Variant report

Variant	rs73073575
Chromosome Location	chr2:211457906-211457907
allele	G/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	POLR2A	chr2:211457722-211458198	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:211443235-211458832	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:211457170-211458507	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
CPS1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56139073	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58205745	1.00[AMR][1000 genomes]
rs59741271	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73073555	1.00[AMR][1000 genomes]
rs73073558	1.00[AMR][1000 genomes]
rs73073577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73073588	1.00[AMR][1000 genomes]
rs73073600	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73076011	1.00[AMR][1000 genomes]
rs73076037	1.00[AMR][1000 genomes]
rs73984620	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211438400-211459600	Weak transcription	Small Intestine	intestine
2	chr2:211442400-211484200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:211442800-211477800	Strong transcription	Liver	Liver
4	chr2:211448600-211480800	Weak transcription	Aorta	Aorta
5	chr2:211448800-211460200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:211448800-211475400	Weak transcription	Ovary	ovary
7	chr2:211449800-211458200	Strong transcription	Hela-S3	cervix
8	chr2:211449800-211467000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:211450000-211458600	Strong transcription	Fetal Intestine Large	intestine
10	chr2:211450000-211466800	Weak transcription	HepG2	liver
11	chr2:211450200-211481400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:211456600-211459800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:211456800-211458000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:211457200-211458200	Strong transcription	Fetal Intestine Small	intestine
15	chr2:211457400-211458800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:211457600-211458200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:211457600-211458200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:211457600-211458200	Enhancers	Fetal Brain Male	brain
19	chr2:211457600-211458400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:211457600-211458400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:211457600-211458400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:211457600-211458600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:211457600-211459200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:211457800-211467800	Weak transcription	HSMM	muscle

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