Variant report

Variant	rs45568235
Chromosome Location	chr2:234601095-234601096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234601005-234601290	MCF-7	breast:	n/a	n/a

No data

(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	chr2:234600369..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	chr2:234597435..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
ENSG00000077044	Chromatin interaction
ENSG00000224814	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000085982	Chromatin interaction
ENSG00000224287	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10182818	1.00[EUR][1000 genomes]
rs13389374	1.00[EUR][1000 genomes]
rs13390054	1.00[EUR][1000 genomes]
rs13395852	1.00[EUR][1000 genomes]
rs13398912	1.00[EUR][1000 genomes]
rs13401703	1.00[EUR][1000 genomes]
rs13403667	1.00[EUR][1000 genomes]
rs13406202	1.00[EUR][1000 genomes]
rs28898571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28898573	1.00[EUR][1000 genomes]
rs28898598	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28899474	1.00[EUR][1000 genomes]
rs28899479	1.00[EUR][1000 genomes]
rs28900378	1.00[EUR][1000 genomes]
rs28900380	1.00[EUR][1000 genomes]
rs28900396	1.00[EUR][1000 genomes]
rs28968515	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28969703	1.00[EUR][1000 genomes]
rs28969712	1.00[EUR][1000 genomes]
rs28969974	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28970005	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28970006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28970014	1.00[EUR][1000 genomes]
rs28970015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34652311	1.00[EUR][1000 genomes]
rs45498701	1.00[EUR][1000 genomes]
rs45505392	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45548336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121108	1.00[EUR][1000 genomes]
rs73123128	1.00[EUR][1000 genomes]
rs73123133	1.00[EUR][1000 genomes]
rs73123137	1.00[EUR][1000 genomes]
rs73123148	1.00[EUR][1000 genomes]
rs73123150	1.00[EUR][1000 genomes]
rs9287602	1.00[EUR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234597800-234608600	Weak transcription	Gastric	stomach
2	chr2:234599400-234608000	Weak transcription	HUVEC	blood vessel
3	chr2:234600200-234601400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:234600200-234601600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:234600200-234602600	Enhancers	A549	lung
6	chr2:234600400-234601600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:234600400-234601800	Enhancers	Colonic Mucosa	Colon
8	chr2:234600400-234608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:234600600-234601200	Enhancers	Liver	Liver
10	chr2:234600600-234601200	Active TSS	Esophagus	oesophagus
11	chr2:234600600-234601400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr2:234600600-234602000	Flanking Active TSS	NHEK	skin
13	chr2:234600800-234601400	Enhancers	Fetal Intestine Large	intestine
14	chr2:234600800-234601400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:234600800-234601400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:234600800-234601600	Enhancers	HMEC	breast
17	chr2:234600800-234602400	Enhancers	Fetal Kidney	kidney
18	chr2:234600800-234603000	Weak transcription	Right Atrium	heart
19	chr2:234601000-234601400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:234601000-234601400	Flanking Active TSS	Stomach Mucosa	stomach
21	chr2:234601000-234601800	Enhancers	Fetal Intestine Small	intestine
22	chr2:234601000-234602400	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links