Variant report

Variant	rs45618133
Chromosome Location	chr2:234600424-234600425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 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	MYC	chr2:234599922-234600501	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:234599993-234600592	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr2:234599940-234600505	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:234599871-234600511	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr2:234600013-234600560	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:234600122-234600580	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr2:234599994-234600438	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr2:234599995-234600433	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr2:234600254-234600491	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:234600037-234600944	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234600423-234600473	HRE	kidney:	n/a
2	chr2:234600423-234600473	NHDF-neo	bronchial:	n/a
3	chr2:234600423-234600473	HIPEpiC	eye:	n/a
4	chr2:234600423-234600473	HCM	heart:	n/a
5	chr2:234600423-234600473	NB4	blood:	n/a
6	chr2:234600423-234600473	AG04450	lung:	fetal
7	chr2:234600423-234600473	HL-60	blood:	n/a
8	chr2:234600423-234600473	U87	brain:	n/a
9	chr2:234600423-234600473	GM12891	blood:	n/a
10	chr2:234600423-234600473	MCF-7	breast:	n/a
11	chr2:234600423-234600473	GM19239	blood:	n/a
12	chr2:234600423-234600473	NH-A	brain:	n/a
13	chr2:234600423-234600473	RPTEC	kidney:	n/a
14	chr2:234600423-234600473	A549	lung:	n/a
15	chr2:234600423-234600473	HUVEC	blood vessel:	n/a
16	chr2:234600423-234600473	AG09319	gingival:	n/a
17	chr2:234600423-234600473	CMK	blood:	n/a
18	chr2:234600423-234600473	HRCEpiC	kidney:	n/a
19	chr2:234600423-234600473	SKMC	muscle:	n/a
20	chr2:234600423-234600473	HCF	heart:	n/a
21	chr2:234600423-234600473	HMEC	breast:	n/a
22	chr2:234600423-234600473	Hela-S3	cervix:	n/a
23	chr2:234600423-234600473	BJ	skin:	n/a
24	chr2:234600423-234600473	Hepatocyte	liver:	n/a
25	chr2:234600423-234600473	IMR90	lung:	fetal
26	chr2:234600423-234600473	HCPEpiC	choroid plexus:	n/a
27	chr2:234600423-234600473	NT2-D1	testis:	n/a
28	chr2:234600423-234600473	H1-hESC	embryonic stem cell:	embryo
29	chr2:234600423-234600473	PANC-1	pancreas:	n/a
30	chr2:234600423-234600473	AoSMC	blood vessel:	n/a
31	chr2:234600423-234600473	HEK293	kidney:	embryo
32	chr2:234600423-234600473	HCT-116	colon:	n/a
33	chr2:234600423-234600473	HepG2	liver:	n/a
34	chr2:234600423-234600473	K562	blood:	n/a
35	chr2:234600423-234600473	Caco-2	colon:	n/a
36	chr2:234600423-234600473	ProgFib	skin:	n/a
37	chr2:234600423-234600473	Jurkat	blood:	n/a
38	chr2:234600423-234600473	AG10803	skin:	n/a
39	chr2:234600423-234600473	SK-N-SH_RA	brain:	n/a
40	chr2:234600423-234600473	AG04449	skin:	fetal
41	chr2:234600423-234600473	T-47D	breast:	n/a
42	chr2:234600423-234600473	HRPEpiC	eye:	n/a
43	chr2:234600423-234600473	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:234600423-234600473	NHBE	bronchial:	n/a
45	chr2:234600423-234600473	ECC-1	luminal epithelium:	n/a
46	chr2:234600423-234600473	PFSK-1	brain:	n/a
47	chr2:234600423-234600473	MCF10A-Er-Src	breast:	n/a
48	chr2:234600423-234600473	SAEC	small airway:	n/a
49	chr2:234600423-234600473	HEEpiC	esophagus:	n/a
50	chr2:234600423-234600473	LNCaP	prostate:	n/a

(count:11 , 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	chr2:234600369..234602177-chr2:234775436..234777156,2	MCF-7	breast:
6	chr2:234393680..234401613-chr2:234597738..234605139,18	MCF-7	breast:
7	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:
8	chr2:234578802..234581575-chr2:234598668..234600515,2	MCF-7	breast:
9	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
10	chr2:234387197..234390730-chr2:234600088..234603557,3	MCF-7	breast:
11	chr15:50714595..50716933-chr2:234599004..234601578,2	MCF-7	breast:

No data

Variant related genes	Relation type
UGT1A6	TF binding region
UGT1A6	CpG island
ENSG00000138592	Chromatin interaction
ENSG00000224814	Chromatin interaction
ENSG00000224287	Chromatin interaction
ENSG00000241635	Chromatin interaction
ENSG00000241119	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000085982	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28898572	1.00[AFR][1000 genomes];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[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28970013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45497792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45594938	1.00[AMR][1000 genomes]
rs45617840	1.00[AFR][1000 genomes];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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234596800-234600600	Enhancers	Stomach Mucosa	stomach
2	chr2:234597400-234600800	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr2:234597400-234601000	Enhancers	Hela-S3	cervix
4	chr2:234597600-234600600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:234597800-234608600	Weak transcription	Gastric	stomach
6	chr2:234598200-234600600	Weak transcription	Liver	Liver
7	chr2:234598800-234600600	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:234599200-234601000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:234599400-234600800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:234599400-234608000	Weak transcription	HUVEC	blood vessel
11	chr2:234599800-234600600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:234599800-234601000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:234600000-234600600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:234600000-234601000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:234600200-234600600	Active TSS	NHEK	skin
16	chr2:234600200-234600800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:234600200-234601400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:234600200-234601600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:234600200-234602600	Enhancers	A549	lung
20	chr2:234600400-234600600	Weak transcription	Esophagus	oesophagus
21	chr2:234600400-234600800	Flanking Active TSS	HMEC	breast
22	chr2:234600400-234601000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:234600400-234601600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:234600400-234601800	Enhancers	Colonic Mucosa	Colon
25	chr2:234600400-234608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links