatin interaction
ENSG00000241635	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28505045	1.00[AMR][1000 genomes]
rs28898569	1.00[AMR][1000 genomes]
rs28898572	1.00[AMR][1000 genomes]
rs28898586	1.00[AMR][1000 genomes]
rs28898588	1.00[AMR][1000 genomes]
rs28898592	1.00[AMR][1000 genomes]
rs28898597	1.00[AMR][1000 genomes]
rs28898607	1.00[AMR][1000 genomes]
rs28898610	1.00[AMR][1000 genomes]
rs28899169	1.00[AMR][1000 genomes]
rs28899172	1.00[AMR][1000 genomes]
rs28899180	1.00[AMR][1000 genomes]
rs28899184	1.00[AMR][1000 genomes]
rs28899185	1.00[AMR][1000 genomes]
rs28969714	1.00[AMR][1000 genomes]
rs28970013	1.00[AMR][1000 genomes]
rs45497792	1.00[AMR][1000 genomes]
rs45617840	1.00[AMR][1000 genomes]
rs45618133	1.00[AMR][1000 genomes]
rs6735370	1.00[AMR][1000 genomes]
rs6746419	1.00[AMR][1000 genomes]

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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv876016	chr2:234590527-234601669	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234596800-234600600	Enhancers	Stomach Mucosa	stomach
2	chr2:234597000-234600400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr2:234597400-234600800	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr2:234597400-234601000	Enhancers	Hela-S3	cervix
5	chr2:234597600-234600600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:234597800-234608600	Weak transcription	Gastric	stomach
7	chr2:234598200-234600400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:234598200-234600400	Enhancers	HMEC	breast
9	chr2:234598200-234600600	Weak transcription	Liver	Liver
10	chr2:234598400-234600200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:234598400-234600200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:234598800-234600600	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:234599200-234600200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:234599200-234601000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:234599400-234600800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:234599400-234608000	Weak transcription	HUVEC	blood vessel
17	chr2:234599600-234600200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:234599600-234600200	Genic enhancers	A549	lung
19	chr2:234599800-234600200	Enhancers	NHEK	skin
20	chr2:234599800-234600400	Enhancers	Esophagus	oesophagus
21	chr2:234599800-234600600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:234599800-234601000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:234600000-234600400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:234600000-234600400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:234600000-234600400	Flanking Active TSS	Colonic Mucosa	Colon
26	chr2:234600000-234600600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:234600000-234601000	Enhancers	HUES6 Cell Line	embryonic stem cell

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